Penn Genetics
@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
https://genetics.med.upenn.edu
Reposted by Penn Genetics
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
March 5, 2025 at 7:32 PM
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
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!
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!
February 4, 2025 at 4:10 PM
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!
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!
Reposted by Penn Genetics
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
February 3, 2025 at 6:48 PM
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
Reposted by Penn Genetics
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...
January 17, 2025 at 6:48 PM
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...
Reposted by Penn Genetics
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...
doi.org/10.7554/eLif...
January 16, 2025 at 12:38 PM
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...
doi.org/10.7554/eLif...
Reposted by Penn Genetics
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/...
January 9, 2025 at 5:50 PM
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/...
Reposted by Penn Genetics
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/
pubmed.ncbi.nlm.nih.gov/31235883/
December 14, 2024 at 5:42 PM
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/
pubmed.ncbi.nlm.nih.gov/31235883/
Reposted by Penn Genetics
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...
December 17, 2024 at 3:29 PM
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...
Reposted by Penn Genetics
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...
December 11, 2024 at 3:32 PM
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...
Reposted by Penn Genetics
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...
December 11, 2024 at 3:36 PM
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...
Reposted by Penn Genetics
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
rdcu.be/d2zF2
nlr-1/CNTNAP regulates dopamine circuit structure and foraging behaviors in C. elegans
Communications Biology - Removal of nlr-1/CNTNAP from monoamine neurons in C. elegans reveals neuron-specific roles in foraging behaviors, including a critical role for nlr-1 in dopamine neuron...
rdcu.be
December 5, 2024 at 10:57 PM
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
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...
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...
December 10, 2024 at 4:32 PM
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...
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...
Reposted by Penn Genetics
#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...
December 4, 2024 at 2:53 PM
#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...
Reposted by Penn Genetics
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
December 3, 2024 at 5:22 PM
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
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.
November 26, 2024 at 7:41 PM
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.
Congratulations to Mara Cowen, PhD, and the Hart Lab on their recent publication!
New paper ALERT!! Mara Cowen, PhD discovered and defined how conserved autism-associated genes modify a 'social' behavior in C. elegans!! So proud of her work in the lab!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Conserved autism-associated genes tune social feeding behavior in C. elegans - Nature Communications
C. elegans aggregate in large clumps during feeding. Here, the authors find conserved autism-associated genes mediate distinct molecular and circuit signaling components that tune C. elegans feed...
www.nature.com
November 26, 2024 at 5:05 PM
Congratulations to Mara Cowen, PhD, and the Hart Lab on their recent publication!
Reposted by Penn Genetics
November 21, 2024 at 12:56 PM