Neurogenetics and Neurogenomics

Kristen Brennand, PhD is the Elizabeth Mears and House Jameson Professor of Psychiatry and Professor of Genetics at Yale University School of Medicine. She first established her independent laboratory in the Pamela Sklar Division of Psychiatric Genomics at the Icahn School of Medicine at Mount Sinai in 2012, after having completed post-doctoral training at the Salk Institute for Biological Studies and PhD studies at Harvard University. Dr. Brennand’s research combines expertise in genomic engineering, neuroscience, and stem cells, to identify the mechanisms that underlie brain disease. Her focus lies in resolving the convergence of, and complex interplay between, the many risk variants linked to disease, towards the goal of facilitating the clinical translation of genetic findings.  Dr. Brennand’s work is funded by the National Institutes of Health, the New York Stem Cell Foundation, the Brain Research Foundation, and the Brain and Behavior Research Foundation.

Dr. Matt Girgenti is an Assistant Professor of Psychiatry at Yale School of Medicine. He is a neuroscientist and molecular biologist and a member of the Division of Molecular Psychiatry and the Wu Tsai Institute at Yale. He is also a VA-NCPTSD Research Scientist at the West Haven VA Medical Center. He received his doctoral degree at the University of Connecticut in molecular neuroscience. He completed his postdoctoral fellowship in Molecular Psychiatry at Yale followed by a VA Career Development fellowship in postmortem brain genomics. His early research focused on the epigenetic basis of schizophrenia using neural stem cells to demonstrate a role for the SCZ-risk gene ZNF804a as a gene transcription regulator. During his postdoc, his research focused on the cell-type-specific effects of rapid antidepressants, including ketamine and scopolamine using pharmacogenomic approaches. During his VA Career Development fellowship he worked on human postmortem studies focused on the functional genomics of neuropsychiatric disorders, specifically PTSD and major depression. He published the first genome-wide transcriptomic study of the human PTSD brain (Girgenti MJ, et al. 2021). His research now focuses on genomic studies of the postmortem human brain, combining molecular biology and bioinformatics to understand the neurobiology of major brain and behavioral disorders, including depression, PTSD, and alcohol use disorder.

Dr. Gruen received his BS and his MD degrees from Tulane University in New Orleans. He has been at Yale since beginning internship training in pediatrics in 1981, which was followed by subspecialty training in neonatology and research training in molecular genetics with Dr. Sherman Weissman. Dr. Gruen formally joined the faculty at Yale in 1988, splitting his time as a neonatology attending in the Newborn Intensive Care Unit (NICU) at Yale-New Haven Hospital and his lab where he initially mapped the gene for hemochromatosis. By 2000, the focus of his lab turned to mapping and identifying the reading disability (dyslexia) gene locus on chromosome 6 (DYX2). His lab was the first to generate high-resolution genetic markers, genetic association maps, and gene expression maps of DYX2. These studies led to the identification of DCDC2, a dyslexia gene that was cited by the journal Science as the 5th top breakthrough of 2005. The lab performed an NIH funded clinical study of DCDC2 and other genes related to reading and language in the ALSPAC birth cohort of 10,000 children and mothers. These studies identified the transcriptional control element called READ1, and READ1 alleles that are detrimental and protective for reading disability and language impairment. Dr. Gruen is the principal investigator for the Yale Genes, Reading and Dyslexia (GRaD) Study, a ground-breaking case-control study of dyslexia in 1,400 Hispanic American and African American children recruited from seven sites across North America. He was the Yale site PI for the NIH Pediatric Imaging NeuroGenetics (PING) Data Resource Study of 1,575 normal children, ages 3-20 years. Most recently, Dr. Gruen started the New Haven Lexinome Project, a new six-year longitudinal study of the genetics of response-to-intervention spanning the entire 2015 and 2016 New Haven Public Schools first grade classes. The goals of the New Haven Lexinome Project are to determine risk for learning disabilities conferred by specific genetic variants for presymptomatic diagnosis, and to determine how genetic variants inform intervention for precision/personal education. In addition to his research, Dr. Gruen continues to attend 8 weeks each year in the NICU at the Children’s Hospital at Yale-New Haven. How genes can change language. Short video showing how our genes could account for a substantial amount of the diversity of languages around the world

Junjie Guo received his B.A. in Biology from Peking University and completed his Ph.D. thesis in the Solomon H. Snyder Department of Neuroscience at Johns Hopkins University School of Medicine, working on neuronal DNA methylation. During his postdoctoral training at the Whitehead Institute/MIT, he developed a series of high-throughput computational and experimental methods to investigate circular RNAs and intracellular RNA folding. He joined the Department of Neuroscience at Yale School of Medicine in Fall 2017. The Guo lab is broadly interested in questions at the intersection of RNA biology and Neuroscience, with a focus on understanding the mechanisms and functions of mRNA translation control in the nervous system as well as its dysregulation in neurological disorders caused by nucleotide repeat expansions.

