Position
Address
TX Childs Feigin Ctr (Work)Room: TXFC-235
Mail Stop: BCM225
Houston, Texas 77030
United States
Google Maps
Certifications
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General Pediatrics
American Board of Pediatrics -
Clinical Genetics
American Board of Medical Genetics
Education
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BS from National University Of La Plata
01/1982 - La Plata Argentina -
MD from University Of La Plata School Of Medicine
01/1989 - La Plata Argentina -
Internship at Emory University Affiliate Hospitals
01/1990 - Atlanta, GA United States -
Residency at Emory University Affiliate Hospitals
01/1992 - Atlanta, GA United States -
Fellowship at Emory University Affiliate Hospitals
01/1995 - Atlanta, GA United States
Language
- English
Gender
- Male
CME Presentations
Pediatric Mitochondrial Medicine Clinic Origins and Development
Clinical Genetics Conference
May 23, 2022
Professional Statement
My primary research interest is focused on the study of the natural history of mitochondrial disorders supported by NAMDC (North American Mitochondrial Disease Consortia), an NIH-funded registry that focuses on the longitudinal study of patients with mitochondrial disease. Furthermore, I am also involved in clinical trials in children and adults with mitochondrial disorders. One of my current areas of research includes the study of nitric oxide deficiency as the basis for stroke-like episodes in adults and children with a mitochondrial syndrome called MELAS. As a PI on several grants that have been funded by national organizations in the United States, I have laid groundwork for the study of nitric oxide deficiency in MELAS syndrome and its restoration with the use of arginine and citrulline supplementation. A current NIH grant funds a phase 1 study that aims to determine the maximum tolerated dose and safety profile of citrulline supplementation in adults with MELAS syndrome. Moreover, I am involved in an international clinical trial for pediatric patients evaluating the efficacy of vatiquinone in mitochondrial refractory epilepsy. Furthermore, I am interested in determining whether there is a specific metabolomics profile for the different mitochondrial disorders caused by mitochondrial and nuclear gene defects and whether this profile could be used to monitor treatment efficacy when novel therapeutic approaches are used.
Professional Interests
- Molecular bases of pediatric mitochondrial encephalomyopathies
- Stable isotope studies in MELAS syndrome to evaluate nitric oxide flux production and glucose kinetics
- EPI-746 clinical trial for Leigh syndrome
Memberships
- American Society of Human Genetics
- Society of Inherited Metabolic Disorders
- Society for the Study of Inherited Metabolic Disorders