Positions

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Vice Chair of Clinical Affairs
Molecular and Human Genetics
Baylor College of Medicine
Chief
Genetics Service
Texas Children's Hospital
Houston, Texas, United States
Director
Pediatrics Genetics Clinic
Texas Children's Hospital
Houston, Texas, United States
Medical Director, Cytogenetics
Baylor Genetics
Houston, Texas, United States

Education

MD from Fac. De Ciencias Med., U. De Buenos Aires
Residency at Beth Israel Medical Center
Clinical Fellowship at Cedars-Sinai Medical Center
Clinical Genetics and Cytogenetics

Certifications

Clinical Genetics
American Board of Medical Genetics
Clinical Cytogenetics
American Board of Medical Genetics
Clinical Molecular Genetics
American Board of Medical Genetics

Professional Interests

  • Clinical studies in patients with imprinting disorders (Angelman Syndrome), skeletal dysplasias, and genomic disorders

Professional Statement

I am primarily dedicated to clinical activities in the Department of Molecular and Human Genetics. In the area of clinical genetics, I am actively involved in the diagnosis and management of pediatric patients with birth defects and rare genetic disorders. I am also interested in the clinical aspect of bone disorders and participate at the Skeletal Dysplasia Clinic at TCH. I am directly involved in the supervision and training of medical students, residents, and fellows. As the Medical Director of the BMGL Cytogenetics Laboratory, I have a particular interest in structural chromosomes abnormalities and genomic disorders (contiguous gene deletion/duplication syndromes), as well as the mechanism of origin of these chromosome anomalies:

Epigenetics and Disorders of Imprinting: I have worked in Angelman syndrome clinical research for many years. We have followed a large group of Angelman syndrome patients at Texas Children's Hospital for developmental, clinical and EEG evaluations on a yearly basis. This study has allowed us to understand progression, complications and co-morbidities associated with this condition. We have also concluded two different clinical trials using betaine, creatine and folic acid/metafolin to promote methylation and revert silencing of the paternal allele. These trials attempted to ameliorate the symptoms of Angelman syndrome by altering patterns of imprinting. We also did look at the effects of levo-dopa in children with AS in a separate trial. We are currently setting up a multi-disciplinary clinic for patients with Angelman syndrome.

Skeletal dysplasias: Through the sponsorship of a private pharmaceutical company, I am involved in two studies, 1) looking at anthropometric measurements in a cohort of patients with achondroplasia, 2) enrolling patients with achondroplasia for a phase 2 clinical research trial using a recombinant cartilage natriuretic peptide (CNP) also known as vosoritide (BMN-111), a drug we anticipate will promote linear and more proportionate skeletal growth in these patients.

Undiagnosed Disease Network: Our group is currently recruiting and studying patients with rare disorders under the auspices of the UDN consortium. This effort has been possible by a grant awarded by the NIH under the leadership of Dr. Brendan Lee and will give us a unique ability to characterize rare disorders, make new discoveries, and gain insight on novel genes and disease mechanisms.

Selected Publications

Memberships

American Society of Human Genetics
American College of Medical Genetics
Society for Pediatric Research
Teratology Society