Great GWAS paper diving deep into the contributions of germline variants to kidney cancer in 29k cases and >800k controls. I particularly love the discovery of a VHL 3' UTR variant, seen in ~10% of African and ~0.01% of European ancestries, that increase the risk of clear cell…

The first prime editing clinical trial has been cleared by U.S. FDA to begin: prime editing of HSCs to treat chronic granulomatous disease (CGD). Congratulations to Prime Medicine on achieving this key milestone only 4.5 years after we published the first prime editing paper.

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This is a fantastic article by Jeffrey Flier Jeffrey Flier, former dean of Harvard Medical School, on current threats to academic freedom in higher education from sources both internal and external to the academy, and some ways to counter them.

Veera Rajagopal  The cichlid populations are a fascinating natural experiment! Reminds me of another fish population, Chinook salmon, in which a single ~30-kb region predicts ~85% of the variance in spawning times.

Article: science.org/doi/10.1126/sc…

Love this Seth Godin's answer to Tim Ferris on what makes a great blog post
'the purpose is to tell people something, that they already sort of know, in a way that they would be grateful for the chance to forward to other people'
youtube.com/clip/UgkxTJTpt…

Labcorp is the winning bidder to acquire Invitae, which filed bankruptcy early this year. Sad to see this fate for a genetics diagnostic company.
prnewswire.com/news-releases/…

Great paper on the somatic CAG repeat expansions in blood and brain tissue of different ataxia subtypes. Not all ataxia subtypes show repeat expansions, suggesting the expansion is not repeat sequence-specific but gene-specific (ATXN7 in SCA7, HTT in Huntington's). Likewise, not…

First in-human trial of an mRNA therapy to treat an inborn error of metabolism (propionic acidemia). Not just one, but two gene products were delivered to hepatocytes (PCCA and PCCB encoding α and β subunits of the deficient protein). Amazing!
Koeberl et al. Nature…

Studies like this consistently find extremely high heritability of autism. Will this overwhelming evidence that it is a *genetic condition* receive any coverage? Of course not, because we're distracted by microbiome nonsense...

One subcutaneous injection of monoclonal antibody (L9LS) against malarial parasite protein provided 70% protection against malarial infection (77% against clinical malaria) over a period of six months. Amazing!
Kayentao et al. NEJM
nejm.org/doi/full/10.10…

'... on average, only half of the total [twin-based] heritability was covered by SNP-h2, and the other half, representing one-fifth of total protein phenotypic variability, remains missing.' Cool paper!

Love this plot showing the association of polygenic score of lung cancer with lung cancer. Once you condition on smoking, the effect size becomes similar across current, former and never-smokers.
Gormon et al. medRxiv
medrxiv.org/content/10.110…

Based on a register-based analysis of ~1 million individuals born in Sweden between 1985 and 1998, the family-based heritability of autism was 87% in males and 75.7% in females.

'These findings suggest that ... (heritability) differs between males and females, indicating that…