Positions

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US

Education

BS from National University Of La Plata
MD from University Of La Plata School Of Medicine
Internship at Emory University Affiliate Hospitals
Pediatrics
Residency at Emory University Affiliate Hospitals
Pediatrics
Fellowship at Emory University Affiliate Hospitals
Medical Genetics

Certifications

General Pediatrics
American Board of Pediatrics
Clinical Genetics
American Board of Medical Genetics

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

Professional Statement

My primary research interest involves the study of the natural history and the molecular characterization of mitochondrial cytopathies. There is cumulative evidence based on isolated cased reports and limited neuroradiological, biochemical, and molecular studies that mitochondrial dysfunction may be linked to autism spectrum disorders (ASDs). It has been hypothesized that ASDs are prevalent in subjects with mitochondrial cytopathies.

One of the current projects is to characterize from a clinical, biochemical and molecular standpoint the autistic endophenotype in subjects with mitochondrial disease. A detailed clinical and molecular understanding of a potential mitochondrial dysfunction linked to this group of neurobehavioral disorders, if present, offers the possibility of evaluating more specific therapies and improved clinical outcomes for ASD phenotypes. In addition, I am interested in ascertaining the prevalence of mitochondrial DNA depletion in the setting of acute liver failure in infants. A search of candidate nuclear genes involved in the maintenance of mitochondrial DNA integrity and responsible for the phenotype of recessive mitochondrial encephalomyopathies is currently underway by using exome sequencing.

Moreover, I have been involved in two clinical research studies that are evaluating nitric oxide flux and production and glucose kinetics in subjects with MELAS syndrome. This syndrome is associated with metabolic stroke episodes. These episodes could reflect the effect of nitric oxide depletion in the small vasculature. By assessing nitric oxide production and the effect of arginine and citrulline supplementation in these subjects, potential therapeutic strategies could be offered to them. The glucose kinetics study would shed light on the different types of pathological mechanisms of diabetes in MELAS syndrome helping to identify potential biomarkers and therapies.

Selected Publications

Memberships

American Society of Human Genetics
Society of Inherited Metabolic Disorders
Society for the Study of Inherited Metabolic Disorders