Ravinesh A. Kumar, Ph.D.
- Director of Research for the Conte Center for Computational Neuropsychiatric Genomics
The University of Chicago
Knapp Center for Biomedical Discovery
900 East 57th Street
Chicago, IL 60637
Phone: (773) 702-6799
Dr Kumar is interested in the genetic and environmental architecture of mental health and illness, including autism, schizophrenia, and psychopathology. As Director of Research for the Conte Center for Computational Neuropsychiatric Genomics, Dr. Kumar directs and manages the research activities, education & training, and major scientific and financial operations of this cross-disciplinary and multi-institutional enterprise, which includes The University of Chicago, Northwestern University, University of Illinois at Chicago, Stanford University, Harvard University, Columbia University, and University of Haifa in Israel. He also spearheads several research projects including 1) molecular genetic studies of conduct disorder, one of the most prevalent forms of child and adolescent psychopathology and 2) evaluating candidate genes for autism and schizophrenia using human induced pluripotent stem cells (iPSCs), neuronal progenitor cells and combinatorial RNA interference (RNAi).
Dr. Kumar joined The University of Chicago as a postdoctoral fellow in 2007 to investigate the genetics of neurodevelopmental disorders, including autism spectrum disorders, severe cortical malformations and epilepsy. He and others demonstrated that 16p11.2 microdeletions are among the most frequent chromosomal abnormalities associated with autism, a discovery that represented one of the top ten scientific achievements in autism research in 2008 (Kumar et al, Human Molecular Genetics, 2008). This work also received the prize for 'Best Biological Research Paper' awarded by the International Society for Autism Research at their annual meeting in 2009. Dr. Kumar was also part of the team that demonstrated that 16p11.2 chromosomal imbalances are implicated in schizophrenia (McCarthy et al, Nature Genetics, 2009) and infantile seizure disorder (Bedoyan et al, American Journal of Medical Genetics, 2010).
In his most recent work with the Conte Center, Dr. Kumar and collaborators Dr. Benjamin Lahey and Dr. Jean Decety are investigating the genetic and structural basis of conduct disorder using molecular genetics and functional magnetic resonance imaging (fMRI). Specifically, the team has selected candidate genes that include ESR1 (estrogen receptor), OXTR (oxytocin receptor), GABRA2 (GABA receptor), MAOA (monoamine oxidase A), 5-HTT (serotonin transporter), AVPR1(arginine vasopressin receptor), and COMT (catechol-O-methyltransferase). The team will look for associations between genetic variants in these genes and brain-behavioral phenotypes relevant to child and adolescent psychopathology.
During his doctoral work at The University of British Columbia in Vancouver, Ravinesh Kumar and colleagues demonstrated that pathologically violent 'fierce' mice are deleted for a single nuclear receptor gene called Nr2e1 (Kumar et al, Genesis, 2004). He went on to test the hypothesis that human NR2E1 underlies brain and behavioral development in neuropsychiatric and related disorders. To bolster this hypothesis, he used molecular, bioinformatic, and evolutionary genetic approaches to study NR2E1 in children with microcephaly (Kumar et al, Genes, Brain and Behavior, 2007), in children with microcepahtly, micropthalmia, ectrodactyly, and prognathism (MMEP) (Kumar et al, BMC Medical Genetics, 2007), and in adults with bipolar disorder, schizophrenia, and pathological aggression, including intermittent explosive disorder (Kumar et al, Neuropsychiatric Genetics, 2008).
During his postdoctoral studies, Dr. Kumar also identified three genetic risk factors for autism, including the seizure-related gene SEZ6L2 (Kumar et al , PLoS ONE, 2009) and two synaptic vesicle genes: APBA2 (Babatz et al, Autism Research, 2009) and RIMS3 (Kumar et al, Journal of Medical Genetics, 2010). In addition, he spearheaded a project that implicated mutations in the alpha tubulin gene TUBA1Awith wide spectrum lissencephaly, making this the first major gene associated with 'lissencephaly with cerebellar hypoplasia (LCH)' (Kumar et al, Human Molecular Genetics, 2010). His postdoctoral work also involved the development of integrated bioinformatics platforms and computational networks-based disease models to provide a conceptual framework for systems-level exploration of complex genotype-phenotype relations in complex disorders. Dr. Kumar hopes to combine his expertise and interests in neurodevelopmental and psychiatric genetics together with strong leadership and administrative skills to help lead the new Conte Center and establish its international identify as a cutting-edge institution for computational neurospsychiatric genomics.
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