iiinova — where your digital self keeps evolving

Reposted by Soham Sengupta

Heather Mefford, MD, PhD @hcmefford.bsky.social · 13/10/2025

It’s time for #ASHG25 in Boston! Exited for a great week of 🧬 superb science, collaborative conversations, fun with friends, and some good seafood 🐟 !!

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Reposted by Soham Sengupta

Christel Depienne @christeldepienne.bsky.social · 05/09/2025

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

medrxiv.org

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...

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Reposted by Soham Sengupta

St. Jude Children's Research Hospital @stjuderesearch.bsky.social · 07/05/2025

Scientists developed a patient-derived organoid model for UBA5-associated encephalopathy, revealing stunted GABAergic interneuron growth as a cause of seizures. Boosting activity of the hypomorphic UBA5 gene shows promise as a potential therapy.

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Reposted by Soham Sengupta

St. Jude Children's Research Hospital @stjuderesearch.bsky.social · 19/02/2025

Scientists have successfully led the first in utero treatment of spinal muscular atrophy (SMA) with risdiplam. This groundbreaking trial shows promise for prenatal intervention in SMA. Learn more: ow.ly/ywFE50V39Hs

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