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Congrats to Children's Hospital's Dr. Jillian McKee, who received an American Epilepsy Society grant to delineate the longitudinal history of #SYNGAP1 & facilitate precision therapies. Dr. McKee's work no doubt has immeasurable impact for families impacted by the rare genetic disorder CHOP Department of Biomedical & Health Informatics

Keto-Genetics | Beyond the Ion Channel More to come in the future! I was happy to write about my two favorite things in one post. #ketogenicdiet #ketogenetic #ketoforepilepsy ⁦stxbp1⁩ epilepsygenetics.net/2023/06/30/ket…

#SCN2A Family & Professional Conference Presenter Spotlight: Stacey Cohen, MS, LCGS will discuss "Unraveling the Genetic Code: Understanding Your SCN2A Variant" Virtual registration is still open: scn2a.org/conference-202…

Thanks to American Epilepsy Society , SynGAP Research Fund (SRF) and PERF for the support! Let’s do this 💪 Ingo Helbig Julie Xian @SarahRuggieroGC Katie Rose Sullivan Sarah Tefft

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

Early morning view from the Vancouver Convention Center while waiting to kick off the CNCDP-K12 retreat & #CNSAM! Child Neurology Society

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: Jillian McKee, MD, PhD Children's Hospital Topic: A prospective natural history study in SYNGAP1 – first insights from ENDD Caregiver meeting the next day on Friday, Dec. 1

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

Join SRF Nov. 30th in Orlando for a day-long science meeting. Register @ Syngap.Fund/Orlando Speaker: Riley Kessler, MD Children's Hospital Topic: Outlining the clinical landscape of SYNGAP1 through a computational phenotype approach using 5586 phenotypic annotations in 197

We’re pleased to recognize Amanda Back, MS, LCGC with this year’s NSGC New Leader Award! We’re excited to see her rise in genetic counseling and her leadership in our profession. #NSGC23 #GeneChat (1/2)

Join SRF Nov. 30th in Orlando for a day-long science meeting. Register @ Syngap.Fund/Orlando Moderator: Ingo Helbig, MD, Children's Hospital Topic: CTR (Clinical Trial Readiness) Caregiver meeting the next day on Friday, Dec. 1 #SyngapConf #SYNGAP1

Research poster speed rounds at #SEARCH2023 telehealth conference - Children's Hospital’s own Dr. Shikha Sinha (foreground) talks about our #DigitalHealth navigator program to promote health equity

Dr. John Chuo Children's Hospital previews his poster on changing perceptions of use of telehealth at #SEARCH2023. Go John!

Out now in Brain! "Delineating clinical and developmental outcomes in STXBP1-related disorders" academic.oup.com/brain/advance-… Ingo Helbig @KimThalwitzer Jillian McKee Katie Rose Sullivan Ben Prosser @SarahRuggieroGC stxbp1 CHOP Department of Biomedical & Health Informatics

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 🌻

Help me reach my fundraising goal to support SynGAP Research Fund (SRF) through the UPenn Million Dollar Bike Ride by ODC! charity.pledgeit.org/f/j03B1ltdfP

Had a great time at my first AAN annual meeting! Highlights include receiving the Susan Spencer Award for my work on SYNGAP1, watching Julie Xian present exciting data on our ENGIN cohort, and selfie lattes! #AANAM American Academy of Neurology CHOP Department of Biomedical & Health Informatics University of Pennsylvania Neurology CHOP Research

$$$ for #RareDisease research! RFAs for 35 different rare disorders through the The Orphan Disease Center @ UPenn, including 2 x $70K grants available to stxbp1 courtesy of Lulu's Crew :) Info and app link here: bit.ly/MDBR2024RFA