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.

Rare Disease Discovery: Innovations in Diagnostics and Therapeutics

Les maladies rares touchent plus de 350 millions de personnes dans le monde. Le programme Catalyst de l’UCSF, en partenariat avec la Fondation Ipsen, vous invite à notre symposium virtuel d’une journée centré sur les maladies rares. En mettant l’accent sur le développement interdisciplinaire de nouveaux diagnostics, de nouvelles thérapies et les progrès sociaux pour les patients et leurs familles touchés par une maladie rare, nous espérons que tou.te.s les participant.e.s sortiront de ce symposium avec une compréhension élargie du domaine et l’inspiration pour faire un impact.

Toutes les conférences seront diffusées le 20 avril et seront disponibles à la demande à partir du 1er mai.

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

Rare Disease Discovery: Innovations in Diagnostics and Therapeutics

Programme:

Rare Diseases

Rare but not alone