Selected Grants
Developing strategies to identify candidate individuals for early genetic therapies
ResearchCollaborator · Awarded by National Institutes of Health · 2024 - 2029Functional characterization and reclassification of Pompe disease variants of uncertain significance (VUS) in carefully phenotyped patients: an approach towards high-throughput screening
ResearchCo-Chair · Awarded by Amicus Therapeutics Corporation · 2023 - 2025COG Senior Cytogenetics Reviewer
ResearchPrincipal Investigator · Awarded by Public Health Institute · 2024 - 2025RTI-TO2-Newborn Screening Pilot Study for Adrenoleukodystrophy (ALD)
Public ServiceCo Investigator · Awarded by Research Triangle Institute International · 2016 - 2018External Relationships
- Alexion Pharmaceuticals, Inc. a subsidiary of AstraZeneca
- Amicus Therapeutics
- Children's Oncology Group
- ClinGen
- Muscular Dystrophy Association
- Research Triangle Institute (aka RTI International)
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.