Here are my sources, along with plenty of in-depth information and further reading about all the subjects referred to in the book, plus a few digressions which didn’t really fit into the main body of the text.
Many of my sources are only available online, or at least are far easier to find on the Internet than elsewhere, so the whole of this section is available on my website, with up-to-date links to all references. See www.kornfeldt.com/The-unnatural-selection-of-our-species/.
Introduction – A Time of Radical Change.
1 The official Nobel Prize website lists all the Nobel laureates for 2020: https://www.nobelprize.org/all-2020-nobel-prizes.
2 There is a fascinating book about the scientific background to Frankenstein: Kathryn Harkup’s Making the Monster: The Science behind Mary Shelley’s Frankenstein (London: Bloomsbury, 2018).
The first experiments showing that electricity could make animal corpses move were conducted by Luigi Galvani in 1780. Jessica P. Johnson’s article ‘Animal electricity, circa 1781’, describing these experiments, with contemporary illustrations, appeared in The Scientist on 28 September 2011: http://www.the-scientist.com/?articles.view/articleNo/31078/title/Animal-Electricity-circa-1781/.
3 In 1818, Mary Shelley (as she was by then) published Frankenstein; or, The Modern Prometheus anonymously in London. Her name didn’t appear on the novel until a translation was published in France in 1823.
4 The original series of Star Trek follows the crew of the USS Enterprise (NCC-1701), but the crews, the vessel itself and the stories have been constantly updated ever since. Everything (and almost certainly much more) you might ever want to know about the Star Trek universe can be found at https://intl.startrek.com.
5 The kiss between Captain James T. Kirk and communications officer Nyota Uhura was shown on American TV on 22 November 1968, in ‘Plato’s Stepchildren’. Though not the first kiss between a white American and an African American to be shown on TV, it had a huge impact at a time of great antagonism within the United States. Uhura is often highlighted as an icon and an early positive image of an African American woman with considerable power and gravitas. More on Star Trek’s iconic female characters can be found in Margaret Kingsbury’s article ‘Star Trek created feminist icons in front of and behind the camera’: https://intl.startrek.com/news/star-trek-created-feminist-icons-infront-of-and-behind-the-camera.
6 Charles C. Mann’s book The Wizard and the Prophet (New York: Knopf, 2018) focuses in depth on this conflict between different ways of looking at science and progress.
7 There is a great deal of research into how much healthier and more secure we are today. You can find more information about this at www.gapminder.org or in an article entitled ‘Seven reasons why the world is improving’ by Julius Probst, published on 11 January 2019 at https://www.bbc.com/future/article/20190111-seven-reasons-why-theworld-is-improving.
8 According to the World Health Organization (WHO), approximately 4.2 million people die each year from air pollution (https://www.who.int/airpollution/en/), while about 1.5 million die of diabetes (https://www.who.int/news-room/fact-sheets/detail/diabetes) and just under a million people die of AIDS-related diseases (https://www.unaids.org/en/resources/fact-sheet).
9 Chapter 2 deals with the birth of Lulu and Nana in more detail. The first publication to report on the event was MIT Technology Review, in an article by Antonio Regalado published on 25 November 2018: ‘Exclusive: Chinese scientists are creating CRISPR babies’: https://www.technologyreview.com/s/612458/exclusive-chinese-scientists-are-creating-crispr-babies/.
10 My previous book, The Re-Origin of Species, was published by Scribe in 2018: https://scribepublications.com.au/books-authors/books/the-re-origin-of-species.
11 Louise Brown was the first person born thanks to in-vitro fertilization (IVF). Here, in her own words, is an account of the breakthrough and IVF: ‘Louise Brown on 40 years of IVF: “I was the world’s first IVF baby, this is my story”’, Independent (25 July 2018): https://www.independent.co.uk/life-style/health-and-families/ivf-baby-louise-brown-storytest-tube-world-first-40th-anniversary-a8455956.html.
12 Jean Purdy received less recognition for her work, despite playing an essential part. Her role is beginning to be acknowledged more now. See, for instance, Iliana Magra, ‘Three created a fertility revolution with I.V.F., but one, a woman, went unrecognized’, New York Times (20 July 2019): https://www.nytimes.com/2019/06/10/world/europe/jean-purdy-ivf-plaque.html.
13 Comparisons were made between IVF and the atomic bomb. Feelings ran high and it was met with strong opposition. Here is an interesting article about the criticism once directed at IVF: Kat Eschner, ‘In vitro fertilization was once as controversial as gene editing is today’, Smithsonian Magazine (27 September 2017): https://www.smithsonianmag.com/smart-news/vitro-fertilization-wasonce-controversial-cloning-today-180964989/.
14 Here is the press release announcing the award of the Nobel Prize in Medicine to Robert Edwards for his work in developing IVF: https://www.nobelprize.org/prizes/medicine/2010/press-release/.
15 Naturally, much has been written about Jesse Gelsinger and his tragic death, but one of the best accounts I have read is ‘Gene therapy emerges from disgrace to be the next big thing, again’ by Carl Zimmer, published in Wired on 13 August 2013: https://www.wired.com/2013/08/the-fall-and-rise-of-gene-therapy-2/.
Another article about Jesse Gelsinger and the impact of his death on the development of gene therapy is Meir Rinde, ‘The death of Jesse Gelsinger, 20 years later’, Science History Institute [website] (4 June 2019): https://www.sciencehistory.org/distillations/the-death-of-jesse-gelsinger-20-years-later.
16 Ignaz Semmelweis was a fascinating person in many ways. Much has been written about him. See, for instance: Howard Markel, ‘In 1850, Ignaz Semmelweis saved lives with three words: wash your hands’, PBS [website] (15 May 2015): https://www.pbs.org/newshour/health/ ignaz-semmelweis-doctor-prescribed-hand-washing.
17 More on the Vipeholm experiments: Sandee LaMotte, ‘The Swedish cavity experiments’, CNN [website] (30 October 2019): https://edition.cnn.com/2019/10/30/health/swedishcavity-experiment-wellness/index.html.
1. A Modern Prometheus
1 The whole of He Jiankui’s presentation and the subsequent question-and-answer session are reproduced on the website of the Second International Summit on Human Genome Editing: https://www.nationalacademies.org/gene-editing/2nd_summit/.
Both can also be found on YouTube in the video entitled ‘28 Nov 2018 – international summit on human genome editing – He Jiankui presentation and Q&A’: https://www.youtube.com/watch?v=tLZufCrjrN0. A transcription of the presentation and the Q&A session can be found at https://diyhpl.us/wiki/transcripts/human-genome-editing-summit/2018-hong-kong/jiankui-he-human-genome-editing/.
2 The five short YouTube videos that He Jiankui released before the summit can be found on ‘The He Lab’ channel at https://www.youtube.com/channel/UCn_Elifynj3LrubPKHXecwQ.
3 The CCR5 gene which He Jiankui tried to edit has a fascinating history. A. P. Galvani and J. Novembre give a scientific account of the gene and what is known about the variants that afford protection against HIV in their scientific article ‘The evolutionary history of the CCR5-Δ32 HIVresistance mutation’, Microbes and Infection 7/2 (February 2005), pp. 302–9: https://www.sciencedirect.com/science/article/abs/pii/S1286457904003636.
4 Clearly it’s difficult to know exactly how many cells there are in an adult human body, but the study most often cited refers to an average of 37.2 trillion (37,000 billion) cells. See Eva Bianconi et al., ‘An estimation of the number of cells in the human body’, Annals of Human Biology 40/6 (November–December 2013), pp. 463–71: https://pubmed.ncbi.nlm.nih.gov/23829164/.
5 Obviously, endless articles have been written about He Jiankui’s experiment and its consequences, yet much remains unknown. Jon Cohen’s excellent article ‘The untold story of the “circle of trust” behind the world’s first gene-edited babies’ gives a good account. See Science (1 August 2019): https://www.sciencemag.org/news/2019/08/untold-storycircle- trust-behind-world-s-first-gene-edited-babies.
Another article on He Jiankui’s experiment is David Cyranoski, ‘The CRISPR-baby scandal: what’s next for human gene-editing’, Nature (26 February 2019): https://www.nature.com/articles/d41586-019-00673-1.
6 In June 2019 a scientific article was published (Xinzhu Wei, ‘CCR5-Δ32 is deleterious in the homozygous state in humans’, Nature Medicine 25) which appeared to show that double sets of the CCR5 variant that He Jiankui tried to create shorten people’s lives. But in September 2019 it emerged that the study had serious methodological flaws. It has now been withdrawn by the scientists concerned. The following is a news article on the problems involved: Rebecca Robbins, ‘Major error undermines study suggesting change introduced in the CRISPR babies experiment shortens lives’, Stat [website] (27 September 2019): https://www.statnews.com/2019/09/27/major-error-underminesstudy-suggesting-change-introduced-in-the-crispr-babiesexperiment-shortens-lives.
7 The 1997 Oviedo Convention can be read in its entirety on the website of the Council of Europe. See ‘Convention for the protection of human rights and dignity of the human being with regard to the application of biology and medicine: convention on human rights and biomedicine’: https://www.coe.int/en/web/conventions/full-list/-/conventions/treaty/164.
8 The First International Summit on Human Genome Editing was held in Washington DC in December 2015. Information about all the presentations and recordings from the summit may be found here: https://national-academies. org/gene-editing/Gene-Edit-Summit/. ‘On Human Gene Editing: International Summit Statement’ (the joint statement and agreement concluding the summit) may be found at https://www.nationalacademies.org/news/2015/12/on-human-gene-editing-international-summit-statement.
A quotation from the text: ‘It would be irresponsible to proceed with any clinical use of germline editing unless and until (i) the relevant safety and efficacy issues have been resolved, based on appropriate understanding and balancing of risks, potential benefits, and alternatives, and (ii) there is broad societal consensus about the appropriateness of the proposed application. Moreover, any clinical use should proceed only under appropriate regulatory oversight. At present, these criteria have not been met for any proposed clinical use: the safety issues have not yet been adequately explored; the cases of most compelling benefit are limited; and many nations have legislative or regulatory bans on germline modification. However, as scientific knowledge advances and societal views evolve, the clinical use of germline editing should be revisited on a regular basis.’
9 The first scientific study to show that CRISPR-Cas9 could be used on human embryos was Puping Liang et al., ‘CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes’, Protein & Cell 6/5 (May 2015), pp. 363–72: https://link.springer.com/article/10.1007/s13238-015-0153-5.
