The Shaikh lab investigates the genetic basis of neurodevelopmental and neuropsychiatric disorders. Their main focus is on identifying the genetic mutations that underlie multiple congenital anomaly syndromes (MCAS). Children with MCAS may have multiple phenotypic features which include global developmental delay, intellectual disabilities and deficits, other neurological phenotypes such as seizure disorders, behavioral issues, etc., cranio-facial differences, cardiac defects and/or defects in other tissues and organs. They are also interested in the area of neuropsychiatric genetics specifically in ADHD, autism spectrum disorders and schizophrenia. Since a majority of the disorders being studied have a neurological component, they expect to identify genes critical in neurodevelopmental pathways. The identification and characterization of causative genes, will allow a better understanding of the genetic and developmental pathways underlying this group of seemingly heterogeneous disorders.
Dr. Shaikh’s group uses high resolution genomic technologies including microarrays and high-throughput sequencing to identify genetic mutations in patient samples. In the past, they have collected and analyzed over 900 MCAS patients for copy number variations (CNVs) using high resolution, oligonucleotide microarrays. In a significant proportion (25%) of the patients, they have identified novel, pathogenic copy number alterations, resulting from microdeletions, and microduplications, which affect one or more dosage-sensitive gene(s). Using computational tools and available genomic data resources, they have identified candidate genes in many of the newly discovered genetic disorders. They are now beginning to analyze the effect of haploinsufficiency of these genes using functional genomics approaches and animal models (mainly zebrafish). They continue to utilize state-of-the-art, microarray and sequencing technologies, for whole exome and genome analysis in order to detect the genetic mutations in patients with undiagnosed MCAS with neurodevelopmental and associated phenotypes.