Penn Genetics @penngenetics.bsky.social and CHOP Genetics @chopresearch.bsky.social are at #ASHG25 Booth #1319 - come on by!

Re-posting given recent adds go.bsky.app/9asWtuD

I'll again be at the #ASHG25 Penn Genetics @penngenetics.bsky.social Booth #1319 1.30-2.30pm today - come on by!

Come see Matt Pahl (@pahlmc.bsky.social) present at the #ASHG25 Session on Predicted Effector Genes. Here are the details for the session: Learn about the current predicted effector gene landscape 11:45AM-1:15PM ET Room 259A

I'll again be at the #ASHG25 Penn Genetics @penngenetics.bsky.social Booth #1319 3.30-4.30pm today - come on by!

Come see Winter Bruner, PhD today: "A comprehensive MPRA of both trans-ancestral genome-wide and suggestively-associated childhood obesity loci implicates a role for CBLN4 in microglia". Room 205ABC Thurs 11.00-11.15 Key contribution from Molly Ridler

I'll be at the #ASHG25 Penn Genetics @penngenetics.bsky.social Booth #1319 3.30-4.30pm today - come on by!

Check out #ASHG25 Penn Genetics @penngenetics.bsky.social Booth #1319 Exhibit Level Halls A-B, Nonprofit and Advocacy Pavilion Tuesday, October 15 - Thursday, October 17

Great collaboration with the Joan O'Brien team - come see Vrathasha Vrathasha today: "3D genomic approaches mapping accessible chromatin and architecture implicate causal risk variants in primary open-angle glaucoma pathogenesis". Key contribution from @pahlmc.bsky.social. 10.45-11.00am Room 206AB

Come say hi at the #ASHG25 poster session today! I’ll be discussing my work on identifying pathogenic non coding variants in undiagnosed children. Poster 4083W. See you there! #ASHG2025 #Genetics #CHOP

Can’t believe #ASHG25 is finally here! Excited to share what I’ve been working on as lead analyst for the Global Lipids Genetics Consortium 🧬👩‍💻 Join me at the Plenary Session on Friday, Oct 17 (5–6:30 PM) — I’ll be presenting some unpublished results from our genome-wide interaction study 👀

Our team is excited to meet folks at #ASHG25 #kidneyomics

I'll be at #ASHG25 this week! Check out my poster Wed 2:30-4:30, at 5071W. "Bridging the GWAS-eQTL colocalization gap with insights from caQTL analyses" with @struangrant.bsky.social and Laura Almasy

Our #ASHG25 poster activities each day: 1097W Khanh Trang: Bone* 5071W Max Dudek: caQTLs 8042W Amber Zimmerman: Sleep 4083W Anthony Gacita: Pathogenic noncoding variants 9252T Mary Ann Weidekamp: Neuro & metab LDSC 5047T Ekta Singh: Ciliopathies 9206F Matthew Pahl: Glaucoma V2G* *Reviewers’ Choice

Finalizing my slides for #ASHG25 while on my flight to Boston in true PI fashion. Come check out the finished product tomorrow morning at 10:45am in the excitingly named "Seq-ing Function with Single Cells and CRISPR Perturbations" session! 🙂

Check out #ASHG25 Penn Genetics @penngenetics.bsky.social Booth #1319 Exhibit Level Halls A-B, Nonprofit and Advocacy Pavilion Tuesday, October 15 - Thursday, October 17

Just out: Led by @j-a-mitchell.bsky.social and Babette Zemel "gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood" @asbmr.bsky.social. Funded by our #NICHD award R01 HD100406. @chopresearch.bsky.social @penngenetics.bsky.social academic.oup.com/jbmr/article...

#ScienceJobs #PostdocOpening 🧬🧪

Open to connecting with potential candidates at #ASHG25 !

Our #ASHG25 platform activities: Vrathasha Vrathasha: 3D genomics & glaucoma. 206AB, W 10.45-11 Winter Bruner: MPRA & childhood obesity. 205ABC, T 11-11.15 Matt Pahl: Ancillary Session, Predicted Effector Genes. 259A, F 1.45-1.15 Struan Grant chairs Metabolic Matrix session. 253ABC, S 10-11

A fun day hanging with Tom Romer @chopshopstore.bsky.social, designer extraordinaire!

Congratulations to my labmates @junzhong.bsky.social and Aidan for their new publication on non-coding somatic mutations in PDAC! I’m honored to have been a part of the work & @amundadottir.bsky.social team.

So excited that our manuscript is now online! Led by the super talented @junzhong.bsky.social & Aidan O'Brien in my lab with lots of help from Minal Patel @kconnelly92.bsky.social Jason Hoskins @efsunarda.bsky.social @struangrant.bsky.social and others. Very grateful to our team and collaborators!!

Always one of the best moments in research and very pound to be in the @amundadottir.bsky.social team!

Congratulations to the @amundadottir.bsky.social team for their #Gut paper reporting a large-scale multiomic analysis of pancreatic ductal adenocarcinoma. Delighted to contribute along with @adwellspenn.bsky.social. @chopresearch.bsky.social @penngenetics.bsky.social gut.bmj.com/content/earl...

