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Incredible and important work by Katie-Rose Sullivan to develop a Disease Concept Model for STXBP1-related disorders ⁦stxbp1⁩ ⁦@SarahRuggieroGC⁩ Ingo Helbig⁩ ⁦Penn Genetics⁩

Incredibly excited to represent the Helbig lab at the NORD #RareDisease 2022 summit, coffee and notebook are ready to go! Stay tuned for a poster on forming a concept disease model for #STXBP1 -related disorders Ingo Helbig stxbp1

Busy day at NORD #RareDiseases summit for the poster givers! Happy I got the chance to catch up with Terry Jo Bichell from COMBINEDBrain who provided invaluable insight to get this project to where we are today Ingo Helbig stxbp1

Another highlight from #NORDsummit #RareDisease was reconnecting with Dr. Connie Lee from @AllianceToCure hearing her engaging talk regarding applying a ‘scalpel and not a hammer’ to mend relationships between patients, advocates, providers, and researchers in the name of DEI

What a privilege to have the team and opportunity to try and help my daughter and those like her live healthier, fuller lives. We will be a relentless force for good against #RareDisease. Ingo Helbig DAVIDSON LAB Children's Hospital Penn Medicine tinyurl.com/yf649bcc

What do we need to consider when selecting an outcome measures for STXBP1? “Basically everything” — thank goodness we have expert PT and OTs! Much love for interdisciplinary teams Ingo Helbig stxbp1