Positions

Assistant Professor
Baylor College of Medicine

Board Certifications

General Pediatrics
American Board of Pediatrics
Clinical Genetics
American Board of Medical Genetics and Genomics
Biochemical Genetics
American Board of Medical Genetics and Genomics

Education

M.D, Ph.D. from Case Western Reserve University
Residency at Case Medical Center University Hospital
Pediatrics
Residency at Baylor College of Medicine
Medical Genetics
Fellowship at Baylor College of Medicine
Biochemical Genetics

As a pediatrician and clinical geneticist, my primary clinical interest is in the diagnosis and management of a wide range of genetic disorders. I have a particular interest in the diagnosis and management of inborn errors of metabolism and skeletal dysplasias.

In the laboratory, we use inborn errors of metabolism as models for studying basic biological processes that impact more common disorders. I have a special interest in investigating the etiology of long-term complications of various inborn errors of metabolism, especially urea cycle disorders. In particular, we are using laboratory-based approaches in mouse models and cell studies together with clinical investigations to gain a greater understanding of liver disease in individuals with urea cycle disorders.

In addition, I am involved in a variety of gene discovery projects focusing on rare metabolic and skeletal disorders as part of the Undiagnosed Diseases Network.

Selected Publications