Fernando Scaglia, MD

Department or Service

Rating

Specialty

Genetics

Phone: 832-822-4292
Fax: 832-825-4294

Contact Information

6701 Fannin
MC CC 1560.00
Houston, TX 77030
United States
Texas

Professor, Department of Molecular and Human Genetics

Baylor College of Medicine

Education

School Education Degree Year
Emory University School of Medicine fellowship Medical Genetics 1998
Emory University School of Medicine residency Pediatrics 1995
Emory University School of Medicine internship Pediatrics 1993
Universidad Nacional De La Plata - Argentina medical school Doctor of Medicine 1989

About

Clinical Interests:

Mitochondrial cytopathies, other inborn errors of metabolism

Research Interests:

I have been involved in clinical research studies that are evaluating nitric oxide flux and production in children with MELAS syndrome. This mitochondrial syndrome is associated with metabolic stroke episodes and it is thought that 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 children, potential therapeutic strategies could be offered to them. Furthermore, I am also interested in conducting glucose kinetic studies to assess the glucose metabolism and to better understand the mechanisms of diabetes in patients with this syndrome.

Another project where I am involved is the identification of nuclear gene defects of pediatric mitochondrial disorders and in particular mitochondrial DNA depletion syndromes through exome sequencing. Other research interests focus on a natural history study of mitochondrial disorders in collaboration with other centers in United States of America and Canada.

Organization

Organization Name Role
American Society of Human Genetics Member
Society for the Study of Inherited Metabolic Disorders Member
Society of Inherited Metabolic Disorders Member
Society of Pediatric Research Member
United Mitochondrial Disease Foundation Elected Member, Scientific and Medical Advisory Board

Selected Publications

El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Molecular Genetics andMetabolism 2012 Jul 6. [Epub ahead of print].

Patient & Family Comments