Speaker Profile
MD, Professor of Pediatrics, UCSF
Biography
Jennifer Puck served on the faculties of U of Pennsylvania Medical School and the National Human Genome Research Institute before becoming a Professor of Pediatrics at UC San Francisco in 2006. While caring for patients with immune disorders, she has researched the genetic causes and mechanisms for rare human immune deficiencies. She developed the newborn screening test for severe combined immunodeficiency (SCID), now adopted throughout the USA and in many countries, enabling early diagnosis and optimal treatment. She has participated in multiple gene therapy trials for SCID and is currently CoPI of the successful first human Artemis SCID lentiviral gene addition trial at UCSF. While these advanced clinical studies offer health benefits to those with rare diseases, they also illuminate important basic immune pathways that were previously unknown.
Session Abstract – PMWC 2024 Silicon Valley
Track Co-Chairs:
Yael Weiss, Mahzi Tx
Peter Marks, FDA
- PMWC 2024 Award Ceremony
Pioneer Honoree: Katherine A. High, AskBio
Pioneer Honoree: Timothy Yu, Boston Children's Hospital
- Piloting Interventional Genomics for Orphan Diseases
Keynote: Timothy Yu, Boston Children's Hospital
- Accelerated Approval for Small Populations: Biomarkers & Endpoints (PANEL)
Chair: Peter Marks, FDA
- Jennifer Puck, UCSF
- Maria Grazia Roncarolo, Tr1X
- Katherine A. High, Rockefeller University
- Jennifer Panagoulias, FAST (Angelman Syndrome Foundation)
- Timothy Yu, Boston Children's Hospital - Novel Clinical Design Approaches in Rare Diseases (PANEL)
Chair: Adam Shaywitz, Bridge Bio
- Salvador Rico, Encoded Therapeutics
- Eric Crombez, Ultragenyx
- Elizabeth Berri Kravis, Rush University
- Empowering Patient Advocacy in Rare Disease Therapies (PANEL)
Chair: Yael Weiss, Mahzi Tx
- Justin West, KCNT1 Foundation
- Michael Graglia, Syngap Research Fund
- Wendy Erler, Alexion Pharmaceuticals - Advancing the Frontier: Gene Editing for Rare Diseases (PANEL)
Chair: Matthew Porteus, Stanford
- James Chung, Kyverna Therapeutics
- Lucas Harrington, Mammoth Biosciences
- Aron Stein, Intellia Therapeutics - Advancing the Frontier: Gene and Cell Therapies for Rare Diseases (PANEL)
Chair: Morten Sogaard, Astellas Gene Therapies
- Pooja Agarwal, BioMarin Pharmaceutical
- David Kirn, 4dmt
- Adrian Veres, Dyno Therapeutics
- Thomas Wechsler, J&J
- PMWC Showcase
- Dominic Borie, Kyverna Therapeutics