10 Tang Lichun’s scientific article on the use of CRISPR-Cas9 to modify human embryos is here: L. Tang, Y. Zeng, H. Du, et al., ‘CRISPR/Cas9-mediated gene editing in human zygotes using Cas9 protein’, Molecular Genetics and Genomics 292 (2017), pp. 525–33: https://link.springer.com/article/10.1007/s00438-017-1299-z.
11 A journal got hold of He Jiankui’s draft of a scientific paper about the twin girls. The following article contains excerpts from the paper and scientists’ comments: Antonio Regalado, ‘China’s CRISPR babies: read exclusive excerpts from the unseen original research’, MIT Technology Review (3 December 2019): https://www.technologyreview.com/s/614764/chinas-crispr-babies-read-exclusiveexcerpts-he-jiankui-paper/.
12 There is sure to be more news by the time you read this, but here is one of the first articles about Rebrikov: Antonio Regalado, ‘A Russian scientist has threatened to make more CRISPR babies’, MIT Technology Review (11 June 2019): https://www.technologyreview.com/f/613661/crispr-babies-gene-editing-scientist-china-russia-hiv/. And here is an interview with one of the couples who want to take part in his experiment: Jon Cohen, ‘Deaf couple may edit embryo’s DNA to correct hearing mutation’, Science (21 October 2019): https://www.sciencemag.org/news/2019/10/deaf-couple-may-edit-embryo-s-dnacorrect-hearing-mutation.
13 The following article attempts to summarize the debate between scientists about whether, when and how we should modify human embryos. It contains a number of useful links to arguments on both sides of the debate, for those interested in further reading: Françoise Baylis and Marcy Darnovsky, ‘Scientists disagree about the ethics and governance of human germline editing’, Hastings Center [website] (17 January 2019): https://www.thehastingscenter.org/scientists-disagree-ethicsgovernance-human-germline-genome-editing/.
2. Build Your Own Baby
1 The badges worn by Korean women to show that they are pregnant were introduced to guarantee them a seat on public transport. A Korean website for expats provides more details of the scheme: https://www.korea4expats.com/article-pregnant-women-badge.html.
2 The news about South Korea’s record low birth rate was reported in The Guardian and elsewhere: Benjamin Haas, ‘South Korea’s fertility rate set to hit record low of 0.96’, Guardian (3 September 2018): https://www.theguardian.com/world/2018/sep/03/south-koreas-fertility-rate-set-to-hit-record-low.
3 South Korea has embarked on an active pronatalist policy, but research indicates that certain aspects of the policy are harmful to women’s reproductive health: Sunhye Kim, ‘Reproductive technologies as population control: how pronatalist policies harm reproductive health in South Korea’, Sexual and Reproductive Health Matters 27/2 (2019), pp. 6–12: https://www.tandfonline.com/doi/full/10.1080/26410397.2019.1610278.
4 One of the main reasons for continued population growth even in countries with a low birth rate is that the calculation is based on the number of children a woman has during her life. In other words, statisticians look at whether there are already large numbers of girls who will have children in the course of their lives. Existing children will have children during their lives, so the population will continue to rise for a few decades even after the number of live births per woman has fallen below replacement level (which means an average of 2.1 children per woman over a lifetime). An example of this is Japan: the number of live births per woman fell below 2.1 in 1974, but owing to the time lag described, the Japanese population didn’t begin to fall until 2010, over 30 years later.
5 A report on reproductive tourism in South Korea: Ko Dong-Hwan, ‘Korean clinic treats more foreigners with fertility problems’, Korea Times (12 July 2018): http://www.koreatimes.co.kr/www/nation/2018/10/119_252097.html.
6 The CHA Fertility Center has a website (http://seoul.chamc.co.kr/en/) which provides more information about its activities. After my visit to the CHA Fertility Center, its American clinic was rocked by a scandal, a tragic case involving confusion between the embryos from three couples undergoing IVF treatment: ‘PWCK: CHA Fertility Center 183 put couple through “a living hell” in having another woman give birth to our son’, Bloomberg [website] (10 June 2019): https://www.bloomberg.com/press-releases/2019-07-10/pwck-cha-fertility-center-put-couple-through-a-living-hell-in-having-another-woman-give-birth-to-our-son.
7 In which country will the first clinic offer gene-editing to its customers? This remains an open question. A few articles have been written that try to provide an answer. An account of legislation on gene-editing of embryos in a number of countries: Heidi Ledford, ‘Where in the world could the first CRISPR baby be born?’, Nature (13 October 2015): https://www.nature.com/news/where-in-the-worldcould-the-first-crispr-baby-be-born-1.18542.
See also Guillermo Aquino-Jarquin, ‘Tighten up Mexico’s regulations on human gene editing’, Nature (26 February 2019): https://www.nature.com/articles/d41586-019-00666-0.
8 Ishii Tetsuya has written a number of scientific articles on the risks of modifying embryos, the possible impact on society and the link with reproductive tourism. They include:
• ‘Germline genome-editing research and its socioethical implications’, Trends in Molecular Medicine 21/8 (August 2015), pp. 473–81: https://www.sciencedirect.com/science/article/abs/pii/S1471491415001070.
• ‘Providing appropriate risk information on genome editing for patients’, Trends in Biotechnology 34/2 (February 2016), pp. 86–90: https://www.sciencedirect.com/science/article/abs/pii/S0167779915002498.
• ‘Germ line genome editing in clinics: the approaches, objectives and global society’, Briefings in Functional Genomics 16/1 (January 2017), pp. 46–56: https://academic.oup.com/bfg/article/16/1/46/2962382.
• ‘The ethics of creating genetically modified children using genome editing’, Current Opinion in Endocrinology, Diabetes and Obesity 24/6 (December 2017), pp. 418–23: https://journals.lww.com/co-endocrinology/Abstract/2017/12000/The_ethics_of_creating_genetically_modified.7.aspx.
9 In addition, many genes that were once part of mitochondrial DNA have now become part of the DNA in our cell nucleus, our genome, making the link between us and our mitochondrial DNA even stronger.
10 Not only mitochondria, but also the green chloroplasts in plants have the same history. For more detail, I recommend W. Martin and M. Mentel, ‘The origin of mitochondria’, Nature Education 3/9 (2010), p. 58: https://www.nature.com/scitable/topicpage/the-origin-of-mitochondria-14232356.
11 The NHS website contains an introduction to mitochondrial disorders: https://mitochondrialdisease.nhs.uk/patient-area/what-mitochondrial-disease/.
12 Two good articles on mitochondrial diseases and donations:
• For those who read Swedish, the magazine Forskning & Framsteg published an article in 2015 about the significance of the new law in the UK for Swedish couples who want to have children but suffer from a mitochondrial disease: Per Snaprud, ‘För första gången tillåts en behandling som går i arv’, Forskning & Framsteg (8 April 2015): https://fof.se/tidning/2015/4/artikel/for-forsta-gangen-tillats-enbehandling-som-gar-i-arv.
• The New York Times published an article about the fact that several decades have passed since the first genetically modified children were born using donated mitochondria: Carl Zimmer, ‘Genetically modified people are walking among us’, New York Times (1 December 2018): https://www.nytimes.com/2018/12/01/sunday-review/crispr-china-babiesgene-editing.html.
13 See the article referred to in note 9 of this chapter, but alsothe following scientific article: Jacques Cohen et al., ‘Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs’, Lancet 350/9072 (19 July 1997), pp. 186–7: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(05)62353-7/fulltext.
14 A news report on the Ukrainian clinic: Rob Stein, ‘Clinic claims success in making babies with 3 parents’ DNA’, NPR [website] (6 June 2018): https://www.npr.org/sections/healthshots/2018/06/615909572/inside-the-ukrainian-clinic-making-3-parent-babies-forwomen-who-are-infertile.
Much has been written about the opportunities and risks surrounding donated mitochondria. One example is this popular-science article: Catherine Weiner, ‘Mitochondrial transfer: the making of threeparent babies’, Science in the News [website], 22 August 2018: http://sitn.hms.harvard.edu/flash/2018/mitochondrial-transfer-making-three-parent-babies/.
15 A report claims that IVF clinics in Asia will be worth almost US$14 billion by 2025. The Economist has a good account of how this market is developing:
• ‘The fertility business is booming’, Economist (8 August 2019): https://www.economist.com/business/2019/08/08/the-fertility-business-is-booming.
• See also ‘Asia-Pacific IVF services market is expected toreach $13.66 bn through 2025’, Allied Market Research [website] (12 June 2019): https://www.globenewswire.com/news-release/2019/06/12/1867647/0/en/Asia-Pacific-IVF-Services-Market-is-Expected-to-Reach-13-66-Bn-through-2025.html.
16 See Antonio Regalado, ‘Disgraced CRISPR scientist had plans to start a designer-baby business’, MIT Technology Review (1 August 2019): https://www.technologyreview.com/s/614051/crispr-baby-maker-explored-starting-abusiness-in-designer-baby-tourism/.
17 The ethnologist Susanne Lundin has written an excellent book on the trade in human organs, including the trade in donor eggs and sperm: Organs for Sale: An Ethnographic Examination of the International Organ Trade (Basingstoke: Palgrave Macmillan, 2015).
18 A well-written account of the problems that arise with geneediting becoming part of the reproductive industry: Rosa Castro, ‘The next frontier in reproductive tourism? Genetic modification’, The Conversation [website] (18 November 2016): http://theconversation.com/the-next-frontier-inreproductive-tourism-genetic-modification-67132.
19 A scientific article on the mice with two mothers: Zhi-Kun Li et al., ‘Generation of bimaternal and bipaternal mice from hypomethylated haploid ESCs with imprinting region deletions’, Cell Stem Cell 23/5 (1 November 2018), pp. 665–76: https://www.cell.com/cell-stem-cell/fulltext/S1934-5909(18)30441-7.
20 A scientific article summarizing what we know about intelligence, genes and heredity: Robert Plomin and Sophie von Stumm, ‘The new genetics of intelligence’, Nature Reviews Genetics 19 (2018), pp. 148–59: https://www.nature.com/articles/nrg.2017.104.
21 News article: Hannah Devlin, ‘IVF couples could be able to choose the “smartest” embryo’, Guardian (24 May 2019): https://www.theguardian.com/society/2019/may/24/ivf-couples-could-be-able-to-choose-the-smartest-embryo.
22 A scientific article about the genetic link between creativity and certain mental illnesses: Robert A. Power et al., ‘Polygenic risk scores for schizophrenia and bipolar disorder predict creativity’, Nature Neuroscience 18 (2015), pp. 953–5: https://www.nature.com/articles/nn.4040.
