Soham Sengupta
@sohamsg90.bsky.social
Bioinformatics Research Scientist at @stjuderesearch.bsky.social in the @hcmefford.bsky.social lab 🧠
Reposted by Soham Sengupta
It’s time for #ASHG25 in Boston! Exited for a great week of 🧬 superb science, collaborative conversations, fun with friends, and some good seafood 🐟 !!
October 13, 2025 at 3:35 PM
It’s time for #ASHG25 in Boston! Exited for a great week of 🧬 superb science, collaborative conversations, fun with friends, and some good seafood 🐟 !!
Reposted by Soham Sengupta
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...
📄 www.medrxiv.org/content/10.1...
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...
www.medrxiv.org
September 5, 2025 at 3:32 PM
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...
📄 www.medrxiv.org/content/10.1...
Reposted by Soham Sengupta
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.
May 7, 2025 at 7:00 PM
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.
Reposted by Soham Sengupta
Postnatal SMA therapy w/genetic, small molecule therapies transforms the lives of patients. We present a case of *prenatal* tx of SMA with Dr. Finkel, colleagues @stjude.bsky.social @stjuderesearch.bsky.social @esbonkowski.bsky.social @sohamsg90.bsky.social +others www.nejm.org/doi/full/10....
February 20, 2025 at 9:50 PM
Postnatal SMA therapy w/genetic, small molecule therapies transforms the lives of patients. We present a case of *prenatal* tx of SMA with Dr. Finkel, colleagues @stjude.bsky.social @stjuderesearch.bsky.social @esbonkowski.bsky.social @sohamsg90.bsky.social +others www.nejm.org/doi/full/10....
Reposted by Soham Sengupta
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
February 19, 2025 at 10:17 PM
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