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…70 miles next year Ingo Helbig UPenn Million Dollar Bike Ride by ODC 2024? stxbp1 SynGAP Research Fund (SRF) National Organization for Rare Disorders (NORD)

...CHOP Cornerstone post on #EMRGenomics Ingo Helbig CHOP Department of Biomedical & Health Informatics National Organization for Rare Disorders (NORD) stxbp1 research.chop.edu/cornerstone-bl…

Dr. Ingo Helbig, a pediatric neurologist at Children's Hospital, received two NIH grants to study how electronic medical record data can be harnessed to track the underpinnings and natural histories of childhood epilepsies. Learn more: ms.spr.ly/6016gW9U6

Very grateful to American Epilepsy Society, SynGAP Research Fund (SRF), and #PERF for their support! We will delineate the longitudinal history of #SYNGAP1 to facilitate precision therapies! Ingo Helbig Julie Xian CHOP Research CHOP Department of Biomedical & Health Informatics University of Pennsylvania Neurology

Congrats Erin and Ben Ben Prosser and Ingo Helbig on a great talk on #STXBP1 for the Peter Berman Lecture this morning. ...and someone in the room may have mentioned 70 miles for the UPenn Million Dollar Bike Ride by ODC next year... CHOP Research University of Pennsylvania Neurology

Tweet 1/5: New research from us: The largest chromosomal disorder seizures study to date: ‘Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals’ Link to study: rdcu.be/dhk2T

Our team had a blast meeting and learning from families, playing with kiddos, and providing information on the multi site STXBP1 NHS! Thank you for having us! stxbp1 Science + Love = Cure 💜

GRIN2A – this is what you need to know in 2023 | Beyond the Ion Channel epilepsygenetics.net/2023/09/15/gri… CureGRIN

Had a great time catching up and sharing our work on #SYNGAP1 with friends and colleagues at #CNSAM! Child Neurology Society CHOP Research CHOP Department of Biomedical & Health Informatics Children's Hospital SynGAP Research Fund (SRF) Ingo Helbig Julie Xian

Join SRF Nov. 30th in Orlando for a day-long science meeting. Register @ Syngap.Fund/Orlando Speaker: Julie Xian Children's Hospital Topic: Understanding the natural history of SYNGAP1 through data integration Caregiver meeting the next day on Friday, Dec. 1 #SyngapConf

Exciting new research - longitudinal study of STXBP1 using medical record data. Congratulations Julie Xian Ingo Helbig Children's Hospital Ciitizen

Packed the house as advocates, clinicians, researchers, gov and industry brainstorm clustering across rare epilepsies.#aes2023 #rareepilepsies #epilepsies

Had a great time sharing our recent work on #SYNGAP1 data integration at #AES2023! Lots more work to do! SynGAP Research Fund (SRF) Ingo Helbig Julie Xian Mike Graglia 🌻

Another great year at #AES2023 presenting on #STXBP1 and #SYNGAP1 disorders Virtual clinical trials, data integration, natural history studies - lots to look forward to… American Epilepsy Society Rare Epilepsy Network Thanks Ingo Helbig and Team 🔼

Looking forward to presenting at #AAN2024 “Assessing the clinical and treatment landscape of genetic epilepsies through 3,370 individuals” American Academy of Neurology CHOP Research

Great time at #AAN2024 in Denver, CO this year - honored to receive the Medical Student Experience at the Annual Meeting Scholarship American Academy of Neurology Jillian McKee Mark Fitzgerald Ingo Helbig

Congratulations to our M1s for receiving their white coats on Friday!! 🥼🩺

Want to know more about what ENDD is doing for rare 🧠disorders like SynGAP Research Fund (SRF) and stxbp1? Updated website here! endd.med.upenn.edu Children's Hospital Penn Medicine DAVIDSON LAB Ingo Helbig @EAHellerPhD