23 The joint director of the European Bioinformatics Institute, Ewan Birney, has blogged about why it is problematic to try to select embryos with ‘good genes’, given that our traits are affected by a range of different genes: ‘Why embryo selection for polygenic traits is wrong’ (26 May 2019): http://ewanbirney.com/2019/05/why-embryo-selection-forpolygenic-traits-is-wrong.html.
(A quotation: ‘This is wrong on a number of levels; ethically it is wrong to make this decision as an independent laboratory without broad societal buy-in; scientifically it is wrong to imagine the ways we assess polygenic traits will translate into safe and effective embryo selection; for the specifics of IQ/Educational attainment trait this trait is so complex [that] this is additionally unwise over and above any concerns.’)
24 Here are two studies of public attitudes to gene-editing:
• George Gaskell et al., ‘Public views on gene editing and its uses’, Nature Biotechnology 35 (2017), pp. 1021–3: https://www.nature.com/articles/nbt.3958.
• Masato Uchiyama et al., ‘Survey on the perception of germline genome editing among the general public in Japan,’ Journal of Human Genetics 63 (2018), pp. 745–8: https://www.nature.com/articles/s10038-018-0430-2.
1 For more background, see Genspace’s website (https://www.genspace.org/) and an article on DIY biology written by co-founders Ellen Jorgensen and Daniel Grushkin in 2011: ‘Engage with, don’t fear, community labs’, Nature Medicine 17 (2011), p. 411: https://www.nature.com/articles/nm0411-411?proof=t.
2 A website called ‘A Guide to DIY Bio’ contains a wealth of information about DIY biology, from labs to courses and conferences to projects and active Facebook groups. It was updated in 2019. See https://thatmre.medium.com/a-guide-to-diybio-updated-2019-abd0956cdf74. See also https://sphere.diybio.org/, a website that collects information about labs, projects and so on.
3 Biotech Without Borders has a website at http://www.biotechwithoutborders.org/.
4 A video in which Josiah Zayner injects himself can be viewed at: https://www.buzzfeednews.com/article/stephaniemlee/this-biohacker-wants-to-edit-his-own-dna Zayner has a blog, Science, Art, Beauty, which includes a post from February 2017 on genetically engineering humans: http://www.josiahzayner.com/2017/02/.
5 Netflix has a website about the series Unnatural Selection: https:///www.netflix.com/title/80208910. There are four programmes that look into different aspects of gene technology, including trying to edit your own genes.
6 Here are a few news stories about how various people before Josiah Zayner tried editing their own genes:
• On Liz Parrish: Dara Mohammadi and Nicola Davis, ‘Can this woman cure ageing with gene therapy?’, Guardian (24 July 2016): https://www.theguardian.com/science/2016/jul/24/elizabeth-parrish-gene-therapy-ageing.
• On Brian Hanley: Antonio Regalado, ‘One man’s quest to hack his own genes’, MIT Technology Review (10 January 2017): https://www.technologyreview.com/s/603217/one-mans-quest-to-hack-his-own-genes/.
• On an attempt to cure lactose intolerance: David Grossman, ‘Scientist painstakingly documents his own DIY gene therapy’, Popular Mechanics (14 February 2018): https://www.popularmechanics.com/science/health/a17804128/scientistpainstakingly-documents-his-own-diy-genetherapy/.
7 A news article about Aaron Traywick, his experiment and his tragic death: Kirsten Brown, ‘What does an infamous biohacker’s death mean for the future of DIY science?’, Atlantic (5 May 2018): https://www.theatlantic.com/science/archive/2018/05/aaron-traywick-death-ascendance-biomedical/559745/.
8 The company, called ‘The Odin’, has a website which tells you how to edit your own genes: http://www.the-odin.com/diyhumancrispr/.
9 Here’s a comment from Josiah Zayner’s public Facebook page from December 2018: ‘Most people can’t get access to these clinical trials and instead suffer and die. These gene therapies could be replicated for a few thousand dollars and made with the same purity.
‘With gene therapies there is very little chance of adverse events. However, it is illegal to provide this to people even under medical supervision. More than 1 million people in the world suffer from muscle diseases and the average life expectancy is 20–30 years. We need to do more to help these people. #dmd #musculardystrophy #biohacking#diygenetherapy #PiratingGeneTherapy.’
10 Here are two good interviews with Josiah Zayner (he declined to be interviewed for this book):
• Tom Ireland, ‘I want to help humans genetically modify themselves’, Guardian (24 December 2017): https://www.theguardian.com/science/2017/dec/24/josiah-zayner-diy-gene-editing-therapy-crisprinterview.
• Sarah Zhang, ‘A biohacker regrets publicly injecting himself with CRISPR’, Atlantic (February 2018): https://www.theatlantic.com/science/archive/2018/02/biohacking-stunts-crispr/553511/.
11 Here’s a news article about the research and the ensuing debate: Kai Kupferschmidt, ‘A paper showing how to make a smallpox cousin just got published. Critics wonder why’, Science (January 2018): https://www.sciencemag.org/news/2018/01/paper-showing-how-make-smallpox-cousinjust-got-published-critics-wonder-why.
12 Michael Schrage, ‘Playing God in your basement’, Washington Post (31 January 1988): https://washingtonpost.com/archive/opinions/1988/01/31/playing-god-in-yourbasement/618f174d-fc11-47b3-a8db-fae1b8340c67/.
13 Some more suggested reading for those interested in the subject:
• Eleonore Pauwels, ‘The rise of citizen bioscience: is self-experimentation with gene editing techniques something we should herald as a new form of “permissionless” innovation?’, Scientific American (5 January 2018): https://blogs.scientificamerican.com/observations/the-rise-of-citizen-bioscience/.
• Marcy Danovsky, ‘Hacking your own genes: a recipe for disaster’, LeapsMag [website] (18 January 2018): https://leaps.org/hacking-genes-recipe-disaster/. This article highlights the similarities between DIY gene therapies and the problems that have arisen with stem cell therapy.
4. The Gene Race
1 Fifty years after Sputnik 1, in 2007, American National Public Radio (NPR) made a series of programmes about the satellite, its history and its impact: Sputnik at 50: Looking Back at the Space Race. See https://www.npr.org/series/14933218/sputnik-at-50-looking-back-at-the-spacerace?t=1573814938464.
2 Many commentators have called China’s advances in gene technology ‘Sputnik events’. One such is André Choulika in the following op-ed: ‘The West is losing the gene editing race. It needs to catch up’, Stat [website] (29 October 2018): https://www.statnews.com/2018/10/29/west-is-losing-gene-editing-race/.
3 Can China become a scientific superpower?
• The Economist tried to answer this question in a long and fascinating article that’s well worth reading and goes beyond gene technology. It also offers a good account of the amount various countries and regions are investing in research: ‘Can China become a scientific superpower?’ (12 January 2019): https://www.economist.com/science-and-technology/2019/01/12/can-china-become-a-scientific-superpower.
• The lead article in the same number of The Economist, quoted in the text: ‘How China could dominate science – should the world worry?’ (12 January 2019): https://www.economist.com/leaders/2019/01/12/how-china-could-dominate-science.
• A slightly older news article in Nature which also aims to give an idea of how much China is spending on research: Richard Van Noorden, ‘China by the numbers – research capacity has grown rapidly, and now quality is on the rise’, Nature (22 June 2016): https://www.nature.com/news/china-by-the-numbers-1.20122.
• A good long article about how China is developing into a scientific superpower: Shellen Wu, ‘China: how science made a superpower’, Nature (1 October 2019): https://www.nature.com/articles/d41586-019-02937-2.
4 The Yunnan Key Laboratory of Primate Biomedical Research doesn’t have a dedicated website. However, there are a number of good articles about the centre, including the following:
• Sarah Zhang, ‘China is genetically engineering monkeys with brain disorders’, Atlantic (June 2018): https://www.theatlantic.com/science/archive/2018/06/china-is-genetically-engineeringmonkeys-with-brain-isorders/561866/.
• David Cyranoski, ‘Monkey kingdom – China is positioning itself as a world leader in primate research’, Nature (21 April 2016): https://www.nature.com/news/monkey-kingdom-1.19762.
5 The scientific paper Ji Weizhi referred to, describing how his team was the first to use CRISPR to genetically modify monkeys, is Yuyu Niu et al., ‘Generation of gene-modified cynomolgus monkey via Cas9/RNA-mediated gene targeting in one-cell embryos’, Cell 156/4 (13 February 2014), pp. 836–43: https://www.cell.com/cell/fulltext/S0092-8674(14)00079-8.
6 There are a number of good articles giving an overview of the feasibility of using monkeys as models for human diseases and the problems that entails, one of which is Kenya Sato and Erika Sasaki, ‘Genetic engineering in nonhuman primates for human disease modeling’, Journal of Human Genetics 63 (2018), pp. 125–31: https://www.nature.com/articles/s10038-017-0351-5.
7 Here is a scientific account of how monkeys are used to research age-related human diseases, such as Parkinson’s, and the associated problems: Jean-Michel Verdier et al., ‘Lessons from the analysis of nonhuman primates for understanding human aging and neurodegenerative diseases’, Frontiers in Neuroscience (4 March 2015): https://www.frontiersin.org/articles/10.3389/fnins.2015.00064/full.
8 There have been many reports and studies on China’s laboratory monkeys. See also ‘Monkey kingdom’ (note 4 in this chapter).
• Apoorva Mandavilli, ‘Monkey business’, Nature Medicine 12 (March 2006), pp. 266–7: https://www.nature.com/articles/nm0306-266.
• Baoguo Li et al., ‘The primate extinction crisis in China: immediate challenges and a way forward’, Biodiversity and Conservation 27/13 (November 2018), pp. 3301–27: https://link.springer.com/article/10.007/s10581-018-1614-y.
• Qingyong Ni at al., ‘Conservation implications of primate trade in China over 18 years based on web news reports of confiscations’, PeerJ 6/e6069 (6 December 2018): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286804.
• Kathryn Bayne and Jianfei Wang, ‘Oversight of animal research in China’, in Javier Guillén, ed., Laboratory Animals (2nd edn; n.p.: Academic Press, 2018), pp. 243–66.
• J. Hagelin, ‘Use of live nonhuman primates in research in Asia’, Journal of Postgraduate Medicine 50/4 (2004): http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2004;volume=50;issue=4;spage=253;epage=256;aulast=hagelin.
9 Here are a few reports and articles concerning problems with academic freedom in contemporary China: • Emiie Tran, ‘China: zero tolerance for academic freedom’, The Conversation [website] (17 October 20 https://theconversation.com/china-zero-tolerance-for-academic-freedom-85200.
