Where Silence Meets Science: Innovation in Rare Disease

Hosted by the UCSF Catalyst Program and Institute for Human Genetics, in partnership with Foundation Ipsen. Rare diseases affect more than 350 million people worldwide. With a focus on the interdisciplinary development of new diagnostics, new therapeutics, and social advances for patients and their families affected by a rare disease, we hope all participants come away from this symposium with an expanded understanding of the field and the inspiration to make an impact. 

Together with Invest in Cures San Francisco on February 12, this forum provides a full two-day exploration of scientific, clinical, and investment perspectives shaping the future of rare disease research and treatment.

Rare Disease Symposium Promo Image 2026

Welcome & Opening Remarks

Roopa Ramamoorthi, PhD, Director Catalyst Program and InVent Fund

James Levine, MD, PhD, President, Fondation Ipsen

Nate Prorok, MHA, Program Director, Digital and Computational Health, Catalyst

Program and UCSF NSF I-Corps

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Fireside Chat: Atul Butte’s Legacy in Rare Cancer and “Scalable Privilege”

Moderated by Aenor Sawyer, MD, Executive Director, Innovation and Entrepreneurship

Gini Deshpande, PhD, Venture Partner, Green Sands Equity

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Rare Disease Genetics Overview

Nadav Ahituv, PhD, Professor and Director, Institute for Human Genetics, UCSF

Rare diseases with hearing loss overview

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Morning Panel Drug Discovery in Rare Disease

Moderated by Charles Hart, PhD, Director Small Molecule Discovery Center, UCSF

Fyodor Urnov, PhD, Scientific Director, Innovative Genomics Instiute

Aaron Tward, MD, PhD, Chief Scientific Officer at Akuos, Associate Professor of Otolaryngology, UCSF

Russell Dahl, PhD, CSO, Jacaranda Biosciences

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Photography & Human Perspective in Rare Disease

Rick Guidotti, Founder and CEO, Positive Exposure

Film Screening, “Angelman Syndrome: Angels on Earth”

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Moving Mountains: Reyna's Story

The Summit Still Ahead for CDKL5 Gene Therapy

Jainu Jogani, Co-Founder, Child’s Cure Genetics Research

Jacinthe Gringras, PhD, Scientific Advisor, Child’s Cure Genetics Research

Nalin Gupta, MD, PhD, Chief of the Division of Pediatric Neurosurgery at UCSF

Roopa Ramamoorthi, PhD, Director Catalyst Program and InVent Fund

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Afternoon Panel: New Technologies & Diagnosis for Hearing Loss

Rebecca Lewis, PhD, AuD, Chief of Audiology, UCSF

Payal Anand, AuD, Director UCSF Audiology Clinic

Dylan Chan, MD, PhD, Professor of Otolaryngology, UCSF

Konstantina Stankovic, MD, PhD,Chair, Department of Otolaryngology-Head and Neck Surgery, Stanford

Nancy Young, MD, Professor of Pediatric Otolaryngology, Northwestern University

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Closing Patient Keynote

Rebecca Alexander, author, motivational speaker - lives with Usher syndrome, hearing & vision loss. Jacque Duncan, MD, Chair, Department of Ophthalmology, UCSF

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Closing Remarks

Nadav Ahituv, PhD, Professor and Director, Institute for Human Genetics, UCSF:

Nate Prorok, MHA, Program Director, Digital and Computational Health, Catalyst

Program and UCSF NSF I-Corps

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