Seema R. Lalani, MD

Clinical Interests:

CHARGE syndrome, clinical use of array-comparative genomic hybridization studies in birth defects including cardiovascular malformations

Research Interests:

I?m 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 ~85?90% 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 performed high-resolution genome-wide DNA copy number analyses in over 700 individuals with CVM and have identified novel loci that are involved in CVM.

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.