Abha R. Gupta obtained her BS in Molecular Biophysics and Biochemistry from Yale University. She earned her MD and PhD (Neuroscience) degrees at the University of Pennsylvania. She completed a residency in general pediatrics at the Children's Hospital of Philadelphia (CHOP) and a clinical fellowship in Developmental-Behavioral Pediatrics at CHOP and Yale School of Medicine. Her clinical and research interests are in autism spectrum disorder (ASD), especially regressive conditions such as childhood disintegrative disorder (CDD). She obtained postdoctoral research training in the genetic investigation of ASD. As a principal investigator, she is pursuing both the genetics and neurobiology (stem cell modeling) of ASD.

Ellen J. Hoffman, M.D., Ph.D. was appointed as Assistant Professor in the Child Study Center in July 2015. Ellen is a child psychiatrist, psychiatric geneticist and neurobiologist, and a graduate of the Investigative Medicine PhD Program at Yale, who specializes in the functional analysis of genes in neurodevelopmental disorders. The Hoffman laboratory conducts translational research aimed at understanding the biological mechanisms underlying autism spectrum disorders and discovering new pharmacological treatments. Ellen's research focuses on investigating the function of genes that are strongly associated with autism to determine how disruption of these genes alters brain development and the neural circuits underlying simple behaviors. The long-term goal of her research is to use this gene-based approach to identify relevant biological pathways and novel pharmacological treatments that target these pathways. Ellen also works clinically as a child psychiatrist and as an attending supervising Yale child psychiatry fellows.

Dr. Laura Huckins is an Associate Professor in the Department of Psychiatry. She received her masters in BioEngineering from Imperial College London in 2011, and her PhD in Molecular Biology and Psychiatric Genetics from the University of Cambridge in 2015. Her research focuses primarily on studying psychiatric disorders, with an emphasis on eating disorders and PTSD, as well as development and application of multi-omic methods to interpret the functional consequences of GWAS variants. Her lab focuses particularly on Eating Disorders and PTSD; to this end, she is co-chair of the PGC Eating Disorders working group.Dr. Huckins' work is funded by the Klarman Family Foundation, the National Institute of Mental Health, and the National Institute of Environmental Health Sciences.

Dr. Angeliki Louvi (PhD, Columbia University Irving Medical Center, 1997) is Professor of Neurosurgery and of Neuroscience, Deputy Director of the MD-PhD Program, and member of the Yale Interdepartmental Neuroscience Program (INP) and the Yale Program on Neurogenetics. She is interested in understanding how the perturbation of basic biological processes leads to clinically significant brain pathology. Her laboratory investigates the cellular and molecular mechanisms underlying cerebrovascular and structural brain disorders associated with specific genetic lesions.

Chris Pittenger earned his MD and Ph.D. degrees from Columbia University, where his graduate work was done with Nobel Prize recipient Eric Kandel. He returned to Yale University, his undergraduate alma mater, for residency and research training in psychiatry in 2003. He joined the faculty as an Assistant Professor in 2007 and is now Elizabeth Mears and House Jameson Professor of Psychiatry, Professor of Psychology and in the Child Study Center, and Deputy Chair for Translational Research in the Department of Psychiatry .Chris has always been fascinated by the question of how the brain, a complex but ultimately a physical structure, creates thought, feeling, consciousness, and other aspects of the mind.  As a psychiatrist he is additionally focused on how these processes go wrong - how brain dysregulation leads to dysregulated cognition, emotion, and behavior and to mental suffering, and how advancing our understanding of these relationships can guide us to new strategies to alleviate that suffering.  Much of his work has focused on obsessive-compulsive disorder and Tourette syndrome and on the cortico-basal ganglia circuitry that is implicated in their pathophysiology.  More recently he has co-founded the Yale Program for Psychedelic Science, focused on understanding how molecules like psilocybin and LSD can teach us about brain and behavior and may lead to new treatments for a range of neuropsychiatric pathology.  He is also one of the founding Directors of the Yale Center for Brain and Mind Health, which seeks to bridge disciplines and levels of analysis to bring new therapeutics to individuals suffering from disorders of the mind and brain.Dr. Pittenger's research and clinical work have been acknowledged by a number of prestigious awards, including grant funding from the National Institute of Mental Health, the National Institute of Neurological Disease and Stroke, NARSAD, the Tourette Syndrome of America, the Doris Duke Charitable Trust, and other organizations.  He has won a number of awards, including from the National Institute of Mental Health, the Society for Neuroscience, the American College of Neuropsychopharmacology, the American Psychiatric Association, and the American College of Psychiatrists. He is a member of the Scientific Advisory Board of the International OCD Foundation and Chair of both their Grant Review Committee and their Annual Research Symposium Planning Committee.  He is a Fellow of the American College of Neuropsychopharmacology, the American Psychiatric Association, and the American Neurological Association.

