Rare Disease Discovery: Innovations in Diagnostics and Therapeutics
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Découvrez tous nos projets dédiés à l’amélioration du diagnostic et à la dissémination des connaissances sur les maladies rares.
Register & Attend to the conference
Programme:
Introduction – 18h
18h15 – 18h45
Opening Address: Rare Disease Therapeutics – Soup to Nuts
Tiina Urv, PhD (Director of the NIH Office of Rare Diseases Research)
18h45 – 19h45
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
19h45 – 20h15
State of the Art Diagnostics
Stephen Kingsmore, MD, DSc (President and CEO of Rady Children’s Hospital)
20h15- 20h45
Negotiating the Challenges of Therapeutics Discovery for Rare Diseases
Emil D. Kakkis, MD, PhD (Founder, President, and CEO, Ultragenyx)
21h – 22h
Rare Voices: A Concert of Science (Featuring musicians and poets with a rare disease)
22h – 23h20
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)
23h20 – 23h55
Defining a New Future for People with Rare Diseases
Amrit Ray, MD, MBA (Biopharmaceutical Executive and Advisor, Principled Impact LLC)
Concluding Remarks – 23h55
Jim Levine, MD, PhD, President, Foundation IPSEN
Charles Hart, PhD, Director, UCSF Catalyst Program