@penngenetics.bsky.social
This is the official account for Penn Genetics – the Perelman School of Medicine at University of Pennsylvania. https://genetics.med.upenn.edu
New research out in @science.org from @hongbo919.bsky.social & @ksusztak.bsky.social (@PennKidney/ @penngenetics.bsky.social) provides a genetic map of kidney function & introduces a kidney multiome-based genetic scorecard for disease diagnostics & therapeutic development tinyurl.com/ubkutd4s
05.03.2025 19:32 — 👍 10 🔁 6 💬 0 📌 0
The annual Tom Kadesch Prize in Genetics was held on January 24th, featuring a special presentation by the recipient, Alexandra Indeglia, Ph.D.
Her talk was titled "An African-Specific Variant of TP53 Reveals PADI4 as a Regulator of Tumor Suppression."
Bravo to Alexandra on receiving this award!
Exciting talk today by Jennifer Phillips-Cremins @penngenetics.bsky.social on how chromatin and DNA loops change in response to neuronal stimulation and in disease states
03.02.2025 18:48 — 👍 3 🔁 1 💬 1 📌 0
ft. Jacquelyn Powers, Erica Trujillo, Heena Desai, Ryan Hausler, Susan Domchek, @KLNathanson, @KMaxwellLab (@penncancer.bsky.social), Heather Wachtel (@PennSurgery), Laura Conway (@penngenetics.bsky.social) & @B_Wubb (@pennmedicine.bsky.social) @BasserBRCA www.gimjournal.org/article/S109...
17.01.2025 18:48 — 👍 0 🔁 1 💬 0 📌 0
Khanh Trang in our @elife.bsky.social paper integrates 3D genomic maps for >50 diverse cell types with pediatric obesity GWAS. Findings implicate a role for pancreatic islet cell types. Our #V2G mapping nominates effector genes. @penngenetics.bsky.social
doi.org/10.7554/eLif...
G6PC2 controls glucagon secretion by defining the set point for glucose in pancreatic α cells ft. @13ah1_V, Eric Waite @CatherineLeeMay Elisabetta Manduchi, @bvoight28 @Michelle_YY_Lee Mark Tigue, Nicholas Manuto & @kkaestner.bsky.social (@penngenetics.bsky.social) www.science.org/doi/10.1126/...
09.01.2025 17:50 — 👍 0 🔁 1 💬 0 📌 0
Congratulations to our alum Dr. Ji Hun Kim who has started his own laboratory at KAIST and just won his first independent grant. Ji Hun is the co-inventor of LADL and will build out the technology to understand condensates in disease.
pubmed.ncbi.nlm.nih.gov/31235883/
New research out in @naturecomms.bsky.social finds that conserved autism-associated genes tune social feeding behavior in C. elegans ft. @MaraCowen, Dustin Haskell, Kristi Zoga & @michaelphart1.bsky.social (@penngenetics.bsky.social) @pennASPE www.nature.com/articles/s41...
17.12.2024 15:28 — 👍 7 🔁 1 💬 0 📌 0
ft. @taimeimiaole, @cranphilly, @mayankneuro, @YijingSu2022, You Lu, @UPenn_SongMing, Minghong Ma, Wenqin Luo (@PennMINS), Hanying Yan, @drmingyaoli.bsky.social (@dbei-upenn.bsky.social), Stephen Prouty, John Seykora (Derm) & @hao_wu_7 (@penngenetics.bsky.social) www.nature.com/articles/s41...
11.12.2024 15:32 — 👍 2 🔁 2 💬 0 📌 0
FMRP, MFF translation & mitochondrial fission in neurons ft. Adam Fenton, Ruchao Peng, @Charlie_R_Bond, @SHugelier, @melikel.bsky.social, @yiweichang.bsky.social, @erikaholzbaur.bsky.social & Thomas Jongens @BB_UPenn @penngenetics.bsky.social @cambupenn.bsky.social www.nature.com/articles/s41...
11.12.2024 15:36 — 👍 8 🔁 5 💬 0 📌 1
Sharing our recent manuscript on this new and better platform 🦋 - Brandon Bastien PhD used sophisticated tools to dissect neuron type specific roles for the synaptic adhesion gene CNTNAP in regulating behavior in C. elegans! 🧪 🧠 🪱
rdcu.be/d2zF2
Multiple allelic configurations govern long-range Shh enhancer-promoter communication in the embryonic forebrain
Congratulations to the Joyce and Epstein Labs (@ericjoyce.bsky.social, @epsteind.bsky.social) and their collaborators on their recent publication – doi.org/10.1016/j.mo...
#TET2 germline variants & kidney disease ft. @LiangXiujie, @Hongbo919Liu, Hailong Hu, Eunji Ha, Jianfu Zhou, @AminAbedini1990, @andrea_26sn, @KonstantinKltz & @ksusztak.bsky.social (@PennKidney/ @penngenetics.bsky.social) @naturecomms.bsky.social www.nature.com/articles/s41...
04.12.2024 14:53 — 👍 8 🔁 3 💬 0 📌 1
We're excited to announce the @pennmedicine.bsky.social Winter Coat Drive!🧥❄️ Drop off new or gently used coats for children & adults of all sizes at the Smilow & BRB Lobbies now through 12/22 for donation to Cradles to Crayons Philadelphia
03.12.2024 17:22 — 👍 3 🔁 3 💬 0 📌 0
Award recipients
Esteemed congratulations to Emily Feierman, PhD, (@korblab.bsky.social) and Katherine Alexander, PhD, (Shelly Berger lab) who were recently recognized as recipients of the 2024 Kaushal Family Awards in Genetics! Major kudos to all of our talented applications.
26.11.2024 19:41 — 👍 21 🔁 5 💬 0 📌 0Congratulations to Mara Cowen, PhD, and the Hart Lab on their recent publication!
26.11.2024 17:05 — 👍 6 🔁 1 💬 0 📌 0go.bsky.app/9asWtuD
21.11.2024 12:56 — 👍 28 🔁 4 💬 1 📌 1