• ‘Freedom in the world 2019’, chapter on China, published by Freedomhouse: https://freedomhouse.org/country/china/freedom-world/2019.
• Human Rights Watch, ‘World Report 2019: China events of 2018’: https://www.hrw.org/world-report/2019/country-chapters/china-and-tibet.
• Scholars at Risk Network, Obstacles to Excellence: Academic Freedom and China’s Quest for World-Class Universities (24 September 2019): https://www.scholarsatrisk.org/resources/obstacles-toexcellence-academic-freedom-chinas-quest-forworld-class-universities/.
• Jeffrey Mervis, ‘When Europeans do science in China’, Science (11 September 2019): https://www.sciencemag.org/news/2019/09/when-europeans-do-science-china.
10 It isn’t clear how scientific progress in China will affect the country’s regimented society, or vice versa. It’s also difficult to assess how much freedom scientists have. Sociologist Joy Y. Zhang has researched China’s science establishment. In this popular-science article, she describes how China has created a system that is vulnerable to falsification of research and to secrecy in the scientific community: ‘Why Chinese science seems so secretive – and how it may be about to change’, The Conversation [website] (24 January 2019): https://theconversation.com/why-chinese-science-seemsso-secretive-and-how-it-may-be-about-to-change-110326.
11 Much was written about Su Bing and his research when he first showed that he could splice human gene variants into monkeys, and Chapter 12 contains further references to his research. The following article is worth reading: Antonio Regalado, ‘Chinese scientists have put human brain genes in monkeys – and yes, they may be smarter’, MIT Technology Review (10 April 2019): https://www.technologyreview.com/2019/04/10/136131/chinesescientists-have-put-human-brain-genes-in-monkeysandyes-they-may-be-smarter/.
5. Storm in a Bowl of Yoghurt
1 Just like everything else in biology, the reality is rather more complex. The microbes we commonly refer to as bacteria fall into two groups: bacteria and archaea. These are quite dissimilar, archaea being closer to eukaryotes than genuine bacteria. Eukaryotes form a large and diverse group. They include all multi-celled organisms: animals, plants and fungi. We humans are eukaryotes, but the group also includes all single-celled microbes other than bacteria and archaea – a web of life so complex that it would take an entire book to describe these organisms adequately. Three well-known examples are amoebas, slipper animalcules and the sea sparkle (Noctiluca scintillans), a luminescent phytoplankton that lights up the west coast of Sweden in late summer, as well as appearing in other places, including the Norfolk coast in eastern England, the west coast of the United States, the Somali coast and around Indonesia. Every living organism on Earth falls into one of these three categories. Viruses are somewhat separate from these three, as technically they’re not even really alive. They have no cell of their own and are therefore not even counted as unicellular organisms.
2 In the case of a person about whom so much has been written as Alexander Fleming, it’s almost impossible to single out just one source. However, since he received the Nobel Prize for his discovery (together with Ernst Boris Chain and Howard Walter Florey), the short text about this award at nobel-prize.org is a good place to start: https://www.nobelprize.org/prizes/medicine/1945/summary.
3 A scientific account of the history of antibiotics and the future challenges we face: Kyriacos C. Nicolaou and Stephan Rigo, ‘A brief history of antibiotics and select advances in their synthesis’, Journal of Antibiotics 71 (2018), pp. 15–184: https://www.nature.com/articles/ja201762.
4 An interesting podcast that explores how antibiotics have been used on animals and in food, particularly chicken: Cynthia Graber and Nicola Twilley, ‘The birds and the bugs’ [an episode of the Gastropod podcast] (15 August 2017): https://gastropod.com/the-birds-and-the-bugs/.
There are several summaries of all the discoveries that led to CRISPR becoming such a useful tool:
• The Broad Institute collects the discoveries and lists the main publications in the field: ‘Crispr timeline’: https://www.broadinstitute.org/what-broad/areas-focus/project-spotlight/crispr-timeline.
The website What Is Biotechnology? has a more detailed list starting in 1987, which is regularly updated: ‘CRISPR-Cas9: timeline of key events’: https://www.whatisbiotechnology.org/index.php/timeline/science/CRISPR-Cas9.
I won’t list all the scientific publications associated with this development. There is a partial list of some of the most important publications below:
• First discovery of CRISPR: Y. Ishino et al., ‘Nucleotide sequence of the iap gene, responsible for alkaline phosphatase isozyme conversion in Escherichia coli, and identification of the gene product’, Journal of Bacteriology 169/12 (December 1987), pp. 5429–33: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC213968/.
• The study of milk products which showed that CRISPR was an adaptive immune system: Rodolphe Barrangou et al., ‘CRISPR provides acquired resistance against viruses in prokaryotes’, Science 315/5819 (2007), pp. 1709–12: https://pubmed.ncbi.nlm.nih.gov/17379808/.
• Scientists including Jennifer Doudna and Emmanuelle Charpentier show that CRISPR can be used as a tool: Martin Jinek et al., ‘A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity’, Science 337/6096 (2012), pp. 816–21: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286148/.
• The first proof that the system worked on human cells: Prashant Mali et al., ‘RNA-guided human genome engineering via Cas9’, Science 339/6121 (2013), pp. 823–6: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712628/.
• Le Cong et al., ‘Multiplex genome engineering using CRISPR/Cas systems’, Science 339/6121 (2013), pp. 819–23: https://www.ncbi.nlm.nih.gov/pubmed/23287718.
6 Viruses that attack bacteria are known as phages or, more formally, as bacteriophages. There are a huge variety of phages, functioning in many different ways, with various different types of genetic systems among them. Viruses don’t always invade a bacterium’s genome. That generally happens only when the virus is not reproducing, but merely lying latent within a bacterial cell (lysogeny). This often has an evolutionary advantage. In what is known as ‘lytic growth’, the production of new viruses often involves viral DNA bursting out of a bacterium’s genome, after which it is copied and used to produce new viral particles. Many viruses are virulent (they cause damage to their host), and their DNA is never incorporated into bacterial DNA.
7 Bacteria have other weapons besides CRISPR to defend themselves against viruses. The restriction modification system, for instance, is far commoner than CRISPR, but there are also bacterial suicide systems, as well as others of which we have only a partial understanding. It’s likely that there are also others we haven’t yet discovered.
8 We know of many different CRISPR systems, and there are presumably many more yet to be discovered. Jennifer Doudna’s lab website gives a clear account of several of them: http://doudnalab.org/research_areas/crispr-systems/.
9 Jennifer Doudna and Samuel Sternberg, A Crack in Creation: The New Power to Control Evolution (London: Bodley Head, 2017).
10 One account of the history of genetic modification is Gabriel Rangel, ‘From corgis to corn: a brief look at the long history of GMO technology’, Science in the News [website] (9 August 2015): http://sitn.hms.harvard.edu/flash/2015/from-corgis-to-corn-a-brief-look-at-the-longhistory-of-gmo-technology/.
11 There is plenty of interesting reading on how the printing press was invented in both China and Korea long before Gutenberg. For those interested, I recommend Elisabeth Palermo, ‘Who invented the printing press?’ Live Science [website] (25 February 2014): https://www.livescience.com/43639-who-invented-the-printing-press.html.
12 Sweden’s first ever printed book was Dialogus creaturarum optime moralizatus. See https://en.wikipedia.org/wiki/Dialogus_creaturarum.
13 A scientific account of how these various systems work may be found in Thomas Gaj et al., ‘ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering’, Trends in Biotechnology 31/7 (July 2013), pp. 397–405: https://pubmed.ncbi.nlm.nih.gov/23664777/.
6. Unruly Peas
1 It goes without saying that much has been written about Mendel and his peas. For those keen to find out more, a good place to start is the section on Mendel in the Encyclopaedia Britannica, which contains a wealth of interesting information: https://www.britannica.com/biography/Gregor-Mendel.
2 Mendel’s original publication: Gregor Mendel, ‘Versuche über Pflanzenhybriden’, in Verhandlungen des naturforschenden Vereines in Brünn, vol. 4 (Brno: Vereines, 1866), pp. 3–47: https://www.biodiversitylibrary.org/item/188027#page/5/mode/1up. For the English translation, see Gregor Mendel, ‘Experiments in plant hybridization’, trans. C. T. Druery, Journal of the Royal Horticultural Society 26 (1901), pp. 1–32.
3 The fact that Mendel’s figures are slightly too good to be true is known as ‘the Mendelian paradox’. The scientist from whom the quotation is taken was Anthony F. W. Edwards, but many others have also written about this. One interesting article is Ira Pilgrim, ‘The too-good-to-be-true paradox and Gregor Mendel’, The Journal of Heredity 75/6 (1984), pp. 501–2: https://doi.org/10.1093/oxfordjournals.jhered.a109998.
4 An article on how the DNA molecule was discovered: Anne Marie Conlon, ‘Rosalind Franklin’, New Scientist: https://www.newscientist.com/people/rosalind-franklin/.
5 On the website of the BBC’s Science Focus magazine, Hannah Ashworth attempted to answer the question of how long your DNA is and concluded that there are more than two metres in every cell and a total of about twice the diameter of the solar system in the human body as a whole. See https://www.sciencefocus.com/the-human-body/howlong-is-your-dna/#:~:text=If%20you%20stretched%20the%20DNA,diameter%20of%20the%20Solar%20System.
6 Although the issue goes beyond the scope of this book, it’s important to bear in mind that it is not just the sex chromosomes which determine which biological sex a body develops. The development of biological sex is a process encompassing many different stages and factors. It’s possible for a body to develop in a way that doesn’t match its chromosomes: a body may appear to be male or female without having the usual set of chromosomes. Biological sex exists on a spectrum and isn’t something that can be simply divided into two groups. There are many different variants. This has been highlighted by the debate around sportswomen with unusually high testosterone levels.
Another factor, of course, is that many people are a different sex in practice from the one expressed by their body. This may be because they feel that they don’t fit the usual definition of either sex, or because they don’t identify with their physical sex. This experience is both more important and more genuine than the sex chromosomes an individual happens to possess. Much of interest has been written on this subject. Here are a few articles to serve as an introduction to the topic:
• Claire Ainsworth, ‘Sex redefined – the idea of two sexes is simplistic. Biologists now think there is a wider spectrum than that’, Nature (18 February 2015): https://www.nature.com/news/sex-redefined-1.16943.
• Amanda Montañez, ‘Visualizing sex as a spectrum 198 – infographic reveals the startling complexity of sex determination’, Scientific American (29 August 2017): https://blogs.scientificamerican.com/sa-visual/visualizing-sex-as-a-spectrum/.
