Jacob Vorstman

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia Murthy et al. report that monoallelic loss of function variants in the DENND2B gene give rise to an autosomal dominant neurodevelopmental disorder characte

Super stoked to share our paper just out in Brain @brain1878.bsky.social
LoF variants in DENND2B give rise to an autosomal dominant neurodevelopmental condition characterized by developmental delay, intellectual disability, and episodes of psychosis and/or catatonia. tinyurl.com/4k8hr3bj

SORRY, NERDS 5/4 1s DAVE BRUBECK DAY

#MusicSky #MayTheFourth

Autism Science Leader Reacts to RFK Jr.'s Misinformation 'Autism is being oversimplified right now,' says Alycia Halladay

Clear and to the point. @ahalladay.bsky.social only needs a mere 5 minutes to address some of the main points of RFKs April 16th conference on #Autism. Worth the listen and please share.

www.medpagetoday.com/pediatrics/a...

Xavier Le Pichon, Who Modeled Movement of Earth’s Crust, Dies at 87 With a computer rendering, he helped scientists understand that the earth, with its shifting tectonic plates, is “an extraordinary living being” that is “continuously changing.”

What scientists do.

‘Dr. Le Pichon initially defended the notions of a static Earth, but he came to realize that they were incorrect. He returned from the laboratory one day and told his wife, “The conclusions of my thesis are false.”’

Podcast: Plate Tectonics, the Theory That Changed Earth Science - Eos Third Pod from the Sun talks with pioneering geophysicist Xavier Le Pichon about what it was like to be a young scientist challenging deeply held theories.

Xavier Le Pichon, a pioneer in early plate tectonics research died on 22 March. Pichon developed the first global reconstruction of Earth's tectonic plates.
eos.org/articles/pod...

Not only an iconic scientist, but also an impressively humane person. This interview reveals some of his thinking about what it is to be human:

onbeing.org/programs/xav...

Thank you for sharing

Dr Peter Marks, "Vaccines have been studied very extensively for being potentially associated with autism"

"That theory has been debunked"

"One study in Denmark, over 600,000 children. It shows that if anything, children had a lower rate of autism than unvaccinated children"

PS feel free to send me DM if you are paywalled

Xavier Le Pichon, Who Modeled Movement of Earth’s Crust, Dies at 87 With a computer rendering, he helped scientists understand that the earth, with its shifting tectonic plates, is “an extraordinary living being” that is “continuously changing.”

@nytimes.com published a moving obituary of my father in law, who passed away recently. I am forever grateful for his lasting positive impact on my life, and proud of his impressive scientific legacy to the world.
www.nytimes.com/2025/04/09/s...

My dearest father-in-law and precious bon-pappa to our children. He taught me how to be a rigorous scientist to examine life, without reducing life to that what we can examine with science.

🟣 L’Administrateur, l’Assemblée des professeurs et toute la communauté du Collège de France apprennent avec une profonde tristesse le décès de Xavier Le Pichon, professeur émérite du Collège de France, titulaire de la chaire de #Géodynamique (1986-2008).

Toronto shopping street

Half of business owners on this Toronto street estimated that more than 25% of their customers arrived by car.

In fact, it was 4%.

And the % of customers who who walked or cycled? 72%.

Retailers routinely overestimate the # of “car customers.” Via @carltonreid.com www.forbes.com/sites/carlto...

Begum-Ali et al. show that in #neurofibromatosis, changes in visual attention can already be measured during infancy; reporting slower development of endogenous visual foraging and in exogenously-driven saccadic reaction times.

Check it out: jneurodevdisorders.biomedcentral.com/articles/10....

YouTube video by Klikbeet We are here to help... right??? | Klikbeet

Pretty accurate
youtube.com/shorts/N4JwL...

I think there is a typo in your post?

Trudeau pitches high-speed rail, putting surprising new decarbonization options on the table High-speed rail alternatives for travel could open up a suite of decarbonizing options not currently on the table. But politics remains a major obstacle to seeing it built.

Connecting the Toronto-Quebec City corridor with high speed rail could shave 39 million tonnes of carbon pollution in the coming decades, the equivalent of taking nine million gas powered cars off the road for a year, according to project documents.
www.nationalobserver.com/2025/02/20/n...

Reading a classic, I came across this description of our online experience in 2025, which struck me as pretty accurate... (Ray Bradbury, Fahrenheit 451, 1953)

What's lost in the process? Time-wasting thought

Russians mourn Navalny, one of Putin’s biggest critics, on anniversary of his death | CNN Alexei Navalny was a starch opponent of Russian President Vladimir Putin, orchestrating some of the biggest anti-Kremlin protests in the country before his death in a Siberian prison at the age of 47,...

www.cnn.com/2025/02/16/w...

Text

Correct. If the birthdate field contains corrupt or mismatched data, it defaults to 1875-05-20, which serves as a flag. May 20, 1875, is the day the international standards and metrics treaty was signed. Everything is a conspiracy when you don’t know how anything works.

The data for the slides which need to be uploaded by today is expected tomorrow

I'm not your lunch, eh. I wouldn't even taste good without the maple syrup you low flying lunatic.

yes. Btw, I also think it should be "foud" rather than "food". Missed opportounity

China's psychiatric treatment for ‘trouble-makers’ Student among dozens who challenged China’s authorities to have been sent to psychiatric units, BBC finds.

“No one believes more firmly than Comrade Napoleon that all animals are equal. He would be only too happy to let you make your decisions for yourselves. But sometimes you might make the wrong decisions, comrades, and then where should we be?"

bbc.com/news/article...

Applications until Feb 15th

In 1922, a group of scientists went to the Toronto General Hospital where diabetic children were kept in wards. Most of them were dying from diabetic ketoacidosis. The scientists went from bed to bed and injected the children with a new purified extract: it was called insulin.

This is an important shift - the long awaited new Ensembl web site is ready for beta testing - is smooth, scrollable genome loveliness +clean views of the complex information - but @ensembl.bsky.social needs your help to get all the use cases out. Come to the webinar, and check out beta.ensembl.org

This chart titled "The world has passed 'peak child'" shows the historical and projected population of three age groups: young people under 25 years, young people under 15 years, and children under 5 years. Data spans from 1950 to 2100, based on UN estimates and projections. The blue line represents the population under 25 years, showing steady growth until around 2050 when it starts to slightly decline. The red line represents those under 15 years, peaking around 2020, and then gradually declining after that point. The green line shows children under 5 years, which has largely plateaued since the 1990s and is projected to decrease over time. The chart indicates that the global number of children has reached its peak, and a long-term decline in younger populations is expected.

The world has passed “peak child”

Very thoughtful commentary!
The idea of polygenic genome editing of human embryos reveals the vast distance between apparently rational and actually unwise.