Dr. Renato Polimanti is Associate Professor of Psychiatry and of Biomedical Informatics and Data Science at the Yale School of Medicine and Associate Professor of Chronic Disease Epidemiology at the Yale School of Public Health. He is also Associate Director for Scientific and Technical Operations of the Clinical Epidemiology Research Center at the VA Connecticut Healthcare System. Dr. Polimanti’s primary research interest is to apply big data analytics to molecular, clinical, and imaging data to understand the biology and the epidemiology of human traits and disease and to develop tools to improve the healthcare of diverse population groups. His ongoing studies are supported by the National Institutes of Health and the Department of Veterans Affairs. Dr. Polimanti contributed to more than 200 peer-reviewed publications including 42 as first author, 70 as senior author, and two as sole author. His group is also involved in large collaborative projects, including the Psychiatric Genomics Consortium and the Million Veteran Program.

Hongying (Hoy) Shen is an assistant professor at Cellular & Molecular Physiology at Yale School of Medicine and Systems Biology Institute at Yale West Campus from Jan 2020. Dr. Shen is interested to use multidisciplinary approaches ranging from biochemistry, cell biology, genetics, molecular evolution, and metabolomics to study cellular metabolism underlying human health and diseases, which would ultimately offer new directions for diagnostics and therapeutics. Specifically, we will focus on the “deorphanization” of hundreds of enzymes and transporters of unknown functions that are encoded in the human genome and are important to cellular and organismal physiology. Dr. Shen received her B.S. in chemistry from Nanjing University in China in 2006 and her Ph.D. in Molecular Biophysics and Biochemistry (MB&B) at Yale University in 2013, where she studied membrane curvature formation and lipid metabolism in endocytic trafficking in the laboratory of Dr. Pietro De Camilli at the cell biology department. She then completed her postdoctoral training with Dr. Vamsi Mootha at Massachusetts General Hospital and Harvard Medical School to develop integrated metabolomics and CRISPR screen approaches to study mitochondrial metabolism.

Stephen M. Strittmatter earned his undergraduate degree from Harvard College, summa cum laude, in 1980. He completed M.D. and Ph.D. training at Johns Hopkins in 1986 with mentorship from Solomon H. Snyder, M.D. He then moved to Massachusetts General Hospital for a medical internship and an Adult Neurology residency. While at Massachusetts General Hospital, he worked as a Research Fellow with Mark Fishman, M.D., exploring the molecular basis of axonal guidance. After a year as Fellow, he served briefly as an Assistant Professor at Harvard Medical School before moving to Yale University in 1993. He currently holds the Vincent Coates Professorship of Neurology and co-founded the Yale Program in Cellular Neuroscience, Neurodegeneration and Repair. His research has been recognized by honors from the King Faisal International Prize for Medicine, the Ameritec Foundation, the John Merck Fund, the Donaghue Foundation, the McKnight Foundation, the Jacob Javits Award of the NINDS and the American Academy of Neurology. He has been chair of the Department of Neuroscience since September 2021.

Flora Vaccarino is the Harris Professor at the Child Study Center and Professor in the Department of Neuroscience at Yale University. She received her MD from the University of Padova in Italy. She spent few years as Neuropharmacology Fellow at NIH, trained in clinical psychiatry at Yale, and then was a Research Fellow in developmental genetics at the Yale School of Medicine, where she raised through the ranks to Assistant, Associate and full Professor. Vaccarino leads a multidisciplinary research group working towards new directions for the study of mammalian brain development, particularly human, using stem cell biology and genomics as tools. She has been studying brain development in animal models for over 20 years, focusing on the role of growth factor receptor signaling in the regulation of stem cell behavior and cerebral cortex morphogenesis. Inspired by Sasai’s work, Vaccarino and her lab pioneered the generation of 3D brain organoids from induced pluripotent stem cells (iPSCs) in 2012, and showed that they recapitulate early fetal development of the human cerebral cortex. They then performed an extensive comparison of the organoid’s transcriptome and noncoding elements with isogenic postmortem human fetal cortex and characterized gene regulatory mechanisms that shape the earliest cell fate decisions in human cortical development. Her lab has generated an extensive collection of patient-derived iPSC lines to study altered gene regulatory mechanisms in Autism Spectrum Disorders. Her interests include human somatic genomic variation as a tool to study lineage specification in human embryonic development. She was one of the fiunding members of the Brain Somatic Mosaicism Network (BSMN), a multi-site consortium that studied somatic mosaicism and its implication for neuropsychiatric diseases. Vaccarino is a Fellow of American Association for the Advancement of Science and a member of the PsychENCODE the Somatic Mosaicism across Human Tissues ( SMaHT) Consortia.