• ‘The new science of sex and gender – why the new science of sex and gender matters for everyone’, Scientific American (1 September 2017): https:///www.scientificamerican.com/article/the-new-science-of-sex-and-gender/.
• Alexandra Kralick, ‘We finally understand that gender isn’t binary. Sex isn’t, either’, Slate [website] (13 November 2018): https://slate.com/technology/2018/11/sex-binary-gender-neitherexist.html.
7 The Human Genome Project was a vast undertaking. Full details are provided on the project’s website: https://www.genome.gov/human-genome-project.
8 The following article, published 20 years after Dolly’s birth, summarizes the state of play and future prospects: Sharon Begley, ‘It’s been 20 years since Dolly. Where’s my clone?’, Stat [website] (5 July 2016): https://www.statnews.com/2016/07/05/dolly-cloning-sheep-anniversary/.
9 Zhong Zhong and Hua Hua, the two macaques born in January 2018, are the first to be cloned in the same way as Dolly, using somatic cells (non-reproductive cells, taken from the body of an organism). A monkey named Tetra was born in the United States in 1999 through a cloning technique called ‘embryo-splitting’, preceded by another born in 1997 using a different cloning technique known as ‘nuclear transfer’.
Here is a scientific article about Zhong Zhong and Hua Hua (including references to earlier studies): Zhen Liu et al., ‘Cloning of macaque monkeys by somatic cell nuclear transfer’, Cell 172/4 (8 February 2018), pp. 881–7.e7: https://www.cell.com/cell/fulltext/S0092-8674(18)30057-6.
10 The whole of Bill Clinton’s speech and the rest of the announcement can be viewed on the National Human Genome Research Institute’s YouTube channel. See ‘Human genome announcement at the White House, 2000’: https://www.youtube.com/watch?v=slRyGLmt3qc.
11 The following article (among others) explains what happened when humans developed the ability to drink milk: Andrew Curry, ‘Why we “got milk”’, Scientific American (31 July 2013): https://www.scientificamerican.com/article/why-we-got-milk/.
7. Gene Therapy among Gilded Temples
1 Hangzhou Cancer Hospital has a website that provides more information: http://www.hzszlyy.com/.
2 There are several good reports on the hospital and its experimental treatments:
• Rob Stein, ‘Doctors in China lead race to treat cancer by editing genes’, NPR [website] (21 February 2018): https://www.npr.org/sections/healthshots/2018/02/21/585336506/doctors-in-china-leadrace-to-treat-cancer-by-editing-genes.
• Preetika Rana, Amy Dockser Marcus and Wenxin Fan, ‘China, unhampered by rules, races ahead in gene-editing trials’, Wall Street Journal (21 January 2018): https://www.wsj.com/articles/chinaunhampered-by-rules-races-ahead-in-gene-editingtrials-1516562360.
3 In 2018, James P. Allison and Tasuku Honjo were jointly awarded the Nobel Prize in Medicine for their discovery of strategies for treating cancer that involve inhibiting mechanisms which function as a brake on the immune system. This press release includes a summary of their research: https://www.nobelprize.org/uploads/2018/10/press-medicine2018.pdf.
A few years previously, Science selected this approach as ‘Breakthrough of the Year’. You can read more about the underlying research and its impact in Jennifer Couzin-Frankel, ‘Cancer immunotherapy’, Science 342/6165 (20 December 2013), pp. 1432–3: https://science.sciencemag.org/content/342/6165/1432.
The following article looks at the risk of overestimating the results of immunotherapy: Jocelyn Kaiser, ‘Too much of a good thing?’, Science 359/6382 (23 March 2018), pp. 1346–7: https://science.sciencemag.org/content/359/6382/1346/.
4 Since the development of immunotherapy, scientists have also examined various ways of harnessing gene technology to modify immune cells. Chimeric antigen receptor T-cell (CAR-T) therapy has been developed and CRISPR is being tried out on T cells. Here is some further reading for those wishing to look at this in more depth:
• ‘CRISPR, CAR-T, and cancer’, International Society for Stem Cell Research [website] (27 October 2017): https://www.isscr.org/professionalresources/news-publicationsss/isscr-news-articles/blog-detail/stem-cells-in-focus/2017/10/27/crispr-car-t-and-cancer.
• Hasan Mollanoori et al., ‘CRISPR/Cas9 and CAR-T cells, collaboration of two revolutionary technologies in cancer immunotherapy, an instruction for successful cancer treatment’, Human Immunology 79/12 (December 2018), pp. 876–82: https://pubmed.ncbi.nlm.nih.gov/30261221/.
• Matthew L. Cooper et al., ‘An “off-the-shelf” fratricide-resistant CAR-T for the treatment of T cell hematologic malignancies’, Leukemia 32 (2018), pp. 1970–83: https://www.nature.com/articles/s41375-018-0065-5.
• Shivani Srivastava and Stanley R. Riddell, ‘CAR T cell therapy: challenges to bench-to-bedside efficacy’, Journal of Immunology 200/2 (15 January 2018), pp. 459–68: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5957501.
5 The website clinicaltrials.gov shows all the clinical trials registered by the US authorities.
6 Three scientific articles about the application of CRISPR to cancer treatments:
• Ping Fan et al., ‘Exposing cancer with CRISPRCas9: from genetic identification to clinical therapy’, Translational Cancer Research 7/3 (June 2018): http://tcr.amegroups.com/article/view/22195/html.
• Volkan I. Sayin and Thales Papagiannakopoulos, ‘Application of CRISPR-mediated genome engineering in cancer research’, Cancer Letters 387 (28 February 2017), pp. 10–17: https://www.sciencedirect.com/science/article/abs/pii/S0304383516301793.
• Stella Baliou et al., ‘CRISPR therapeutic tools for complex genetic disorders and cancer’, International Journal of Oncology 53/2 (August 2018), pp. 443–68: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6017271/.
7 Here is an article about how China has taken the lead in applying CRISPR to cancer treatment: Dennis Normile, ‘China sprints ahead in CRISPR therapy race’, Science 358/6359 (6 October 2017), pp. 20–1: https://science.sciencemag.org/content/358/6359/20.
8 Choosing to go abroad for medical treatment in countries with laxer laws is both risky and expensive, and there isn’t always any regulation to ensure that treatment actually works. Here are some articles on the subject:
• Nahum Méndez-Sánchez and Misael Uribe, ‘Biomedical research in Mexico, a perspective from the private medical sector’, Medicina Universitaria 14/54 (January 2012), pp. 37–41: https://www.elsevier.es/en-revista-medicina-universitaria-304-articulo-bio-medical-research-in-mexicoperspective-X1665579612234379.
• Guillermo Aquino-Jarquin, ‘Tighten up Mexico’s regulations on human gene editing’, Nature (26 February 2019): https://www.nature.com/articles/d41586-019-00666-0.
• Vanessa Nason, ‘The dangerous practice of seeking medical treatments abroad’, Vice [website] (25 October 2016): https://www.vice.com/en_us/article/qbnjw5/the-dangerous-practice-of-seeking-medicaltreatments-abroad.
1 Article in New Scientist about Irina Conboy and others: Michael Le Page, ‘We’re nearly ready to use CRISPR to target far more diseases’, New Scientist (2 October 2017): https://www.newscientist.com/article/2149129-werenearly-ready-to-use-crispr-to-target-far-more-diseases/.
2 The two scientific articles below look at how CRISPR can be used in medical science:
• Kiran Musunuru, ‘The hope and hype of CRISPR-Cas9 genome editing. A review’, JAMA Cardiology 2/8 (August 2017), pp. 914–19: https://jamanetwork.com/journals/jamacardiology/article-abstract/2632329.
• Odatha W. Kotagama et al., ‘Era of genomic medicine: a narrative review on CRISPR technology as a potential therapeutic tool for human diseases’, BioMed Research International 2019 (2019): https://www.hindawi.com/journals/bmri/2019/1369682/abs.
But there are also articles that draw attention to problems, such as F. Baylis, ‘Counterpoint: the potential harms of human gene editing using CRISPR-Cas9’, Clinical Chemistry 64/3 (March 2018), pp. 489–91: http://clinchem.aaccjnls.org/content/64/3/489.abstract.
3 A list of all the known diseases caused by a single gene (which totalled 6,538 in November 2019) can be found on the website OMIM Gene Map Statistics: https://www.omim.org/statistics/geneMap.
Another source of information about such disorders is the NCBI webpage ‘Single-gene disorders’: https://www.ncbi.nlm.nih.gov/books/NBK132154/.
4 Article about the babies treated for bubble boy syndrome: Heidi Ledford, ‘Experimental gene therapy frees “bubbleboy” babies from a life of isolation’, Nature (17 April 2019): https://www.nature.com/articles/d41586-019-01257-9.
Scientific article about the treatment of the babies with bubble boy syndrome: Ewelina Mamcarz et al., ‘Lentiviral gene therapy combined with low-dose busulfan in infants with SCID-X1’, New England Journal of Medicine 380 (18 April 2019), pp. 1525–34: https://www.nejm.org/doi/full/10.1056/NEJMoa1815408.
5 Scientific article reviewing a variety of methods for delivering CRISPR to the body: Christopher A. Lino et al., ‘Delivering CRISPR: a review of the challenges and approaches’, Drug Delivery 25/1 (2018), pp. 1234–57: https://www.tandfonline.com/doi/full/10.1080/10717544.2018.1474964.
6 News article about the first ever attempt to inject CRISPR into the body: Jocelyn Kaiser, ‘A human has been injected with gene-editing tools to cure his disabling disease. Here’s what you need to know’, Science (15 November 2017): https://www.sciencemag.org/news/2017/11/human-hasbeen-injected-gene-editing-tools-cure-his-disablingdisease-here-s-what-you.
An article in the New York Post a few months later indicated that everything seemed to have gone well: ‘Scientists see positive results from 1st-ever geneediting therapy’ (6 February 2018): https://nypost.com/2018/02/06/scientists-see-positive-results-from-1stever-gene-editing-therapy/.
7 News article about a clinical trial involving the use of CRISPR in an attempt to cure a genetic eye disorder: ‘Eye disorder the focus of new clinical trial using highly touted CRISPR technology’, American Optometric Association [website] (29 August 2019): https://www.aoa.org/news/clinical-eye-care/eye-disorder-crispr-technology.
8 News article about the possible ways in which CRISPR could be applied to foetuses in the womb: Megan Molteni, ‘CRISPR gene editing is coming for the womb’, Wired (14 April 2019): https://www.wired.com/story/crispr-gene-editing-is-coming-for-the-womb/.
