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It was 20 years ago today that the US President & UK Prime Minister announced the completion of a rough draft of the human genome sequence. My family & friends didn't get why I (a geneticist myself) wasn't as excited for this landmark as they were. 1/4
nature.com/articles/d4158…
Thing is, the publicly funded sequencing effort had been buzzing along well for some time, pieces of data released to the community as they were collected. Most gigging geneticists were already using available human genome data in our work. There was no sudden transformation. 2/4
I am not downplaying the extraordinary achievements involved. But celebrating an arbitrary target (85% of the genome sequenced to a draft standard) felt more like political theatre than science. It might surprise you to hear that, even now, we still didn't fill all the gaps. 3/4
My biggest worry that day was that it set up huge expectations for diagnoses, treatments & cures, at a time when we could barely glimpse the challenges ahead. The pace of genomic advance since then has been breathtaking, but I remain humbled by how much more we need to learn. 4/4
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Simon E. Fisher
@ProfSimonFisher
With UFO sightings again making the headlines in these unsettling times, what we need right now is a thread on aliens, genes & the origins of human language. Buckle up. 1/n
We discovered that rare mutations of FOXP2 cause a severe speech disorder. Over the years, I've spent much time stressing that FOXP2, while interesting, is not the mythical "gene for language". Weirdly, on occasion I've also had to explain why FOXP2 is not "proof of aliens". 2/n
One source of FOXP2-alien nonsense is a TV "documentary" series that aired on the History Channel. In the segment on FOXP2, a man named Giorgio Tsoukalos makes 5-6 statements about the gene, each of which is false. All packed into less than one minute's viewing. Let's dig in. 3/n
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Simon E. Fisher
@ProfSimonFisher
What's it like to be a geneticist? A thread, based on stock photos sampled from the internet.
We begin with an image of a state-of-the-art genetics lab in action. Notice all the flasks & tubing filled with blue liquid, & the smart matching attire of these everyday researchers.1/n
Expertise and precision in examining different coloured liquids is an essential skill in the day-to-day life of a geneticist. 2/n
After looking quizzically at the coloured liquid in the flask, this geneticist is recording the observations on a note pad, for later publication in a top scientific journal, such as Nature or Science. 3/n
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Simon E. Fisher
@ProfSimonFisher
Your genome is not a blueprint. A thread about misleading metaphors in science communication... 1/11
DNA is often referred to as a "blueprint for life". A blueprint is an architect plan, technical drawing or engineering design. Like a blueprint, DNA contains information to guide construction, in this case of a living organism. Beyond that, the analogy rapidly breaks down...2/11
...For blueprints, there's direct 1-to-1 mapping between each element of a design/drawing & its counterpart in the final constructed product. "DNA as a blueprint" implies that individual genes show 1-to-1 mapping with different parts of a body and/or its functions. Not so...3/11
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