Fernando Scaglia
Professor, Department of Molecular and Human Genetics, Baylor College of Medicine · Baylor College of Medicine
Credentials: · · · ·
History
- Present
- 1993–1994
Medical Genetics
- 1992–1993
- 1989–1992
Emory University Affiliate Hospitals
- 1985–1989
Doctor of Medicine
Research
Nature Genetics · 2008 · 459 citations
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
Review · Molecular Genetics and Metabolism · 2015 · Last of 4 authors · Corresponding · 450 citations
Review · Genetics in Medicine · 2015 · 434 citations
- AE
24 papers · 4 as a resident
22 papers
- WC
21 papers
James Lupski
20 papers
19 papers · 1 as a fellow
16 papers
16 papers · 10 as a resident
16 papers
Grants
- 2009–2011
General Clinical Research Center
National Center for Research Resources · M01
Project lead · $126K · Baylor College of Medicine
Clinical trials
- 2021–2024
L-Citrulline Dose Finding Safety Study in MELAS
Principal investigator · Completed · Phase 1
Baylor College of Medicine
- 2009–2016
Nitric Oxide Production in MELAS Syndrome
Principal investigator · Completed · Early phase 1
Baylor College of Medicine
- 2019–2030
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Site PI · Recruiting
Icahn School of Medicine at Mount Sinai
- 2011–2026
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Site PI · Recruiting
Columbia University