Research Interests
Biomarkers for inborn errors of metabolism that support the diagnosis and treatment monitoring of patients with rare genetic disorders.
Development of clinical assays for the analysis of biomarkers of metabolic disorders.
Development of clinical assays for the analysis of biomarkers of metabolic disorders.
Selected Grants
Combination Gene Therapy for Treatment of Canine Mucopolysaccharidosis Type I
ResearchPrincipal Investigator · Awarded by Childrens Hospital of Orange County · 2023 - 2026Biomarker studies in plasma from patients with Gaucher disease
ResearchCo Investigator · Awarded by Shire Human Genetics Therapies · 2018 - 2025Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of Treatment for Krabbe Disease, Pompe Disease, and Mucopolysaccharidosis Type 1
ResearchPrincipal Investigator · Awarded by State University of New York - Buffalo · 2025 - 2025Liver-directed AAV gene therapy for PHKG2-Glycogen Storage Disease IX (GSD IX y2)
FellowshipMentor · Awarded by National Institutes of Health · 2021 - 2024Evaluation of urinary Hex4 in Pompe and wild-type mice
ResearchPrincipal Investigator · Awarded by Aro Biotherapeutics · 2022 - 2023Urinary Glc4 as a Marker of Glycogen Synthesis
ResearchPrincipal Investigator · Awarded by Maze Therapeutics · 2021 - 2022Identifying Pathogenic Non-Coding Mutations in Rare Mendelian Disease
ResearchCo Investigator · Awarded by National Institutes of Health · 2019 - 2022Measurement of acylcarnitine, carnitine, and acetyl-L-carnitine levels in coded samples
ResearchPrincipal Investigator · Awarded by Rockefeller University · 2017 - 2021Investigating Autophagy in GSD-Ia
ResearchInvestigator · Awarded by National Institutes of Health · 2020 - 2021Pharmacodynamic study using rhaGLU in a Pompe mouse model. Nonclinical GAA-KO mouse study design proposal rhaGLU
ResearchCo-Principal Investigator · Awarded by Pharming Group N.V. · 2019 - 2021GSD III Clinical Data Manuscript Preparation
ResearchInvestigator · Awarded by Ultragenyx Pharmaceutical · 2019 - 2021Measurement of acylcarnitine, carnitine, and acetyl-L-carnitine levels in coded samples from subjects with depressive episodes
ResearchPrincipal Investigator · Awarded by Rockefeller University · 2015 - 2020A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease
Clinical TrialCo Investigator · Awarded by National Institutes of Health · 2017 - 2020Potency Assays
ResearchInvestigator · Awarded by Actus Therapeutics · 2018 - 2019Intraarticular Gene Therapy for Canine Mucopolysaccharidosis Type I Joint Disease
ResearchPrincipal Investigator · Awarded by Childrens Hospital of Orange County · 2017 - 2019Gender and APOE genotype interact to alter immune regulated metabolism in AD
ResearchCo Investigator · Awarded by National Institutes of Health · 2017 - 2019Activity and Biodistribution of the AAV2/8-LSPhGAA in GAA-knockout mice
ResearchCo Investigator · Awarded by Actus Therapeutics · 2018 - 2018Gastrin-Releasing Peptide and Bronchopulmonary Dysplasia
ResearchCo Investigator · Awarded by National Institutes of Health · 2011 - 2018Analysis of a urinary glucose tetrasaccharide in a mouse model of Pompe disease
ResearchPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2017 - 2018Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease
Clinical TrialCo Investigator · Awarded by Roivant Sciences, Inc. · 2015 - 2016Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease
Clinical TrialCo Investigator · Awarded by Food and Drug Administration · 2013 - 2016Clinical Trial Planning in Pompe Disease
ResearchCo Investigator · Awarded by National Institutes of Health · 2013 - 2014Urinary F2-isoprostanes as a new biomarker for the risk of type 2 diabetes
ResearchCo Investigator · Awarded by National Institutes of Health · 2009 - 2013Mechanisms for immune tolerance in Pompe Disease
ResearchCo Investigator · Awarded by National Institutes of Health · 2009 - 2011External Relationships
- Association for Creatine Deficiencies
- College of American Pathologists
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.