Neuropsychiatric diseases remain a relatively uncharted frontier in medicine. Major neuropsychiatric diseases affect a significant proportion of Americans, and the costs in terms of lost years of productivity are enormous for patients and their families.
To this end, the mission of the Pamela Sklar Division of Psychiatric Genomics (DPG) is to promote precision medicine, “an emerging approach for prevention and treatment that takes into account each person’s variability in genes, environment, and lifestyle” across neuropsychiatric diseases.
Our work in DPG has four major areas of focus that are critical for precision psychiatry.
- Genetics and genomics: Large-scale genomic studies in clinical populations are detecting genes involved in several psychiatric diseases including bipolar disorder, schizophrenia, and post-traumatic stress disorder (PTSD). Researchers are leading initiatives to obtain genomic sequence data from thousands of individuals affected by illnesses in order to increase the number of risk variants.
- Multi-scale neurogenomics: Multi‐scale neurogenomic studies in approximately 2,000 phenotypically well‐characterized healthy and diseased human postmortem brains generates unbiased genome‐wide profiles of gene expression and epigenome regulation at the tissue, cell‐type specific, or single cell level. These efforts will accelerate the discovery of non‐coding functional genomic elements in the human brain, and elucidate their role in the molecular pathophysiology of psychiatric disorders
- Functional validation: The next steps for the field of psychiatry will be to connect genetic vulnerability loci with underlying molecular mechanisms in order to understand the pathobiology for each psychiatric disease. Researchers are using stem cells to perform sensitive and high throughput functional validation of disease predisposition in a cell-type-specific and context-dependent manner.
- Translational research: We use genomic data in clinical samples to predict the disease outcome, optimize treatment, and perform early-stage investigation of new treatments and tests for neuropsychiatric disorders. This effort will accelerate the translation of genetic and genomics to the clinic.