Positions

Associate Professor

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

Vice Chair of Clinical Research

Molecular and Human Genetics
Baylor College of Medicine

Associate Professor

Department of Medicine
Baylor College of Medicine

Director, Clinical Translational Core

Intellectual and Developmental Disabilities Research Center (IDDRC)
Baylor College of Medicine

Addresses

Adult Genetics Clinic (Clinic)

Baylor College of Medicine Medical Center - McNair Campus
7200 Cambridge St.
Houston, TX 77030
United States
Phone: (713) 798-7764
Adult Genetics Clinic

Education

MBBS from University of Mysore

01/1999 - Mysore, India

Medical School

Residency at Gandhi Medical College

01/2003 - Bhopal, India

Internal Medicine

Internship at Fairview Hospital, A Cleveland Clinic Hospital

06/2006 - Cleveland, Ohio United States

Residency at Baylor College Of Medicine

06/2008 - Houston, Texas United States

Clinical Genetics

Postdoctoral Training at Baylor College Of Medicine

06/2009 - Houston, Texas United States

Clinical Genetics

Residency at Baylor College Of Medicine

10/2009 - Houston, Texas United States

Internal Medicine

Certifications

American Board of Internal Medicine

American Board of Medical Genetics and Genomics

Honors & Awards

Adult Genetics Excellence in Education Award

2012, 2013, 2015, 2016

Department of Molecular and Human Genetics, Baylor College of Medicine

Consultant for Endocrinologic and Metabolic Drug Advisory Committee

Food and Drug Administration, USA (11/2013)

Rising Star Award

Baylor College of Medicine (05/2015)

Norton Rose Fulbright Faculty Excellence Award

Teaching and Evaluation

11/2016

Professional Statement

My research is focused on translational medicine, specifically, evaluating new and potential therapies for various genetic disorders. The main focus of my research program is clinical investigation including the conduct of natural history studies, proof-of-concept pilot studies, and interventional clinical trials in patients with inborn errors of metabolism and skeletal dysplasia.

Inborn Errors of Metabolism: As the co-principal investigator 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 have 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.

Skeletal dysplasia: As a lead investigator of the NIH RDCRN’s Brittle Bone Disorders Consortium, I am involved in the conduct of many studies in individuals with osteogenesis imperfecta, the most common Mendelian form of osteoporosis. One of the key trials involves evaluating the safety and efficacy of TGF-beta inhibition in individuals with severe forms of OI.

Clinical Interests: As an adult clinical geneticist, I provide care to adults with a wide variety of heritable conditions. As the director of the Clinic for Metabolic and Genetic Disorders of Bone, I evaluate and treat patients with osteogenesis imperfecta, heritable disorders of bone, early-onset osteoporosis and other common forms of metabolic bone diseases.

Websites

Selected Publications

• "Complete List of Publications on Pubmed." :
• Rabinovich S, Adler L, Yizhak K, Sarver A, Silberman A, Agron S, Stettner N, Sun Q, Brandis A, Helbling D, Korman S, Itzkovitz S, Dimmock D, Igor Ulitsky, Nagamani SC, Ruppin E and Erez A "Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.." Nature. 2015 November ; 527 (7578): 379-83. Pubmed PMID: 26560030
• Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B "Requirement of argininosuccinate lyase for systemic nitric oxide production." Nat Med. 2011 November 13; 17 (12): 1619-26. Pubmed PMID: 22081021
• Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B "Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria." Am J Hum Genet. 2012 May 4; 90 (5): 836-46. Pubmed PMID: 22541557

Memberships

Rolanette and Berdon Lawrence Bone Disease Program of Texas

Scientific Program Officer

American College of Medical Genetics

Elected Fellow

American Society for Bone and Mineral Research

Member

Funding

Co-Principal Investigator for the Urea Cycle Disorders Consortium - #U54HD061221

(08/01/2019 Grant funding from NCATS, NICHD, NIDDK for the RDCRN

Principal Investigator, Clinical Translational Core, IDDRC

(08/01/2019 Grant funding from NICHD

Clinical Translational Core Subaward

Industry-funded studies

Genzyme, Alexion, Amgen

NUCDF Fellowship Award

(07/01/2011 - 06/30/2012) National Urea Cycle Disorders Foundation

Languages

Hindi, Kannada