In our new #GenLang preprint by Else Eising et al, we use genomics to investigate reading- & language-related skills in up to 34,000 people, directly assessed via psychometric testing. Years-long initiative uniting efforts of many dedicated colleagues: biorxiv.org/content/10.110… 1/n
Our capacities for spoken & written language are central human traits but biological bases remain largely unknown. One way to gain insights is to identify genetic contributions to individual differences in relevant skills & use those as windows into neurobiology & evolution. 2/n
Reading-/language-related traits are genetically complex; we need large samples to robustly analyse association with DNA polymorphisms. Our international GenLang network brings together experts & cohorts of multiple sites to enable largescale harmonized research in this area. 3/n
Preprint integrates genomewide association data from up to 22 cohorts in which people took tests of word/nonword reading, spelling, phoneme awareness & nonword repetition. We find significant association on chromosome 1, independent of known loci associated with intelligence. 4/n
For GenLang, common DNA variants index 13-26% of variation in the measured skills. In our genomic structural equation models, a shared genetic factor explains most variation in reading, spelling & phoneme awareness, & only partial overlap with nonword rep & general cognition. 5/n
We find significant genetic correlations between individual differences in reading-/language-related skills & variability in cortical surface area for the banks of the left superior temporal sulcus, a brain region with known links to processing of spoken & written language. 6/n
Our evolutionary analyses shows enriched heritability for reading-/language-related traits in Neanderthal-depleted genomic regions: loci thought to have been intolerant to the gene flow from Neanderthal populations into Homo sapiens which took place around 50-60K years ago. 7/n
Beyond specific scientific findings of the study, it's a demonstration of how multisite collaboration, data sharing, & team science can open up new horizons for investigating the biology of language & literacy. Excited about what the future holds for this field.
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Twenty years ago today, our paper “A forkhead-domain gene is mutated in a severe speech & language disorder” was published: nature.com/articles/35097…. To mark the occasion, a personal thread about the journey we took to get to that point. 1/n
Learning about human genetics as an undergrad, I found one emerging area of the field especially enticing. Scientists were discovering causes of major inherited disorders purely by analysing DNA of affected families, without needing prior knowledge of the biological pathways.
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It was captivating how this elegant detective work zeroed in on the genetic disruptions in Duchenne muscular dystrophy, cystic fibrosis & retinoblastoma (among others), yielding insights into underlying mechanisms that might never have been uncovered by alternative methods. 3/n
Remember when you first learned about genetics at school? All those fascinating examples of human traits that are each determined by just a single gene? Time to check in on some of your favourites to see how they’re doing...1/n
Starting with a classic: the delicate art of tongue-rolling. Some people can roll sides of the tongue into a U-shape, others can’t. It’s commonly taught that this invaluable skill is controlled by one gene with dominant inheritance. But the idea was debunked decades ago...2/n
This most stubborn of gene myths began in 1940 with musings by genetic-mapping pioneer Alfred Sturtevant. Already by 1952, further family/twin studies had refuted monogenic inheritance. Sturtevant recanted but watched in dismay as his folly became a standard in schoolbooks...3/n
Collecting together my earlier Twitter threads exploring popular misconceptions about genetics. A thread of threads, beginning with a brief guide to heritability:
Next on the thread of threads, the confusing power of soundbites. Or, why you share 98.8% of your genes with a chimpanzee, but only 50% with your human sibling:
Striking images can make scientific ideas accessible to people from all walks of life. But some such pictures do more damage than good, seeding confusion & fueling widespread misconceptions of an essential topic. Two iconic images & (mis)understanding evolution — a thread...1/10
First, an instantly recognizable image that, in our collective consciousness, has become inextricably tied to the very concept of evolution itself. Tragically for one of the most famous scientific illustrations ever, it is fundamentally flawed, & a potent driver of fallacy. 2/10
Key background re origins of Exhibit A. The Road to Homo Sapiens (aka The March of Progress) was created by natural history artist Rudolph Zallinger for a 1965 Time-Life publication “Early Man”. The full version was a multipage annotated foldout including 15 aligned figures. 3/10
Links between genes & traits are complex & convoluted. But with the rise of genomic technologies perhaps it's no surprise that some people want to sell you lifestyle advice/products they claim are tailor-made for your DNA profile. Here's an example, h/t @AdamRutherford. 1/6
Let's talk "DNA personalized skincare", summed up by this screenshot from a website promoting it. (See: newstjohns.com/dna-personaliz…) The article mentions costs of $90-$200 for an at-home test kit & that on-site testing with some companies could set you back as much as $1,000. ...2/6
That piece alludes to a UK company GENEU. You can read about their DNA lab-on-a-chip approach to bespoke skincare here: trulyexperiences.com/blog/the-scien…
After a visit to GENEU, the author notes "now that I know the exact rate my skin is degenerating, I will be able to counter nature".3/6
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