Positions

Associate Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Director, Clinic for Metabolic and Genetic Disorders of Bone
Baylor College of Medicine
Texas, United States
Director, Clinical Research Division
Molecular and Human Genetics
Baylor College of Medicine
Associate Professor
Department of Medicine
Baylor College of Medicine

Education

MBBS from University of Mysore
Medical School
Residency at Gandhi Medical College
Internal Medicine
Internship at Fairview Hospital, A Cleveland Clinic Hospital
Residency at Baylor College Of Medicine
Clinical Genetics
Post-Doctoral Fellowship at Baylor College Of Medicine
Human Genetics
Residency at Baylor College Of Medicine
Internal Medicine

Certifications

American Board of Internal Medicine
American Board of Medical Genetics and Genomics
International Society for Clinical Densitometry

Honors & Awards

Adult Genetics Excellence in Education Award
2012, 2013, 2015, 2016
Clinical Scientist Development Award
Consultant for Endocrinologic and Metabolic Drug Advisory Committee
Rising Star Award
Norton Rose Fulbright Faculty Excellence Award
Teaching and Evaluation

Professional Interests

  • Translational and clinical research focused on inborn errors of metabolism and skeletal dysplasia

Professional Statement

My research interests are focused on translational medicine, specifically, evaluating new and potential therapies for various genetic disorders. I am particularly interested in conducting natural history studies, proof-of-concept pilot studies, and interventional clinical trials in patients with inborn errors of metabolism and skeletal dysplasias.

As the Co-PI for the NIH Rare Disease Clinical Research Network’s Urea Cycle Disorders Consortium, I am actively involved in conducting natural history studies, data-mining projects, and exploratory studies aimed at improving therapies for UCDs. We recently discovered that some distinct features of UCDs could be a result of perturbations of non-ureagenic functions of urea cycle enzymes. In particular, we have shown that nitric oxide (NO) deficiency in the UCD argininosuccinate lyase deficiency (ASLD) contributes to the phenotype of the disorder. We are now translating these molecular findings into the clinical realm by performing clinical trials to evaluate the effects of NO supplementation on vascular and neurocognitive parameters in ASLD.

Another research area of interest is in regards to osteogenesis imperfecta (OI), a heritable form of brittle bone disease. We were the first group to show efficacy of anabolic bone therapy in milder forms of OI. BCM is the primary site for the Brittle Bone Disease Consortium, a newly funded RDCRN Consortium site. We are actively involved in conducting natural history studies in OI to answer clinically relevant questions. In addition, I am the Lead Investigator in a Phase I/II study evaluating the safety and efficacy of TGF inhibition in subjects with severe forms of OI.

Clinical Interests

As an adult clinical geneticist, I provide clinical care for adult patients with a wide variety of heritable conditions. I serve as the Director of the Clinic for Metabolic and Genetic disorders of bone that caters to adult subjects with OI, heritable disorders of bone, early-onset osteoporosis, and other common forms of metabolic bone diseases.

Selected Publications

Memberships

Rolanette and Berdon Lawrence Bone Disease Program of Texas
American College of Medical Genetics
American Society of Human Genetics
American Society for Bone and Mineral Research

Funding

Co-Principal Investigator for the Urea Cycle Disorders Consortium - #U54HD061221
Grant funding from NCATS and NICHD for the RDCRN
Clinical Scientist Development Award
Grant funding from Doris Duke Charitable Fund
Principal Investigator, Clinical Translational Core, IDDRC
Grant funding from NICHD
Clinical Translational Core Subaward
Industry-funded studies
Genzyme, Alexion, Amgen
NUCDF Fellowship Award
National Urea Cycle Disorders Foundation
Nitric Oxide And Bone Homeostasis In Patients With Argininosuccinate Lyase Deficiency
- #R01AR071741
Grant funding from NIAMS
Nitric Oxide Supplementation As A Therapeutic Intervention In Argininosuccinate Lyase Deficiency
- #U54HD061221
Grant funding from NCATS and NICHD for the RDCRN