Research Interests
My area of research interest is immunogenetics. To date, there are more than 350 different primary immunodeficiencies described in the scientific literature. In some cases, the molecular defect remains unknown. The focus of my research work is investigating the genetic cause of primary immunodeficiency diseases using next-generation sequencing technology in patients where the molecular defect (genetic cause) remains unknown.
Selected Grants
Developing a National Registry for Female Carriers of X-linked Chronic Granulomatous Disease: Improving Recognition, Diagnosis, and Treatment
ResearchCollaborator · Awarded by American College of Allergy, Asthma & Immunology · 2024 - 2026Primary Immune Deficiency Treatment Consortium
ResearchPrincipal Investigator · Awarded by University of California - San Francisco · 2014 - 2024Severe Combined Immunodeficiency (SCID) Screening and Education
ResearchPrincipal Investigator · Awarded by University of California - San Francisco · 2023 - 2023Single Arm, Open-Label, Multicenter, Registry Study of Revcovi® (elapegademase-lvlr) Treatment in ADA-SCID Patients Requiring Enzyme Replacement Therapy
Clinical TrialPrincipal Investigator · Awarded by Leadiant Biosciences, Inc. · 2021 - 2023CLN3: Modulation of Apoptosis and Ceramide Levels
ResearchResearch Associate · Awarded by National Institutes of Health · 2003 - 2008Fellowships, Gifts, and Supported Research
Whole genome sequencing for primary immunodeficiency ·
July 2013
- December 2013
Principle Investigator ·
2013 Clinical Immunology Society/ Grifols Senior Fellowship Award
· $30,000.00
External Relationships
- Chiesi USA
- Grifols
- Horizon Therapeutics (purchased Viela Bio) and acquired by Amgen
This faculty member (or a member of their immediate family) has reported outside activities with the companies, institutions, or organizations listed above. This information is available to institutional leadership and, when appropriate, management plans are in place to address potential conflicts of interest.