https://t.co/8ov9mHtqu9

… database studies utilizing natural language processing have the potential to uncover novel genetic contributes for disorders that have historically been considered etiologically complex and challenged by small patient populations

Danielle deCampo, MD, PhD presented her retrospective study of genetic contributes to FIRES and RSE at the Norse Family Conference, revealing a low genetic yield compared to the border landscape of epilepsy genetics. However … @IngoHelbig @ddecampo @JulieXXian

Families who are interested in participating in an STXBP1 natural history study at a site near them can connect with the STXBP1 Foundation for site contact details

Where: CHOP team announcing a prospective, multi-site natural history study for STXBP1 in the United States When: July 2023 @SarahRuggieroGC @JulieXXian @Prosser_Lab @IngoHelbig @curestxbp1

Why: STXBP1 clinical features cartographically diverge from other genetic epilepsies when ‘phenotypic neighborhoods’ are mapped; illustrating an STXBP1 ‘veduta’ of why careful and diverse selection of outcome measures are necessary to capture heterogeneity

https://t.co/SFnNYvw1ui

How: collecting and creating tools that can measure 10% differences in STXBP1 symptoms, until then, Julie’s ‘heroic efforts’ with ‘virtual clinical trials’ to identify optimal variables…link below…

What: natural history studies in STXBP1 aim to understand trajectories of disease by replacing static disease data points with legions of longitudinal data…

The what, how, why, where and when of STXBP1 natural history news from the 1st European STXBP1 Summit’s ‘Milano forum’ today…

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 @IngoHelbig @curestxbp1

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. @IngoHelbig @lab_davidson @ChildrensPhila @PennMedicine

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

Busy day at NORD #RareDiseases summit for the poster givers! Happy I got the chance to catch up with @TJBichell from @combined_brain who provided invaluable insight to get this project to where we are today @IngoHelbig @curestxbp1

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 @IngoHelbig @curestxbp1

Incredible and important work by Katie-Rose Sullivan to develop a Disease Concept Model for STXBP1-related disorders ⁦@curestxbp1⁩ ⁦@SarahRuggieroGC⁩ @IngoHelbig⁩ ⁦@PennGenetics⁩