9 Despite improvements in recent years, the statistics on HIV and AIDS are sobering. The figures quoted here are taken from hiv.gov, a US government site: https://www.hiv.gov/hiv-basics/overview/data-and-trends/global-statistics.
10 News article summarizing the situation as regards the hope of curing HIV with the help of CRISPR: Jon Cohen, ‘Curing HIV just got more complicated. Can CRISPR help?’, Science (15 March 2019): https://www.sciencemag.org/news/2019/03/curing-hiv-just-got-more-complicated-can-crispr-help.
11 A scientific article: Jane M. Carlton, ‘Evolution of human malaria’, Nature Microbiology 3 (24 May 2018), pp. 642–3: https://www.nature.com/articles/s41564-018-0170-2.
12 It’s fascinating to see how a disease like sickle-cell anaemia was able to evolve and how it has persisted. The following article gives a good overview of the disease: Pardis C. Sabeti, ‘Natural selection: uncovering mechanisms of evolutionary adaptation to infectious disease’, Scitable [website] (2008): https://www.nature.com/scitable/topicpage/natural-selection-uncovering-mechanisms-ofevolutionary-adaptation-34539/.
Also: Graham R. Serjeant, ‘The natural history of sickle cell disease’, Cold Spring Harbor Perspectives in Medicine [website] 3/10 (October 2013): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784812/.
The following scientific article shows that the disease is still subject to positive selection because of malaria: Eric Elguero et al., ‘Malaria continues to select for sickle cell trait in Central Africa’, PNAS 112/22 (May 2015), pp. 7051–4: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460506.
13 A news article about the various studies into the use of CRISPR to combat sickle-cell anaemia that are already under way or shortly to be launched: Usha Lee McFarling, ‘More than a half-dozen teams are pursuing genetic therapies for sickle cell’, Stat [website] (21 February 2018): https://www.statnews.com/2018/02/21/sickle-cell-genetic-therapies/.
A report on one of the ongoing studies: Rob Stein, ‘A patient hopes gene-editing can help with pain of sickle cell disease’, NPR [website] (10 October 2019): https://npr.org/section/health-shots/2019/10/10/766765780/after-a-life-ofpainful-sickle-cell-disease-a-patient-hopes-gene-editingcan-hel.
14 A report by the US Food and Drug Administration (FDA) on the problems facing patients with sickle-cell anaemia: ‘The voice of the patient’ (October 2014): https://www.fda.gov/media/89898/download.
A news article on the difficulties patients are confronted with: Sharon Begley, ‘“Every time it’s a battle”: in excruciating pain, sickle cell patients are shunted aside’, Stat [website] (18 September 2017): https://www.statnews.com/2017/09/18/sickle-cell-pain-treatment/.
15 The story of the Tuskegee study is appalling. Here is a good account of what happened and the long-term effects: Vann R. Newkirk II, ‘A generation of bad blood’, Atlantic (17 June 2016): https://www.theatlantic.com/politics/archive/2016/06/tuskegee-study-medical-distrust-research/487439/. The US Centers for Disease Control and Prevention (CDC) have published a timeline of the Tuskegee study: https://www.cdc.gov/tuskegee/timeline.htm.
16 The Immortal Life of Henrietta Lacks by Rebecca Skloot (New York: Crown Publishing Group, 2010) is a very wellwritten account of the story around the HeLa cells.
17 The goddess Panakeia is mentioned at the beginning of the Hippocratic oath, a set of principles which doctors and dentists swear to uphold in their professional lives. The oath is attributed to Hippocrates, who lived in Greece from approximately 460 to 370 BC. Panakeia and her four sisters represented five aspects of medicine and health: universal health (Panakeia), cleanliness (Hygieia), recuperation (Iaso), healing (Aceso) and splendour, glory and beauty (Aglaea).
1 In the United States, the Neurofibromatosis Network provides information and resources for sufferers and their families: https://www.nfnetwork.org/.
In the UK, resources for people with neurofibromatosis type 1 and other disorders with related symptoms can be found at https://nervetumours.org.uk/.
2 The neurofibromin 1 (NF1) gene consists of 350,000 pairs of bases. For more information on the gene itself and the effects of different mutations, see the following page from the US National Library of Medicine: https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1.
3 There’s an excellent article about this project: Ed Yong, ‘Turning piglets into personalized avatars for sick kids’, Atlantic (13 December 2017): https://www.theatlantic.com/science/archive/2017/12/turning-piglets-into-ersonalizedavatars-for-sick-kids/548204.
4 Here’s an article about the project from the University of Wisconsin-Madison: Kelly April Tyrrell, ‘To help kids battling a rare disease, scientists forge a genetic link between people and pigs’ (19 December 2017): https://news.wisc.edu/nf1/.
10. A Huge Spider’s Web
1 More information about non-coding DNA can be found on the US National Library of Medicine’s webpage ‘What is noncoding DNA?’: https://ghr.nlm.nih.gov/primer/basics/noncodingdna.
2 Despite the Human Genome Project, it’s still not quite clear exactly how many genes we have. The following news article gives a good account of the difficulties we face in establishing the number of genes in the human genome: Cassandra Willyard, ‘New human gene tally reignites debate’, Nature (19 June 2018): https://www.nature.com/articles/d41586-018-05462-w.
3 This involves a huge amount of sophisticated detail. There are genes that don’t code for proteins, but which control other aspects of the process. There are also genes that can produce many different proteins, a phenomenon known as ‘alternative splicing’. This article provides more information: Luv Kashyap and Parul Tripathi, ‘Alternative splicing – how one gene can make many proteins’, Bioscience Explained 4 (2008), pp. 1–10: https://www.semanticscholar.org/paper/Alternative-Splicing-How-one-gene-can-make-many-Kashyap-Tripathi/a7a4e0cf7e019b65ef2547c5b07f5538e1f022cb.
4 A scientific article that gives a good account of how more and more traits are proving to be more complex, and affected by many more genes, than scientists previously thought (one example being height in humans): Evan A. Boyle et al., ‘An expanded view of complex traits: from polygenic to omnigenic’, Cell 169/7 (15 June 2017), pp. 1177–86: https://www.sciencedirect.com/science/article/pii/S0092867417306293.
5 The hereditary component in our height can even exceed 80 per cent. Here is a scientific article that examines different populations: Karri Silventoinen et al., ‘Heritability of adult body height: a comparative study of twin cohorts in eight countries’, Twin Research and Human Genetics 6/5 (October 2003), pp. 399–408: https://www.cambridge.org/core/journals/twin-research-and-human-genetics/article/heritability-of-adult-body-height-a-comparative-study-oftwin-cohorts-in-eight-countries/3EF884AEA534C90F46F95C9FA3944C84.
6 The link between earwax and breast cancer: Yu Toyoda et al., ‘Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?’, FASEB Journal 23/6 (21 April 2009), pp. 2001–13: https://faseb.onlinelibrary.wiley.com/doi/full/10.1096/fj.09-129098.
7 Large-scale genetic studies of this type are known as ‘genome-wide association studies’ (GWAS for short). Here is a scientific article that gives an account of the technique and its potential: Hafsa Tahir et al., ‘An overview of genome-wide association study for genetics novices: a review’, Advancements in Life Sciences 6/3 (2019): http://submission.als-journal.com/index.php/ALS/article/view/523.
And here is a news item about the technique and its limitations: Brian Resnick, ‘How scientists are learning to predict your future with your genes’, Vox [website] (25 August 2018): https://www.vox.com/science-and-health/2018/8/23/17527708/genetics-genome-sequencing-gwas-polygenic-risk-score.
8 Applying AI and machine learning may be the only way to understand our genes. There are a number of good articles on the subject for those interested in learning more:
• Sarah Webb, ‘Deep learning for biology’, Nature (20 February 2018): https://www.nature.com/articles/d41586-018-02174-z.
• Ashley Yeager, ‘Could AI make gene editing more accurate?’ Scientist (1 May 2019): https://www.the-scientist.com/the-literature/could-ai-make-gene-editing-more-accurate-65781.
• Daniel R. Schrider and Andrew D. Kern, ‘Supervised machine learning for population genetics: a new paradigm trends in genetics’, Cell 34/4 (April 2018), pp. 301–12: https://www.sciencedirect.com/science/article/pii/S0168952517302251.
• Seonwoo Min et al., ‘Deep learning in bioinformatics’, Briefings in Bioinformatics 18/5 (September 2017), pp. 851–69: https://academic.oup.com/bib/article/18/5/851/2562808.
• Eric J. Topol, ‘High-performance medicine: the convergence of human and artificial intelligence’, Nature Medicine 25 (2019), pp. 44–56: https://www.nature.com/articles/s41591-018-0300-7.
9 It’s still not absolutely clear which genes govern a person’s exact eye colour. However, the scientific article referenced here, which aims to clarify the matter, identifies more than 16: Désirée White and Montserrat Rabago-Smith, ‘Genotype-phenotype associations and human eye color’, Journal of Human Genetics 56 (2011), pp. 5–7: https://www,nature.com/articles/jhg2010126#citeas.
11. A Modern-Day Horoscope
1 Two news articles, covering the suspect’s arrest and the legal proceedings a year later:
• Laurel Wamsley, ‘After arrest of suspected Golden State Killer, details of his life emerge’, NPR [website] (26 April 2018): https://www.npr.org/sections/thetwo-way/2018/04/26/606060349/afterarrest-of-suspected-golden-state-killer-details-ofhis-life-emerge.
• Breeanna Hare and Christo Taoushiani, ‘What we know about the Golden State Killer case, one year after a suspect was arrested’, CNN [website] (24 April 2019): https://edition.cnn.com/2019/04/24/us/golden-state-killer-one-year-later/index.html.
2 A news story about how the police identified the rapist: ‘Swede jailed for child rape 24 years ago in groundbreaking court case’, The Local [website] (21 May 2019): https://www.thelocal.se/20190521/swede-jailed-for-child-rape-24-years-ago-in-groundbreaking-court-case/.
For those who read Swedish, here’s an article about the change in the law: ‘Lagändring ger polisen möjlighet att söka efter okända gärningsmäns familj i DNA-register’, Dagens Juridik [website] (28 January 2019): https://www.dagensjuridik.se/nyheter/lagandring-ger-polisen-mojlighetatt-soka-efter-okanda-garningsmans-familj-i-dna-register/.
