Tag Archives: genetics

Emily Anthes discusses how biotechnology is shaping the future of our furry and feathered friends

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American science journalist and author Emily Anthes with her dog, Milo. Image Courtesy of Nina Subin.

American science journalist and author Emily Anthes with her dog, Milo.
Image Courtesy of Nina Subin.

Emily Anthes is a science journalist and author. Her work has appeared in The New York Times, Wired, Scientific American, Psychology Today, BBC Future, SEED, Discover, Popular Science, Slate, The Boston Globe, and elsewhere.

Her book, Frankenstein’s Cat: Cuddling Up to Biotech’s Brave New Beasts, is out in paperback today published by Scientific American/Farrar, Straus and Giroux. It received the 2014 AAAS/Subaru SB&F Prize for Excellence in Science Books. 

Emily is also the author of the Instant Egghead Guide: The Mind (St. Martin’s Press, 2009).

Her blog post, “When a deaf man has Tourette’s,” was selected for inclusion in The Open Laboratory 2010: The Best of Science Writing on the Web.  

Emily has a master’s degree in science writing from MIT and a bachelor’s degree in the history of science and medicine from Yale, where she also studied creative writing. She lives in Brooklyn, New York with her dog, Milo.

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Open Season

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Misha Angrist is the author of Here is a Human Being: At the Dawn of Personal Genomics (HarperCollins), now out in paperback. He teaches at Duke University and blogs at blogs.plos.org/genomeboy.

Us…and Them

And after all we’re only ordinary men.

Roger Waters

As a graduate student, I studied the genetics of Hirschsprung disease, a congenital disorder of the nervous system in the gut (and, as I describe in my book, a disease that would affect my own family many years later). Among the things I found to be most gratifying (and yes, occasionally frustrating) in my doctoral studies were the interactions with Hirschsprung patients and families. We students had pledged our fealty to Science writ large, yes, but we weren’t studying roundworms or fruit flies. Our “subjects” (a descriptor of research participants that, in my opinion, is condescending and should be retired ASAP) were thinking feeling human beings. If we found a highly penetrant mutation in their DNA, it had the potential to alter their reproductive decisions and their lives. It meant something to them.

But even if it didn’t, shouldn’t life scientists-in-training, especially those whose model organism is Homo sapiens, have some sort of mandatory exposure to, you know, life? Should there not be some inevitable, meaningful exchange between researcher and researchee?

Increasingly, community members are beginning to assert this right in various ways: Open Science, PatientsLikeMe, the Society for Participatory Medicine and the Sage Bionetworks Commons are just a few manifestations. The recent ScienceOnline meeting, which embodies the same sort of grassroots ethos, is my favorite science gathering for exactly that reason.

But of course participants in these endeavors are self-selected. How do we reify their approaches on a massive scale? Virally spreading the word, certainly. But it will also require bravery and iconoclasm. Recently I read The Cure, Geeta Anand’s heartbreaking 2006 book about John Crowley’s tireless struggle in the early 2000s to get a treatment developed for his kids, two of whom have the devastating lysosomal storage disorder Pompe disease (the book was the basis for the movie Extraordinary Measures). At one point Crowley is trying to impress upon members of the drug development team at Genzyme the urgency of their task. He organizes a “Pompe Summit,” to which the 200 employees working on the disease are invited, as are patients and their families. “How many of you have ever met a patient?” he asks the Genzymers. Only a handful of hands go up. Even the doc leading the company’s Pompe trial had never met a patient.  Imagine an automotive design engineer never having driven a car. Extraordinary measures indeed.

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The Language of Genetics

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denis.bmp Denis Alexander is this week’s guest blogger. He has spent 40 years in the biological research community in various parts of the world, latterly as Head of the Laboratory of Lymphocyte Signalling and Development at The Babraham Institute, Cambridge which he left in 2008. Since then he has been heading up the new Faraday Institute for Science and Religion at St. Edmund’s College, Cambridge, where he is a fellow.

I have always been fascinated with the public understanding of science, including the many and varied ways in which scientific ideas can migrate out of the lab to populate the worlds of politics, sociology, popular culture and religion. Since finally closing down my research group in immunology a few years ago, I have had the privilege of indulging some of these interests more fully in a way that the pressures of an active research life didn’t really allow.

Recently we brought a group of historians and philosophers to Cambridge to sit round a table for a few days and discuss all the varied ways in which biology has been used and abused for non-biological purposes from 1600 to the present day. So many are the examples that our challenge was not to find sufficient topics or authors, but to restrict ourselves to a series that would eventually lead to a book of reasonable length. The outcome was Biology and Ideology – From Descartes to Dawkins which came out last year [Denis Alexander and Ronald Numbers (eds), Chicago University Press, 2010]. In turn this interest is leading on to a grants programme in which competitive funding applications will be received during this coming year for research on contemporary ways in which biological ideas are being used for good or for ill, purposes well beyond their original scientific contexts.

The area of genetics is one that seems particularly prone to being reported in the media or in the public domain more generally in dramatised ways that often distort the actual science involved. I was therefore particularly pleased to be approached by a publisher recently to write an introductory book on genetics that would not only introduce the science for a general readership, but also address some of the wider ethical and other questions that genetics raises concerning human value and identity. The result is The Language of Genetics – an Introduction [Darton, Longman and Todd, 14 June 2011] published just a few days ago [N.B. although Amazon has some good offers the Faraday Shop is selling at £12/copy plus p&p starting soon after 27th June].

I am a great believer in making a clear distinction between science and the wider issues that arise from science, finding that when the language and concepts of different disciplines are co-mingled, confusion inevitably results. The Language of Genetics therefore has 11 chapters of straight explanatory science, whereas the wider questions arising from genetics are contained within the final chapter 12.

One of the topics I tackle there is the pervasive idea of genetic determinism – that there are such things as genes “for” musicality, intelligence or being a political liberal. Although I think biologists, with rare and unfortunate exceptions, are generally rather careful to describe in their scientific writings what genes actually do, by the time their discoveries get reported in the media, the head-line for the story too often ends up implying that some complex human behavioural trait is largely determined by a single gene.

The genome wide association studies (GWAS) that have proliferated over the past few years are instructive in this respect. One study was carried out on the variation in height between humans, a trait known to be around 70-80% inheritable. The study based on 180,000 individuals came up with 180 different variant gene regions that correlate with variation in height, yet taken together they explain only around 10% of the inheritability. There is a huge amount of “missing inheritability”. Where is it? Being a bit taller or shorter is complex, involving many aspects of our physical being.

Imagine now the genetics of some complex human behaviour which has a supposed element of inheritability, together with our brains with their 10¹¹ neurons and 10¹4 synapses (the precise number, rather unsurprisingly, depends on the precise volume of your brain) – such a scenario does not readily lend itself to interpretations that depend on genetic determinism.

None of this is to say that genetic variation is irrelevant to who we are as individuals – far from it. But The Language of Genetics highlights the way in which the fertilised egg, with its newly acquired unique genome, is from its very first day onwards in intimate interaction with its environment in all its myriad aspects. Rather than reifying the ‘genome’ and the ‘environment’ as if they were separate entities, it is biologically more accurate to see both aspects as thoroughly intertwined. The fascinating fields of evo-devo (chapter 3) and of epigenetics (chapter 10) do much to highlight that insight.

The science of genetics is a fantastic gift to humankind if used wisely. But the greatest gifts can be the most abused; the best protection remains continued awareness and vigilance.