Przemek Tomalski

@tomalski.bsky.social

Res Prof Inst of Psychology, Polish Academy of Science, head of BabylabPAN, Warsaw, Poland I study infant neurocognitve development-body movement, attention, speech and social interactions. Views are mine.

Today marks the 25th anniversary (😯) of our publication on discovery of FOXP2. To commemorate, I’ll repost a few prior threads about the gene. Here’s my explainer of how we tracked down FOXP2 & implicated it in speech/language deficits, in the days before completion of the human genome project.🗣️🧬🧪👇

Simon Fisher@profsimonfisher.bsky.social · last yr.

Twenty-four years ago today, our paper “A forkhead-domain gene is mutated in a severe speech and language disorder” was published: www.nature.com/articles/350.... A personal thread about the ups & downs of the journey we took to get to that point....1/n 🗣️🧬🧪

Image shows the first two printed pages of the paper “A forkhead-domain gene is mutated in a severe speech and language disorder” by Cecilia Lai and colleagues, published in Nature in 2001 (volume 413, pages 519-523). The abstract reads as follows:
Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or neurological impairment and despite adequate intelligence and opportunity. Although studies of twins consistently indicate that a significant genetic component is involved, most families segregating speech and language deficits show complex patterns of inheritance, and a gene that predisposes individuals to such disorders has not been identified. We have studied a unique three-generation pedigree, KE, in which a severe speech and language disorder is transmitted as an autosomal-dominant monogenic trait. Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7. We also identified an unrelated individual, CS, in whom speech and language impairment is associated with a chromosomal translocation involving the SPCH1 interval. Here we show that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is directly disrupted by the translocation breakpoint in CS. In addition, we identify a point mutation in affected members of the KE family that alters an invariant amino-acid residue in the forkhead domain. Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language.

It is beyond the time point where people can claim ignorance of Musk’s behaviors. Anyone who uses his products, purchases anything from him is making a moral or ethical decision on where they stand on issues of neo Nazism, racism and fascism.

Max Berger@maxberger.bsky.social · 3mo ago

Elon Musk is a neo-Nazi, but most of the political and media establishment give him a pass—and continue to use his propaganda website. Incredible piece from @jamellebouie.net with the receipts.

EXCELLENT: The Netherlands new OA policy seems to be well thought through obc.copim.pub/when-scaling... Policy explicitly recommends redirection & reallocation of funds from existing ‘big deal’ budgets towards community-driven alternatives, incl university-led diamond OA & Netherlands Uni Presses

When 'scaling small' becomes national policy

The Netherlands' new open access strategy echoes the principles the Open Book Collective was built on - 'scaling small' and community-led publishing

obc.copim.pub

Function is not tied to specific brain structures or time scales. The brain is not just a set of parts that each “do their own job”. Instead, networks are multifunctional and active across different speeds simultaneously. doi.org/10.1073/pnas... #neuroscience

Shared spatial and temporal principles govern connectome dynamics across timescales | PNAS

While the brain processes information at various speeds, little is known about how the functional connectome can concurrently support multiple spee...

doi.org

Contrast sensitivity is a critical but underused measure of vision, linked to falls and loss of independence in older adults. Using @nhats-nsoc.bsky.social, Shu Yu et al identify a threshold where older adults begin experiencing visual disability—a benchmark for interpreting measures. myumi.ch/NXM3G

A Clinically Relevant Threshold of Impaired Contrast Sensitivity Among Older US Adults

This cohort study aims to identify a contrast sensitivity threshold associated with functional visual disability among Medicare beneficiaries aged 65 years and older in the US.

myumi.ch

Semyon Skrepetsky was an artist known for political paintings and happenings ridiculing putin and russian establishment. He was shot yesterday in Poland by "unknown" perpetrators who traveled there from Belarus. Read the alt text for explanations.

Good point re social media bans for children: we are unable to properly regulate them or addictive algorithms so we tens to opt for seemingly “easy” but extreme option of total social media ban for children. Are we really unable to force BigTech to accept tougher regulation?

Prof Sarah-Jayne Blakemore@sjblakemore.bsky.social · 5mo ago

SOCIAL MEDIA BANS! Last week, Professor Denis Mareschal, Dr Dusana Dorjee and I gave evidence to the Select Committee for Science, Innovation and Technology's Neuroscience and Digital Childhoods Inquiry. (Transcript/recordinG available on the UK Parliament website for anyone interested.) 1/4