3 A scientific article about how much of the US population can now be identified using existing DNA data: Yaniv Erlich et al., ‘Identity inference of genomic data using long-range familial searches’, Science 362/6415 (9 November 2018), pp. 690–4: https://science.sciencemag.org/content/362/6415/690.
News article in Science: Jocelyn Kaiser, ‘We will find you: DNA search used to nab Golden State Killer can home in on about 60% of white Americans’ (11 October 2018): https://www.sciencemag.org/news/2018/10/we-will-findyou-dna-search-used-nab-golden-state-killer-can-homeabout-60-white.
4 The familial DNA search method used to find the Golden State Killer has raised many questions about its use:
• Eric Ortiz, ‘Golden State Killer suspect’s capture sparks DNA site privacy fears’, NBC News [website] (27 April 2018): https://www.nbcnews.com/news/us-news/golden-state-killer-suspect-s-capturesparks-dna-site-privacy-n869661.
• Russell Brandom, ‘The DNA technique that caught the Golden State Killer is more powerful than we thought’, The Verge [website] (11 October 2018): https://www.theverge.com/2018/10/11/17964862/family-dna-crime-search-golden-state-killerforensics.
5 A news article on the rapid growth of the market in home gene test kits: Mark Williams, ‘The lucrative rise of DNA testing: “we created the market for what we do”’, Guardian (25 May 2017): https://www.theguardian.com/smallbusiness-network/2017/may/25/dna-testing-we-createdthe-market-for-what-we-do-living-dna-dnafit-geneu.
An article in MIT Technology Review: Antonio Regalado, ‘More than 26 million people have taken an at-home ancestry test’ (11 February 2019): https://www.technologyreview.com/s/612880/more-than-26-millionpeople-have-taken-an-at-home-ancestry-test/.
6 Scientific article about the population structure of Iceland: J. T. Williams, ‘Origin and population structure of the Icelanders’, Human Biology 65/2 (April 1993), pp. 167–91: https://www.ncbi.nlm.nih.gov/pubmed/8449480.
7 News article about the genetic quest for Niall: Aoife McLysaght, ‘The genetic imprint of Niall of the Nine Hostages’, Irish Times (24 April 2014): https://www.irishtimes.com/news/science/the-genetic-imprint-of-niallof-the-nine-hostages-1.1771373.
8 Many journalists have produced good, interesting articles and radio programmes about the problems of using gene tests to investigate one’s origins, including interviews with many scientists. Here are a couple of suggestions:
• Rose Eveleth, ‘We are family’ [an episode of the Flash Forward podcast] (5 June 2018): https://www.flashforwardpod.com/2018/06/05/we-are-family/.
• Kristen V. Brown, ‘How DNA testing botched my family’s heritage, and probably yours, too’, Gizmodo [website] (16 January 2018): https://gizmodo.com/how-dna-testing-botched-my-familys-heritage-and-probab-1820932637.
Journalists have also written about how gene tests can reveal family secrets: Rachel Cooke, ‘Dani Shapiro: “Science will bring an end to these family secrets”’, Guardian (9 June 2019): https://www.theguardian.com/global/2019/jun/09/dani-shapiro-science-will-bring-anend-to-these-family-secrets-inheritance.
9 Angelina Jolie’s op-ed: ‘My medical choice’ (14 May 2013): https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html.
10 Mary-Claire King discovered the connection between mutations in BRCA1 and BRAC2. The article referenced here gives a very interesting account of her life and work: Alice Park, ‘Lessons from the woman who discovered the BRCA cancer gene’, Time (2 June 2014): https://time.com/2802156/lessons-from-the-woman-who-discoveredthe-brca-cancer-gene/.
11 There are many good articles about problems with gene testing kits for home use. I can recommend the following:
• Amit Katwala, ‘The spurious, questionable science behind DNA testing kits’, Wired (30 May 2019): https://www.wired.co.uk/article/dna-testing-kits-science.
• Antonio Regalado, ‘How to spend $1900 on gene tests without learning a thing’, MIT Technology Review (18 October 2017): https://www.technologyreview.com/s/609103/how-to-spend-1900-on-gene-testswithout-learning-a-thing/.
• ‘Why you should be careful about 23andMe’s health test’, New York Times (1 February 2019): https://www.nytimes.com/interactive/2019/02/01/opinion/23andme-cancer-dna-test-brca.html.
12 The scientific article on the apple juice study: Stephan W. Barth et al., ‘Moderate effects of apple juice consumption on obesity-related markers in obese men: impact of dietgene interaction on body fat content’, European Journal of Nutrition 51/7 (October 2012), pp. 841–50: https://link.springer.com/article/10.1007%2Fs00394-011-0264-6.
13 The quotations from Veritas Genetics and Helix are taken from Kristen V. Brown, ‘The next pseudoscience health craze is all about genetics’, Gizmodo [website] (15 February 2017): https://gizmodo.com/the-next-pseudosciencehealth-craze-is-all-about-geneti-1792194708.
14 Doctors and scientists are now beginning to call for such tests to be more strictly regulated.
• Hannah Devlin, ‘Senior doctors call for crackdown on home genetic testing kits’, Guardian (21 June 2019): https://www.theguardian.com/science/2019/jul/21/senior-doctors-call-for-crackdown-on-homegenetic-testing-kits.
• ‘Genetic tests: Experts urge caution over home testing’, BBC News [website] (17 October 2019): https://www.bbc.com/news/health-50069155.
The problem is also summarized in the following scientific article: Rachel Horton et al., ‘Direct-to-consumer genetic testing’, British Medical Journal 367 (2019): https://www.bmj.com/content/367/bmj.l5688.
15 Plenty of dubious attempts are being made to map genes and link them with everything from income to taste in wine. There are many good articles on the subject that fall slightly outside the scope of this book, but I recommend the following: Megan Molenti, ‘Researchers want to link your genes and income – should they?’, Wired (12 April 2019): https://www.wired.com/story/researchers-want-tolink-your-genes-and-incomeshould-they/.
16 A number of good articles have appeared about how test data is sold on. Here are a few to begin with:
• Karlin Lillington, ‘Don’t buy online DNA ancestry tests. You are the real product’, Irish Times (29 November 2018): https://www.irishtimes.com/business/technology/don-t-buy-online-dna-ancestrytests-you-are-the-real-product-1.3713619.
• ‘Who’s making money from your DNA?’ [article adapted by Philippa Fogarty from a programme on the BBC World Service presented by Manuela Saragosa and produced by Laurence Knight, broadcast on 27 February 2019]: https://www.bbc.com/worklife/article/20190301-how-screeningcompanies-are-monetising-your-dna.
• Erin Brodwin, ‘After you spit into a tube for a DNA test like 23andMe, experts say you shouldn’t assume your data will stay private forever’, Insider Inc. [website] (16 February 2019): https://www.businessinsider.com/privacy-security-risksgenetic-testing-23andme-ancestry-dna-2019-2?r=US&IR=T.
• Nicole Martin, ‘How DNA companies like ancestry and 23andMe are using your genetic data’, Forbes (5 December 2018): https://www.forbes.com/sites/nicolemartin1/2018/12/05/how-dna-companies-likeancestry-and-23andme-are-using-your-genetic-data/.
17 Some good articles about gene doping, genetic testing in sport and the possible implications of these phenomena:
• G. Gregory Haff, ‘Will the genetic screening of athletes change sport as we know it?’, The Conversation [website] (8 September 2019): https://theconversation.com/will-the-genetic-screening-ofathletes-change-sport-as-we-know-it-122781.
• Colin Moran, ‘Explainer: what is gene doping – and will any athletes at Rio 2016 have tried it?’ The Conversation [website] (8 August 2016): https://theconversation.com/explainer-what-is-genedoping-and-will-any-athletes-at-rio-2016-havetried-it-63230.
• Kristen V. Brown, ‘The search for the Olympian gene’, Gizmodo [website] (21 February 2018): https://gizmodo.com/the-search-for-the-olympian-gene-1822975337.
18 A very well-written report on China’s genetic tests on Uighurs: Sui-Lee Wee, ‘China uses DNA to track its people, with the help of American expertise’, New York Times (21 February 2019): https://www.nytimes.com/2019/02/21/business/china-xinjiang-uighur-dna-thermo-fisher.html?wpisrc=nl_today_world&wpmm=1.
(A quotation from the article: ‘From 2016 to 2017, nearly 36 million people took part in it, according to Xinhua, China’s official news agency. The authorities collected DNA samples, images of irises and other personal data, according to Uighurs and human rights groups. In patent applications filed in China in 2013 and 2017, ministry researchers described ways to sort people by ethnicity by screening their genetic makeup. They took genetic material from Uighurs and compared it with DNA from other ethnic groups. In the 2017 filing, researchers explained that their system would help in “inferring the geographical origin from the DNA of suspects at crime scenes”.’)
• The Human Rights Watch report: ‘China: minority region collects DNA from millions’ (13 December 2017): https://www.hrw.org/news/2017/12/13/china-minority-region-collects-dna-millions.
• One of many reports on the appalling ‘re-education camps’: Chris Buckey, ‘China is detaining Muslims in vast numbers. The goal: “transformation”’, New York Times (8 September 2018): https://www.nytimes.com/2018/09/08/world/asia/china-uighurmuslim-detention-camp.html.
Here are two books that examine the links between genes, heredity and origins, both written by fine science journalists:
• Carl Zimmer, She Has Her Mother’s Laugh: The Powers, Perversions and Potential of Heredity (New York: Dutton, 2018).
• Adam Rutherford, A Brief History of Everyone Who Ever Lived (London: Weidenfeld & Nicolson, 2016).
Winding up this chapter, I have a couple of final comments and some extra reading for those who find the topic as fascinating as I do and have managed to get this far. I’m delighted you’ve found your way to this last section!
• One of the problems with linking genome-wide association studies to both diseases and heredity is the highly skewed nature of the population screened. Various scientists are working to include more people and more data from under-represented population groups. There’s a good account of these efforts in Giorgia Guglielmi, ‘Facing up to injustice in genome science’, Nature (16 April 2019): https://www.nature.com/articles/d41586-019-01166-x.
• One aspect of genetics and origins I don’t cover in this book is the issue of human ‘races’. There are good reasons for its omission, as the concept of ‘race’ lacks any scientific foundation. It is rooted in obsolete ideas about human genetics. To find out more, the following article provides a good starting point: Elizabeth Kolbert, ‘There’s no scientific basis for race – it’s a made-up label’, National Geographic (12 March 2018): https://www.nationalgeographic.com/magazine/2018/04/race-genetics-science-africa/.
