Rare Disease Symposium

Wednesday, April 20, 2022
Innovations in Diagnostics and Therapeutics:
An Interdisciplinary Virtual Meeting
Did you know that today is Rare Disease Day? In honor of the over 300 million people worldwide with a rare disease, the UCSF Catalyst Program and Foundation IPSEN would like to cordially invite you to a Rare Disease Virtual Symposium on Wednesday, April 20, 2020, titled "Rare Disease Discovery: Innovations in Diagnostics and Therapeutics." View the schedule below and register to attend.

Wednesday, April 20, 2022

9:00 am - 9:15 am    
Welcome and Introductions

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

2:55 pm - 3:00 pm
Concluding Remarks
Jim Levine, MD, PhD, President, Foundation IPSEN
Charles Hart, PhD, Director, UCSF Catalyst Program

Wednesday, April 20, 2022
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