Positions

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Chief Quality Officer, Vice President, Chief Medical Officer
Baylor Genetics
Director
Storage Disorders Clinic
Texas Children's Hospital
Houston, Texas, United States
Storage Disorders Clinic

Education

BA from Yale University
MD from Tulane University

Certifications

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

Professional Interests

  • Genetic testing for inherited diseases
  • Natural history, molecular genetics, and treatment of lysosomal storage disorders

Professional Statement

My research interests are directed towards translational medicine, specifically the application of molecular genetics to the diagnosis and treatment of genetic diseases. Recently, my efforts have been focused on laboratory and clinical aspects of genetic testing and clinical research in lysosomal storage diseases.

My main area of interest is the development, implementation, and evaluation of novel molecular approaches to the diagnosis of genetic disorders. As Senior Director of the Medical Genetics Laboratories and Medical Director of the Whole Genome Laboratory, our primary mission is to provide state-of-the-art genetic testing for common and rare conditions in a CAP and CLIA-certified clinical laboratory. To this end, we are very active in development of new disease tests and testing strategies, refinement of testing methods for improved sensitivity and specificity, and extension of these activities beyond the usual scope of a molecular diagnostic lab. In collaboration with the Human Genome Sequencing Center at Baylor, we have recently developed, validated, and implemented whole exome sequencing as a clinical diagnostic test for individuals with apparent genetic disorders that have been a challenge to diagnose. The whole exome sequencing test is a highly complex test that identifies changes in a patient's DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the whole exome sequencing test analyzes the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques. Identification of the underlying diagnosis can improve medical management and offer information to the family regarding prognosis. Another area of development in the area of personalized medicine is based on determining an individual's genomic profile. We recently developed and validated a highly multiplexed, beadchip assay that is designed to detect single nucleotide changes in disease genes and genetic loci that are causative or predictive of specific single gene disorders, increase the risk of developing certain common multifactorial conditions such as diabetes, or are associated the altered metabolism and response to certain drugs. In addition to the development of tests for clinical application, we also have an active interest in determining molecular mechanisms for novel mutations detected through routine testing as well as identifying potential novel disease genes.

My major clinical research interest is in lysosomal storage diseases, particularly Fabry disease, Gaucher disease, and Mucopolysaccharidosis type 2, with emphasis on both clinical and laboratory approaches to the elucidation of the natural history, molecular genetics, and evaluation of treatments in clinical trials. Previous accomplishments in my laboratory include the further characterization of the natural history of the classical and cardiac variant forms of the disease, study of genotype-phenotype correlations, and development of rapid mutation assays for prenatal diagnosis and identification of carrier females. Currently, my efforts have been directed toward the evaluation in clinical trials of novel treatment approaches for Fabry disease, Gaucher disease, and other lysosomal storage disorders in the form of recombinant enzyme replacement therapy and chaperone therapy.

Selected Publications