Excited to share our #SingleCell #PSYCHENCODE24 study, reporting 470k cells in 27 cell types across 140 individuals from 2 #schizophrenia cohorts science.org/doi/10.1126/sc…

You know those times when you come out of a theater and just know that film would win Best Picture…this is the human genetics equivalent. I’m not prone to hyperbole but cannot remember the last time I was this impressed by a genetics manuscript. Congratulations!

Delighted to share the RGC Million Exomes paper from Regeneron Genetics Center colleagues in nature. Grateful to all the research participants, collaborators and Team RGC! Huge congrats to Kathie Sun and all the RGC colleagues. 1/3

STRchive (strchive.org), an online database of tandem repeat disease loci in humans.

Hiatt et al. medRxiv
medrxiv.org/content/10.110…

Last week DevermanLab reported a !!! breakthrough in delivery of gene therapy cargoes to the CNS - an engineered AAV capsid binding human TfR science.org/doi/10.1126/sc…

New post: how I now think about the potential of gene therapy in a brain-wide disease: cureffi.org/2024/05/22/ste…

The #ShawPrize in #LifeScienceandMedicine 2024 is awarded to Swee Lay Thein & Stuart Orkin for their discovery of the genetic and molecular mechanisms underlying the fetal-to-adult hemoglobin switch.
Congratulations to both laureates!
NIH
NIH NHLBI
Harvard Medical School

We had a great and fruitful collaboration with Regeneron Genetics Center back at RambamHCC that yielded many fascinating rare disease findings, some of which we are still working on!

Once again, I need to beg you to help this charity survive. Desperate doesn’t even cover the situation they’re in. Read the post below and please, don’t let this be the end of all the wonderful work they are doing. Donate ANYTHING you can at paypal.com/paypalme/lovin… and share

I was reading the recent nature paper on the impact of human genetics on drug success (nature.com/articles/s4158…). I found one of the findings particularly interesting.
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This is a follow-up work of Matt Nelson's famous 2015 paper published in natureGenet

Exciting to see Ionis's UBE3A ASO program for Angelman syndrome is making promising progress, with positive results in the initial phase trials.
ir.ionispharma.com/news-releases/…

There is a fascinating biology behind the therapeutic design here. I've written about it previously

As the CEO of 5 Prime Sciences, I'm excited to announce our strategic partnership with GSK to develop new methods to support genentics-enabled drug development.

It's an honour to work with one of the most sophisticated human genetics teams in pharma.

5primesciences.com/news/

New article by me:

The rise in reported maternal mortality rates in the US is largely due to a change in measurement.
ourworldindata.org/rise-us-matern…

The change was adopted by different states at different times, resulting in what appeared to be a gradual rise in maternal mortality.

Two GPT-4os interacting and singing

Exciting new GWAS of breast cancer in African women based on ~18k cases and ~22k controls.

Jia et al. Nat Gen
nature.com/articles/s4158…

In one of the risk loci, located in chromosome 4, the top variant is a low frequency missense variant (rs61751053) in ARHGEF38 (OR=1.48). It

Seriously, this is mind blowing! Feels like science fiction would be an understatement. If this is the power of AI today, imagine what will it become in 5 to 10 years from now.
youtube.com/live/DQacCB9tD…

Wow

Many of us (all of us?) came to science from a place of awe. The awe of understanding what is around us, and the awe of ideas and intuitions.. Nurturing a culture of creativity and risk-taking is an absolute must if we are to keep science as a home for the seekers of awe.