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.
We're looking for a talented scientist 👩🔬👨🔬to join our group @StJudeResearch! Help us develop/characterize #stemcell/#organoid models of #raredisease#epilepsy disorders. 🧠🧬🧠🧬 Details below - join us!
https://t.co/hInAwOaaIs
Had a fantastic time at #ASHG2024! Learned so much, met amazing people, and can't wait to see where new connections and ideas take us. Here's to more great science ahead!
Great #RareDiseaseDay2024 event today @StJudeResearch! So many rare neurological diseases in need of better treatments. We hope to make a difference! 🧠🧬
Catastrophic neurological disorders in children are often caused by a single gene mutation. Most have no effective treatments, making it a huge unmet need. @hcmefford, MD, focuses on neurological diseases like epilepsy & works with PTNI to alter the landscape of these disorders.
Cheers to an amazing colleague & friend...@ebonkowski Your wealth of knowledge and unwavering support make each day brighter. Happy Genetic Counselor Day!!
Such an incredible experience at my first #ASHG conference, especially being part of the amazing @hcmefford Lab team ! Grateful for the shared knowledge, connections made, and the fantastic memories created together. Here's to more enriching experiences ahead! #ASHG2023 🧬🔬
What a great week (and party!) @GeneticsSociety#ASHG23! Proud of Mefford lab representation, already looking forward to #ASHG24 in Denver. Special shoutout to Mona Miller, outgoing CEO - thx for your incredible ASHG leadership. 🧬 🧬
Want to hear more about how #DNA#methylation can be used to diagnose #pediatric#epilepsies? Come out and hear me speak about it at the #ASHG2023 platform tomorrow morning at 10:45am in convention center/ballroom A/level 3! 🧠🧬
Thrilled to share our work in @hcmefford lab on genome-wide #DNAmethylation analysis in pediatric #epilepsy. In this preprint, we looked for regions of rare DNA methylation and screened for established episignatures to determine diagnostic utility (1/6):
https://t.co/iXeKInPgmO
Meet Dr. Soham Sengupta, a bioinformatics scientist who spent the past seven years conducting research in the lab of Dr. Rajeev Azad at @UNTsocial. #UNTproud Learn about his recently published papers and experience as a research scientist at UNT here: https://t.co/GbyCwelEx9
In our latest blog, Rajeev Azad takes us behind the scenes of his and @sohamsg90 pursuit of alien genes in bacteria, published in Microbial Genomics.🦠 Read it here 👉 https://t.co/SW1Jj1qyDE #MGen@BDI_UNT