Research Interests
Disorders
Glycogen Storage diseases type I, III, IV
Fabry disease
Severe Infantile Liver Failure Syndrome Type 1 caused by mutations in Leucine-tRNA Synthetase
Glutaric aciduria type 1
Fatty acid oxidation defects and Barth syndrome
Areas of interest
Novel therapies for genetic disorders
Metabolomics and biomarkers
Glycogen Storage diseases type I, III, IV
Fabry disease
Severe Infantile Liver Failure Syndrome Type 1 caused by mutations in Leucine-tRNA Synthetase
Glutaric aciduria type 1
Fatty acid oxidation defects and Barth syndrome
Areas of interest
Novel therapies for genetic disorders
Metabolomics and biomarkers
Selected Grants
A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus Serotype 8-mediated Gene Transfer of Glucose-6-phosphatase in Patients With Glycogen Storage Disease Type Ia
Clinical TrialPrincipal Investigator · Awarded by Ultragenyx Pharmaceutical · 2021 - 2025An Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a Single Dose of mRNA-3745 in Participants with Glycogen Storage Disease Type 1a (GSD1a)
Clinical TrialPrincipal Investigator · Awarded by Moderna Therapeutics, Inc. · 2022 - 2024Defining the clinical characteristics for clinical trial endpoints of GSD VI and IX
ResearchInvestigator · Awarded by Kriya Therapeutics · 2022 - 2024Anaplerotic Therapy Using Triheptanoin for Patients with Glycogen Storage Disease type I
Clinical TrialPrincipal Investigator · Awarded by Ultragenyx Pharmaceutical · 2020 - 2022A Multicenter, dOuble-blind, ranDomized, placebo-controlled, parallel-group study to determine the effIcacy and safety of lucerastat oral monotherapy in adult subjects with FabrY disease.
Clinical TrialPrincipal Investigator · Awarded by Idorsia Pharmaceuticals Ltd · 2020 - 2021Fellowships, Gifts, and Supported Research
Pfizer educational grant on Lysosomal storage disorders ·
December 7, 2020
- December 11, 2020
Educator- lecturer ·
Awarded by: Pfizer
I participate as a lecturer and discuss the journal club in the annual series
The grant is an international educational grant submitted to the Medical Genetics division
Shire educational grant for Lysosomal storage disease ·
2020
Educator- lecturer ·
Awarded by: Shire
This is an educational grant funded by Shire supporting the Medical genetics educational mission. Grant PI is Dr. Priya Kishnani and Dr. Marie McDonald.