Our latest paper, just out in #GenomeBiology: "GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density". @chopresearch.bsky.social @penngenetics.bsky.social genomebiology.biomedcentral.com/articles/10....

My lab is seeking to co-hire a postdoctoral fellow with the @shaonsengupta.bsky.social team. See details below! I'll be #ASHG2025, so open to discuss further there if interest. careers.chop.edu/us/en/job/10...

To say that "the data show these vaccines fail" in regards to the mRNA plaform is unforgivable. For those of you that don't remember - this is the data from a SINGLE dose. In December 2020. So good I cried in grateful tears.

My lab is seeking to co-hire a postdoctoral fellow with the @shaonsengupta.bsky.social team. See details below! careers.chop.edu/us/en/job/10...

Delighted to contribute, along locally with @alessandrachesi.bsky.social and @jonathanbradfield.bsky.social‬: "Polygenic prediction of body mass index and obesity through the life course and across ancestries". www.nytimes.com/2025/07/21/h... www.nature.com/articles/s41...

Happy to announce our paper comparing embryonic gene expression between C. elegans and C. briggsae, work led by Christopher Large with Rupa Khanal and in collaboration with Junhyong Kim and Bob Waterston. www.science.org/doi/10.1126/...

Excited to to see our collaboration with @gburslem.bsky.social published today! This is part of our ongoing long term goal of achieving scalable non-disruptive and direct imaging and perturbation of the endogenous proteome

Great to see @maxdudek.bsky.social in the @upenngcb.bsky.social program interviewed by @ajhgnews.bsky.social www.ashg.org/ajhg/inside-...

Eli Lilly to acquire gene-editing therapy developer Verve Therapeutics for up to $1.3 billion, companies say reut.rs/4jWP3LH

Atul Butte died yesterday. The world lost a giant. A big bear of a man. With a huge smile. With love for everyone. With energy that could power a room. I loved everything about Atul. I loved how he was always happy. I loved how excited he was about science and helping people.

Wow!! Big thanks for the very lovely preview!! 🫶🫶🫶 TOO MANY analyses -> very DIFFERENT feedback on (several of) our submissions - some thought it was too lengthy, others considered the design creative, rigorous. Perhaps no need to do standard analyses if the data/question itself is not standard...

@agacita.bsky.social & I preview: "Parental autoimmunity genetics & offspring T1D risk" www.cell.com/cell-genomic... for new #CellGenomics study: "Effects of parental autoimmune diseases on T1D in offspring can be partially explained by HLA & non-HLA polymorphisms" www.cell.com/cell-genomic...

Check out my @chopresearch.bsky.social colleague (& fellow Scot!), @j-a-mitchell.bsky.social's #SLEEP2025 talk this afternoon: "Actigraphy-Estimated Rest-Activity Rhythm Characteristics of Adolescents by Socio-Demographic Factors" - covering work by Misol Kwon. 2.30pm, Room 619 www.sleepmeeting.org

Looking forward to presenting at the Trainee Symposium this morning at #SLEEP2025 here in beautiful Seattle - together with Hanna Ollila and Brittany Bush. Come on by! "Genetic Insights into Sleep Disorders" session - 9.10am Room 212. www.sleepmeeting.org/schedule/hig...

Check out @maxdudek.bsky.social paper on fpQTLs! www.cell.com/ajhg/fulltex...

Delighted to contribute, along with locally @adwellspenn.bsky.social & @alessandrachesi.bsky.social‬. "Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets" @chopresearch.bsky.social @penngenetics.bsky.social authors.elsevier.com/c/1l8KggeXDz0y

Go Spurs! Great to see them win a trophy after all the years of drought. I’m sure the press room will be busier than when I was there as a tourist 🤣

No better way to celebrate 10 years(!!) since joining the Grant lab than to celebrate at my PhD graduation! @struangrant.bsky.social I am so grateful for all the years of mentorship, and I’m so excited to continue collaborating with you and the rest of our colleagues at Penn/CHOP for years to come!

In a landmark scientific feat published in NEJM, a CHOP & Penn Medicine team treated the first patient with personalized #genetherapy, designed uniquely for newborn KJ, who was diagnosed with a rare #ureacycledisorder at birth. Learn more: http://ms.spr.ly/63327Sw92F

Congratulations to @ahrensnicklas.bsky.social, @kiranmusunuru.bsky.social and their collaborators! www.nytimes.com/2025/05/15/h...

Philly's Amber Zimmerman wins the #BroadStreetRun for a second year in a row on the women's side, finishing in 54:01.81.

I'm excited to share that our functional characterization of the 1p36.33 pancreatic cancer risk locus, is now live in Nature Communications. @amundadottir.bsky.social www.nature.com/articles/s41...

Delighted to contribute: "Prevalence and predictors of low bone mineral density in pediatric inflammatory bowel disease". @chopresearch.bsky.social onlinelibrary.wiley.com/doi/full/10....

Congratulations to Dr. Mitch Conery for winning this year's @upenngcb.bsky.social Saul Winegrad Award for Outstanding Dissertation! @bvoight28.bsky.social and I are the proud co-mentors. @penngenetics.bsky.social @chopresearch.bsky.social

Delighted to have contributed to this editorial diabetesjournals.org/diabetes/art...