Learn more about our story, our mission, and the people helping move the OPHN1 community forward.
Our mission is to improve the lives of individuals and families affected by OPHN1 variants by advancing research toward treatments and a cure, growing awareness, and strengthening our community.
We bring families, clinicians, and researchers together to accelerate progress — supporting research, building shared resources, and making it easier for the OPHN1 community to participate and stay connected.
The OPHN1 Foundation was established by Erica Rosen, MD, and David Rosen, PhD, after their son, Elliott Arthur, was diagnosed with OPHN1 syndrome at 14 months old in 2016. At the time, there was no central place for families to learn about the condition, connect with one another, or understand the limited and scattered research landscape.
Drawing on their backgrounds in medicine and science, Erica and David reviewed the available case reports and scientific literature, then built the early infrastructure the community needed: a shared website, a place for families to find one another, and a pathway to support research.
OPHN1 gene discovered, laying the scientific foundation for understanding the condition.
Website launched and Facebook community created, giving families a place to find one another for the first time.
iPSC line established, enabling laboratory modeling of OPHN1 for future drug and therapy development.
OPHN1 patient registry launched to systematically collect natural history data from families worldwide.
Joined Combined Brain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), expanding research collaboration.
Our Board provides governance and strategic direction for the Foundation's work. The Board guides priorities across research, community programs, and partnerships, and ensures families' needs stay at the center of everything we do.
Jessica is the President of the OPHN1 Foundation and mother to a daughter with an OPHN1 pathogenic variant. She brings healthcare startup leadership experience across strategy, finance, and operations to strengthen partnerships and advance the needs and voices of individuals and families affected by OPHN1.
David is a co-founder of the OPHN1 Foundation and father to a son with OPHN1 Syndrome. He earned a degree in Molecular & Cell Biology from UC Berkeley and a PhD in Biomedical Sciences from UCSF. He has 20+ years of experience in biotech drug development and guides the Foundation's scientific strategy.
Erica is a co-founder of the OPHN1 Foundation and mother to a son with OPHN1 Syndrome. She is a Stanford graduate who earned her medical degree from UCSF. She is a practicing anesthesiologist and provides clinical guidance to support patient-focused priorities.
Behind every milestone is a team of dedicated volunteers who give their time, expertise, and heart to the OPHN1 Foundation. We are deeply grateful for their contributions.
Nate has served as a research assistant and has helped the Foundation immensely in understanding the science — and specifically the molecular mechanism — behind OPHN1. His contributions have strengthened our ability to communicate complex research to families and collaborators alike.
Kris is a Microsoft Executive and an OPHN1 Dad who has generously volunteered his expertise in technology and strategy. His work has helped bring the Foundation's digital presence to life, ensuring families around the world can find the information and community they need.
Andrea brings invaluable pharmacy insights to the Foundation, helping us understand medication considerations, drug development pathways, and therapeutic landscape questions relevant to OPHN1. Her expertise supports both our research priorities and the practical needs of families.
There are many ways to get involved — from participating in research to volunteering your skills.
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