Biography and Expertise
Gene discovery of rare genetic disorders and birth defects.
My laboratory is interested in studying single gene disorders (simple disorders) independent of the phenotype, with focus on rare disorders. I have adopted a strategy that employs genomic sequencing (exome, genome) guided by homozygosity mapping to identify genes responsible for autosomal recessive disorders using inbred families from the Middle East. I apply a similar strategy for the identification of genes responsible for autosomal dominant disorders. The goal that is facilitated by the identification of genes responsible for human genetic disorders is the attempt to identify mechanisms and biologic pathways underlying physiologic and developmental processes. The addition of long-read nucleic acid sequencing capability to my laboratory is allowing for the examination of structural rearrangements, phasing of variants and genotyping methylated bases.
Genetics of Autism Spectrum Disorder (ASD), Intellectual Developmental Disorder (ID) and epilepsy
My laboratory is interested in studying the contribution of genetic factors identified from studying single gene disorders, especially autosomal recessive disorders, to the etiology of complex multifactorial disorders, particularly those leading to childhood disabilities, such as autism, non-specific cognitive impairment, and epilepsy.
Gene identification in syndromic autoinflammatory disorders and other innate immunity related disorders.
Autoinflammatory disorders are innate immune system driven disorders in which there are recurrent episodes of inflammation. Several of these disorders target the bone including chronic recurrent multifocal osteomyelitis (CRMO) in which sterile osteomyelitis often co-occurs with inflammation of the intestine, skin, or joints. In collaboration with Dr. Ferguson and others, we identified the genetic basis of several forms of CRMO (Majeed syndrome and DIRA), as well as the gene defect in the cmo mouse. Our teams are employing next generation sequencing (exome and genome) to identify other genes responsible for innate immunity related disorders.