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📢Sanders + Rinaldi Labs Carlo Rinaldi Rinaldi lab are hiring a bioinformatician interested in 🧬regulation + treatment for rare disorders! The science is fantastic, the ppl are great, the Oxford_IDRM building is new + gorgeous + Oxford is 🤩. Check it out! tinyurl.com/idrmpost

1/ We’re excited to share our new preprint “Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions” available on medRxiv! medrxiv.org/content/10.110…

Particularly pleased about this latest preprint from the lab about the role of common variants in rare neurodevelopment conditions. See this thread from co-first authors Qinqin Huang and Emilie Wigdor. Lots of surprising (to me) findings in this one! tinyurl.com/ndcpolygenic

Exciting new work from Qinqin Huang Emilie Wigdor Hilary Martin and others (myself included): 'Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions'. 🧵 While it is understood that both rare mutations (often de-novo) and common variants

When we think of recessive conditions, rare monogenic disorders come to mind. Yet variants have recessive effects on common diseases too! We profiled the single-variant recessive landscape of a cohort of 44k British South Asians, now live on medRxiv: (1/11)

Our paper “Investigating the role of cis-eQTLs in modifying the penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders” (NDDs) is out in Scientific Reports! Three interesting findings led to this study: nature.com/articles/s4159…

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

… as well as how polygenic risk may play a role. (Much more in their paper than that of course!) See threads from Emilie Wigdor x.com/EmilieWigdor/s… And Qinqin Huang x.com/qinqin_huang/s…

Recent work from the group investigating the non-uniform genetic effects on cognitive ability throughout development:

Thrilled that Qinqin Huang and I were able to contribute to this work on genetics of menopause and its links to cancer and de novo mutation rate led by Anna Murray and John Perry, out today in Nature nature.com/articles/s4158….

I'm very excited to have our work on recessive developmental disorders published at Nature Genetics! See here for the tweetorial (x.com/kartikchundru/…). There were some exciting updates during the reviews which I'll highlight here... (1/n) sanger.ac.uk/news_item/most…

Great to see this paper out in Nature today! One aspect that I worked on was the curious result that the education polygenic score predicts neurodevelopmental conditions but this prediction disappears within family. It's possible that this is because the parents' genetics

Indeed! Many thanks to my best co-first Emilie Wigdor ☺️ it's been a privilege to work in this dream team!

This paper is essential reading with important implications for the clinical genetics community and with important messages for ADHD and -- possibly --- bipolar disorder & anorexia nervosa. My commentary piece accompanies the article and is available at rdcu.be/d0VlK