Katie Rose Sullivan

[Katie Rose Sullivan @KRSullivanGC]

https://t.co/8ov9mHtqu9

[Katie Rose Sullivan @KRSullivanGC]

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

[Katie Rose Sullivan @KRSullivanGC]

… 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

[Katie Rose Sullivan @KRSullivanGC]

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

[Katie Rose Sullivan @KRSullivanGC]

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

[Katie Rose Sullivan @KRSullivanGC]

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

[Katie Rose Sullivan @KRSullivanGC]

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

[Ben Prosser @Prosser_Lab]

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 https://t.co/WkNHxn7XTc

[Katie Rose Sullivan @KRSullivanGC]

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

[Katie Rose Sullivan @KRSullivanGC]

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

[Katie Rose Sullivan @KRSullivanGC]

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

[Julie Xian @JulieXXian]

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