Rare Disease Discovery: Innovations in Diagnostics and Therapeutics

Rare Diseases affect more than 350 million people worldwide. The UCSF Catalyst Program, in partnership with Fondation Ipsen, welcomes you to our one-day virtual rare disease symposium. 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.

All the conferences will be broadcast on April 20th and will be available on demand from May 1st.

Register & Attend to the conference

Program:

Welcome and Introductions – 9am

9:15 am – 9:45 am

Opening Address: Rare Disease Therapeutics – Soup to Nuts

Tiina Urv, PhD (Director of the NIH Office of Rare Diseases Research)

9:45 am – 10:45 am

Case Study #1: Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

SPLIS: From Gene Discovery to Gene Therapy

Julie Saba, MD, PhD (UCSF Professor of Pediatrics, Hematology/Oncology)

Patient Story: Living with SPLIS

Ehtesham Khalid, MD

10:45 am – 11:15 am

State of the Art Diagnostics

Stephen Kingsmore, MD, DSc (President and CEO of Rady Children’s Hospital)

11:15 am – 11:45 pm

Negotiating the Challenges of Therapeutics Discovery for Rare Diseases

Emil D. Kakkis, MD, PhD (Founder, President, and CEO, Ultragenyx)

12:00 pm – 1:00 pm

Rare Voices: A Concert of Science (Featuring musicians and poets with a rare disease)

1:00 pm – 2:20 pm

Case Study #2: Sickle Cell Disease (SCD)

Rare Disease Treatment Seen Through the Lens of SCD

Brooklyn Haynes

Curative Therapies for SCD

Mark C. Walters, MD (Director of the Blood and Marrow Transplantation Program, UCSF Professor of Pediatrics)

Understanding and Addressing Health Disparities in SCD

Marsha J. Treadwell, PhD, UCSF (UCSF Professor of Pediatrics, Hematology)

2:20 pm – 2:55 pm

Defining a New Future for People with Rare Diseases

Amrit Ray, MD, MBA (Biopharmaceutical Executive and Advisor, Principled Impact LLC)

Concluding Remarks – 2:55 pm

Jim Levine, MD, PhD, President, Foundation IPSEN

Charles Hart, PhD, Director, UCSF Catalyst Program