Positions

Associate Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Assistant Laboratory Director
Cytogenetics Laboratory
Baylor Genetics

Education

MD from Aga Khan University Medical College
Residency at Milton S Hershey Medical Center
Pediatrics
Clinical Fellowship at Baylor College Of Medicine
Medical Genetics
Clinical Fellowship at Baylor College Of Medicine
Clinical Cytogenetics

Certifications

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

Professional Interests

  • Copy number variations and diseases, congenital cardiovascular malformations, genetic causes of language/speech delay

Professional Statement

I am interested in the application of molecular cytogenetic diagnostic tools such as array-comparative genomic hybridization (CGH), also known as chromosomal microarray analysis (CMA) in understanding the genetic basis of birth defects. Our laboratory is specifically interested in using CMA as a tool to identify candidate regions involved in cardiac patterning. Clinically significant CVMs occur in 5-8 per 1000 live births, yet, the cause of these malformations is unknown in the majority of cases. Recurrent copy number variations are among the known causes of syndromic CVMs, accounting for an important fraction of cases. Our strategy has been to use array-CGH to identify genomic regions with copy number alterations that could be effectively investigated with candidate gene sequencing in a large cohort of individuals with specific CVM. Using this tool, we have identified genes underlying left ventricular outflow tract obstruction defects and Wolff-Parkinson-White syndrome (WPW). We have recruited over 150 families with Wolff-Parkinson-White syndrome and are interested in understanding the genetic basis of this pre-excitation syndrome that affects 1-3/1000 individuals.

We are also interested in studying low-frequency population-specific copy number variations linked to certain traits such as early language delay and autism spectrum disorders. We have identified a 4-kb deletion, removing exon 3 of TM4SF20, which co-segregates with cerebral white matter hyperintensities and early childhood language delay in multiple families, predominantly from Southeast Asia. This deletion which has an allele frequency of about 1% in the Vietnamese Kinh population, is embedded in a common ancestral haplotype. We are currently recruiting multiple families of Vietnamese, Thai, Burmese, Filipino, Indonesian, and Micronesian descent to understand the global impact of this low-frequency, highly penetrant allele on communication disorders and premature brain aging in this population.

Selected Publications

Memberships

Society of Pediatric Research
American Society of Human Genetics