Research

Research Interests

The focus of my research program is to investigate the genetic mechanisms involved in the causation of language disorders. The genetic pathways involved in language disorders are not well understood. Understanding these pathways will provide important new insights that will be necessary for improved diagnosis and treatment of these common disorders. The goals of my research program are to elucidate such genetic mechanisms through the study of well-characterized families with Specific Language Impairments (SLI). For this purpose, I have collaborated with Dr. Mabel Rice at the University of Kansas, a leading developer of measures to characterize the SLI phenotype, who has collected well over 300 SLI families. I established collaborations with geneticist and speech therapists to collect SLI families in Pakistan as well.

There are mainly three ongoing research projects in my laboratory. In the first project, we have done whole-exome sequencing on multiple members from SLI families. Whole exome sequencing was chosen because it can interrogate all the protein-coding genes in the genome at single-nucleotide resolution, and potentially lead directly to causative genetic variants. My lab is involved in the bioinformatics analyses on the sequencing data as well as in the association of rare variations using SLI probands and behaviorally measured controls.

The second project in my lab is to map SLI loci in SLI families. We performed whole-genome Single Nucleotide Polymorphism (SNP) genotyping in 30 extended SLI families. We identified promising genetic loci in SLI families that will be followed up through next-generation sequencing to investigate rare DNA variations causative of SLI in these families.

The third project in my lab is to identify rare DNA variations co-segregate with SLI in consanguineous families using exome sequencing. We performed sequencing in SLI families using the genomic core facility at KU and the bioinformatic analysis is underway in collaboration with Dr. Zhong.