Jirair Bedoyan
Associate Professor of Pediatrics · Univ of Pittsburgh Sch of Med
Credentials: · · · · · · ·
History
- 2004–2006
Medical Genetics and Genomics
Research
Clinical and biochemical characterization of four patients with mutations in ECHS1
Case report · Orphanet Journal of Rare Diseases · 2015 · 76 citations
Review · Nature Reviews Nephrology · 2020 · Co-first of 20 authors · 75 citations
Mitochondrial diseases in North America: An analysis of the NAMDC Registry
Neurology Genetics · 2020 · 61 citations
8 papers
- DK
6 papers
6 papers
5 papers
5 papers
5 papers
4 papers
4 papers
Grants
- 2011–2026
The North American Mitochondrial Disease Consortium (NAMDC)
National Institute of Neurological Disorders and Stroke · U54
Project lead · $762.6K · Columbia University Health Sciences
- 1997
Molecular Mechanisms of s Pombe Meiotic Recombination
National Institute of General Medical Sciences · F32
Contact PI · $83K · Fred Hutchinson Cancer Research Center
Clinical trials
- 2024–2029
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
Principal investigator · Recruiting · Phase 1
Jirair Krikor Bedoyan
- 2015–2026
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Principal investigator · Recruiting
University of Pittsburgh