CNV Workgroup

///CNV Workgroup
CNV Workgroup 2017-07-03T20:03:57+00:00

Group Leaders: Caroline Nievergelt PhD and Jonathan Sebat PhD

Copy number variation (CNV), generated through duplication or deletion events that affect one or more loci, is widespread in the human genomes and is often associated with functional consequences that may include changes in gene expression levels or fusion of genes. Genome-wide association (GWAS) studies indicate that some disease phenotypes and physiological pathways might be impacted by CNV in a small number of characterized genomic regions. However, the pervasiveness and full impact of such variation remains unclear. The repertoire of pathological CNVs is expanding, but a comprehensive map of all disease-causing CNVs is far from complete. We are applying suitable analytic methods to scrutinize human genomes for genomic structural variation, and to explore the interplay between observed CNV and PTSD.

Jonathan Sebat, PhD

Dr. Sebat is interested in understanding the molecular basis of neuropsychiatric disorders including schizophrenia, bipolar disorder, PTSD, and autism. He is interested in the role of copy number variants (CNVs) in disease. His approach is to apply advanced mutation-detection methods, including microarray and Next Generation Sequencing (NGS) technologies, to identify mutations that confer high risk of disease. He is investigating the functional impact of CNVs on genes and corresponding cellular pathways.

Caroline Nievergelt, PhD

Dr. Nievergelt’s research currently focuses on biomarkers for psychiatric disorders such as PTSD and bipolar disorder and she is leading the statistical analysis group of the Psychiatric Genomics Consortium PTSD group. Dr. Nievergelt received her B.S. in Biology, M.S. in Neurobiology, and Ph.D. in Biological Anthropology from the University of Zuerich in Switzerland. She joined UCSD in 1996 as a postdoctoral fellow to train in population and molecular genetics in the Department of Biology, followed by training in statistical genetics in the Department of Psychiatry. In 2007 she was recruited by the Scripps Research Institute as an Assistant Professor in the Department of Molecular and Experimental Medicine where she worked as a geneticist on phenotypes related to cardiovascular disease, circadian rhythms, mental health, and longevity. Dr. Nievergelt joined the UCSD faculty in 2008 and is the Principal Investigator on awards from the National Institute of Health. She is also Associate Director of the Health and Neuroscience Unit of the Center of Excellence for Stress and Mental Health at the San Diego Veterans Healthcare System and an active member of the UCSD Center for Academic Research and Training in Anthropogeny (CARTA) and the Center for Circadian Biology (CCB).