12. A Place You Didn’t Think Existed
1 Gattaca, written and directed by Andrew Niccol, is well worth watching. For more details, see IMDb: https://www.imdb.com/title/tt0119177/.
2 Jackie Leach Scully is now (2021) professor of bioethics and director of the Disability Innovation Institute at the University of New South Wales (UNSW). She is the author of many important texts, including the following:
• ‘Disability and the challenge of genomics’, in Sahra Gibbon et al., eds, Routledge Handbook of Genomics, Health and Society (London: Routledge, 2018): https://www.crcpress.com/Routledge-Handbook-of-Genomics-Health-and-Society/Gibbon-Prainsack-Hilgartner-Lamoreaux/p/bok/9781138211957.
• ‘Feminist empirical bioethics’, in Jonathan Ives et al., eds, Empirical Bioethics: Theoretical and Practical Perspectives (Cambridge: Cambridge University Press, 2017): https://www.cambridge.org/core/books/empirical-bioethics/empiricalbioethicstheoretical-and-practical-perspectives/AC0084D3368B82C3AA6D15BBBB6602DC.
• ‘Choice, chance, and acceptance’, in Erik Parens and Josephine Johnston, eds, Human Flourishing in an Age of Gene Editing (New York: Oxford University Press, 2019): https://oxford.universitypressscholarship.com/view/10.1093/oso/9780190940362.001.0001/oso-9780190940362-chapter-11.
3 Much has been written about experimental attempts to create chimeras, creatures that are a mix of different animals, and sometimes of animals and humans. All the relevant references are given here:
• A long article about Juan Carlos Izpisua Belmonte and his research, from which the quotation in the chapter is taken: Erika Hayasaki, ‘Better living through Crispr: growing human organs in pigs’, Wired (9 March 2019): https://www.wired.com/story/belmonte-crispr-human-animal-hybrid-organs/.
• A scientific article about creating rat–mouse chimeras: Jun Wu et al., ‘Interspecies chimerism with mammalian pluripotent stem cells’, Cell 168/3 (26 January 2017), pp. 473–86: https://www.cell.com/cell/fulltext/S0092-8674(16)31752-4.
• News article on scientists who created embryos with human and pig cells: Erin Blakemore, ‘Human – pig hybrid created in the lab – here are the facts’, National Geographic (26 January 2017): https://www.nationalgeographic.com/news/2017/01/human-pig-hybrid-embryo-chimera-organs-healthscience/.
• News article about scientists who created embryos with human and sheep cells: Michael Greshko, ‘Sheep–human hybrids made in lab – get the facts’, National Geographic (18 February 2018): https://www.nationalgeographic.com/news/2018/02/sheephuman-hybrids-chimeras-crispr-organ-transplanthealth-science/.
Chinese scientists have combined stem cells from human embryos with rabbit embryos. New Scientist published the following article on this research: Philip Cohen, ‘Human–rabbit embryos intensify stem cell debate’ (15 August 2003): https://www.newscientist.com/article/dn4060-human-rabbit-embryos-intensify-stem-cell-debate/.
4 For information about the shortage of donor organs, see https://www.organdonor.gov/statistics-stories/statistics. html (US) and https://www.organdonation.nhs.uk/helpingyou-to-decide/about-organ-donation/statistics-about-organdonation/(UK). Again, I recommend Susanne Lundin’s book Organs for Sale: An Ethnographic Examination of the International Organ Trade (Basingstoke: Palgrave Macmillan, 2015).
5 A scientific article outlining historical attempts to transplant animal organs to humans: David K. C. Cooper et al., ‘A brief history of xenotransplantation’, International Journal of Surgery 23 (November 2015), pp. 205–10: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684730/.
6 News article about Su Bing’s experiment: Antonio Regalado, ‘Chinese scientists have put human brain cells in monkeys – and yes, they may be smarter’, MIT Technology Review (10 April 2019): https://www.technologyreview.com/s/613277/chinese-scientists-have-put-human-braingenes-in-monkeysand-yes-they-may-be-smarter/.
• Su Bing defends the experiments in which he transferred human genes to monkeys to modify their brains: Ben Westcott and Serenitie Wang, ‘Chinese scientists defend implanting human gene into monkeys’ brains’, CNN [website] (12 April 2019): https://edition.cnn.com/2019/04/12/asia/monkeybrain-human-china-intl/index.html.
• A scientific article examining the ethics of genetically modifying apes to make them more like humans: Marilyn E. Coors et al., ‘The ethics of using transgenic non-human primates to study what makes us human’, Nature Reviews Genetics 11/9 (September 2010), pp. 658–62: https://www.ncbi.nlm.nih.gov/pubmed/20717156.
7 Many kinds of research into the dream of optimizing the human body are currently under way. In October 2017, the Wilson Center released a report on the state of play and what may be possible in future: ‘How to optimize human biology: where genome editing and artificial intelligence collide’: https://www.scribd.com/document/361235830/How-to-Optimize-Human-Biology-Where-Genome-Editing-and-Artificial-Intelligence-Collide#download.
8 There are many ongoing studies into different ways of using CRISPR to heal or treat various diseases. The list of these studies is constantly changing, so references to particular studies are soon outdated. However, the following website gives a good account of the state of play as regards a number of diseases, the people working on them, and the next stage in the research: Meenakshi Prabhune, ‘Diseases CRISPR could cure: latest updates on research studies and human trials’, Synthego [website] (17 December 2018): https://www.synthego.com/blog/crispr-cure-diseases.
An article about ongoing efforts to find a cure for motor neurone disease (amyotrophic lateral sclerosis): Luke Dormehl, ‘With CRISPR, geneticists have a powerful new weapon in the battle against ALS’, Digital Trends [website] (22 December 2017): https://www.digitaltrends.com/cool-tech/crispr-als-treatment/.
There are several studies under way on the use of CRISPR to tackle viral diseases for which no vaccine exists. See Paul Biegler, ‘CRISPR hope for vax-resistant disease treatment’, Cosmos (20 May 2019): https://cosmosmagazine.com/biology/crispr-hope-for-vax-resistant-disease-treatment.
The following provide information about some rather more ambitious proposals:
• The World Economic Forum has produced a report on ‘How to optimize human biology’: (10 November 2017): https://www.weforum.org/agenda/2017/11/how-to-optimize-human-biology.
• David Masci, ‘Human enhancement: the scientific and ethical dimensions of striving for perfection’, Pew Research Center [website] (26 July 2016): https://www.pewresearch.org/science/2016/07/26/human-enhancement-the-scientific-and-ethicaldimensions-of-striving-for-perfection/.
• Nick Bilton, ‘The “black ball” hypothesis: is gene editing more dangerous than nuclear weapons?’, Vanity Fair (28 November 2018): https://vanityfair.com/news/2018/11/is-gene-editing-moredangerous-than-nuclear-weapons.
For a more general philosophical text on the ethics of human enhancement and transhumanism, I can recommend Karim Jebari’s doctoral thesis: Human Enhancement and Technological Uncertainty: Essays on the Promise and Peril of Emerging Technology (Stockholm: KTH Royal Institute of Technology, 2014).
9 I write about resurrecting extinct animals and using gene drives in my book The Re-Origin of Species (London: Scribe, 2018).
10 There’s a great article in The Atlantic about how Ginkgo is trying to get us to love genetic modification: Sara Zhang, ‘Can this company convince you to love GMOs?’ (12 February 2018): https://www.theatlantic.com/science/archive/2018/02/ginkgo-bioworks-gmos/552374/.
American scientists are trying to apply CRISPR to yeast to make wine that doesn’t leave you with a hangover: Phyllis Picklesimer, ‘“Jailbreaking” yeast could amp up wine’s health benefits, reduce morning-after headaches’, ACES News [website] (16 March 2015): https://aces.illinois.edu/news/jailbreaking-yeast-could-amp-wines-health-benefitsreduce-morning-after-headaches.
11 Scientists hope that viruses modified using CRISPR can become a new weapon in the battle against antibiotic-resistant bacteria: Jessica Miley, ‘CRISPR edited viruses are the new enemy of superbugs’, Interesting Engineering [website] (23 May 2019): https://interestingengineering.com/crispr-edited-viruses-are-the-new-enemy-of-superbugs.
12 The question of how we should use gene technology is largely about which traits we view as positive or potentially advantageous. It can sometimes be useful to look at things from a different angle. For instance, the article below argues that people with physical disabilities may actually be those best suited to space travel. In outer space, it’s much easier to empty an ostomy bag, for example, than to go to the toilet. Rose Eveleth, ‘It’s time to rethink who’s best suited for space travel’, Wired (27 January 2019): https://www.wired.com/story/its-time-to-rethink-whos-best-suited-for-space-travel/.
Epilogue – Do You Suffer from Freckles?
1 Here’s an amusing, light-hearted news article about the genetics behind red hair, with a headline that holds some added appeal as far as I’m concerned: Susannah Cahalan, ‘Science shows redheads have genetic superpowers’, New York Post (2 December 2017): https://nypost.com/2017/12/02/science-shows-redheads-have-genetic-superpowers/.
The following scientific article contains rather more detailed information: Michael D. Morgan, ‘Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability’, Nature Communications 9 (2018): https://www.nature.com/articles/s41467-018-07691-z.
2 Stephen Hawking’s motor neurone disease (amyotrophic lateral sclerosis) would have guaranteed that he was never even born in the first place. Although it’s harder to say what would have happened to the mathematician Ada Lovelace, the fact that she died young from uterine cancer suggests that she may have carried genes that increased the risk of cancer.
3 Yuval Noah Harari compares the revolution in biology with the revolution in physics in his books Homo Deus: A Brief History of Tomorrow (first published in English in 2016) and 21 Lessons for the Twenty-First Century (first published in English in 2018).
4 There are problems inherent in viewing the body and the brain as a computer, as pointed out by journalist Kirsten V. Brown in the following article: ‘The body is not a computer – stop thinking of it as one’, Gizmodo [website] (12 May 2017): https://gizmodo.com/the-body-is-not-a-computerstop-thinking-of-it-as-one-1795067037.
Another aspect of regarding the body as a machine is the very limiting nature of such a view. Rose Eveleth has written an excellent piece on how wrong-headed such a way of thinking could be: ‘Transhumanism is tempting – until you remember Inspector Gadget’, Wired (27 May 2019): https://www.wired.com/story/what-inspector-gadget-canteach-us-about-transhumanism/.
5 If you’ve got this far, you deserve a cake! Here’s a recipe for a delicious, chocolatey Sachertorte: https://www.seriouseats.com/recipes/2012/01/sachertorte-viennesechocolate-cake-apricot-recipe.html.