NIGMS Repository at the RARE Drug Development Symposium


Earlier this month, Global Genes and the University of Pennsylvania Orphan Disease Center partnered to host the 2020 RARE Drug Development Symposium (RDDS). Taking place virtually this year, the RDDS brought together patients, advocates, academic researchers, and industry sponsors to educate, collaborate, and inspire. This symposium sought to empower the rare disease community and advance research into rare disease treatments through keynote lectures, poster sessions, roundtable discussions, and research presentations.

The NIGMS Repository Principal Investigator, Deborah Requesens, Ph.D., was invited to lead a roundtable session entitled “Cell Models in Rare Disease Research”, in which participants discussed the utility of basic biological models for understanding the mechanisms of rare disease progression. “Clinically-relevant biologic models are powerful tools to study the effects of various treatment modalities, and they provide a vital resource to those who are developing therapeutic strategies”, said Dr. Requesens. “It was great to see so many individuals from such different backgrounds come together to learn and engage with one another, furthering their involvement with rare disease research”.

The NIGMS Repository was also represented at the symposium’s poster session by Project Manager Sam Sander-Effron who presented an overview of research publications from the past year that utilized samples from the Repository. “This is an opportunity to demonstrate the wide-ranging research applications that depend on cell lines and DNA from the Repository collections”, says Sander-Effron. “When individuals with rare diseases donate their specimens for research use, they might not ever know what came of it. This project provides a thorough review of the research that was pursued and allows donors to appreciate the scale of work being done with their invaluable contributions.”

Other News