The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is explained more by multigene effects than by rare mutations with large effects.
Psychiatric epidemiology is a field which studies the causes (etiology) of mental disorders in society, as well as conceptualization and prevalence of mental illness. It is a subfield of the more general epidemiology. It has roots in sociological studies of the early 20th century. However, while sociological exposures are still widely studied in psychiatric epidemiology, the field has since expanded to the study of a wide area of environmental risk factors, such as major life events, as well as genetic exposures. Increasingly neuroscientific techniques like MRI are used to explore the mechanisms behind how exposures to risk factors may impact psychological problems and explore the neuroanatomical substrate underlying psychiatric disorders.
Psychiatric genetics is a subfield of behavioral neurogenetics and behavioral genetics which studies the role of genetics in the development of mental disorders. The basic principle behind psychiatric genetics is that genetic polymorphisms are part of the causation of psychiatric disorders.
Peter McGuffin was a Northern Irish psychiatrist and geneticist from Belfast.
NPAS3 or Neuronal PAS domain protein 3 is a brain-enriched transcription factor belonging to the bHLH-PAS superfamily of transcription factors, the members of which carry out diverse functions, including circadian oscillations, neurogenesis, toxin metabolism, hypoxia, and tracheal development. NPAS3 contains basic helix-loop-helix structural motif and PAS domain, like the other proteins in the superfamily.
Sophia Frangou is a professor of psychiatry at the Icahn School of Medicine at Mount Sinai where she heads the Psychosis Research Program. She is a Fellow of the Royal College of Psychiatrists and vice-chair of the RCPsych Panamerican Division. She is a Fellow of the European Psychiatric Association (EPA) and of the American Psychiatric Association (APA). She served as vice-president for Research of the International Society for Bipolar Disorders from 2010 to 2014. She has also served on the Council of the British Association for Psychopharmacology. She is founding member of the EPA NeuroImaging section and founding chair of the Brain Imaging Network of the European College of Neuropsychopharmacology. She is one of the two Editors of European Psychiatry, the official Journal of the European Psychiatric Association.
Glyn Lewis is a British professor of psychiatric epidemiology and the current head of the Division of Psychiatry at University College London
The imprinted brain hypothesis is an unsubstantiated hypothesis in evolutionary psychology regarding the causes of autism spectrum and schizophrenia spectrum disorders, first presented by Bernard Crespi and Christopher Badcock in 2008. It claims that certain autistic and schizotypal traits are opposites, and that this implies the etiology of the two conditions must be at odds.
The missing heritability problem arises from the difference between heritability estimates from genetic data and heritability estimates from twin and family data across many physical and mental traits, including diseases, behaviors, and other phenotypes. This is a problem that has significant implications for medicine, since a person's susceptibility to disease may depend more on the combined effect of all the genes in the background than on the disease genes in the foreground, or the role of genes may have been severely overestimated.
Pamela Sklar was an American psychiatrist and neuroscientist. She was Chair of the Department of Genetics and Genomic Sciences and professor of psychiatry, neuroscience, and genetic and genomic sciences at the Icahn School of Medicine at Mount Sinai. She was also chief of the Division of Psychiatric Genomics at the Icahn School of Medicine at Mount Sinai. Sklar is known for her large-scale gene discovery studies in bipolar disorder and schizophrenia and for making some of the first statistically meaningful gene identifications in both mental illnesses.
The Stanley Center for Psychiatric Research at Broad Institute of MIT and Harvard is a multi-disciplinary biomedical research program located in Cambridge, Massachusetts that studies the biological basis of psychiatric disease.
In genetics, a polygenic score (PGS) is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype. The PGS is also called the polygenic index (PGI) or genome-wide score; in the context of disease risk, it is called a polygenic risk score or genetic risk score. The score reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. It gives an estimate of how likely an individual is to have a given trait based only on genetics, without taking environmental factors into account; and it is typically calculated as a weighted sum of trait-associated alleles.
Naomi Ruth Wray PhD is an Australian statistical geneticist at the University of Queensland, where she is a Professorial Research Fellow at the Institute for Molecular Bioscience and an Affiliate Professor in the Queensland Brain Institute. She is also a National Health and Medical Research Council (NHMRC) Principal Research Fellow and, along with Peter Visscher and Jian Yang, is one of the three executive team members of the NHMRC-funded Program in Complex Trait Genomics. She is also the Michael Days Chair of Psychiatric Genetics at Oxford University. Naomi pioneered the use of polygenic scores in human genetics, and has made significant contributions to both the development of methods and their clinical use.
Ming Tso Tsuang is an American psychiatrist and Distinguished Professor of Psychiatry at the University of California, San Diego. He is considered a pioneering researcher in the genetic epidemiology of schizophrenia and other severe mental disorders. Tsuang has authored and co-authored more than 600 publications and serves as founding and senior editor of the American Journal of Medical Genetics Part B.
Michael C. O'Donovan is a Scottish psychiatric geneticist who researches the genetics of schizophrenia. He is a clinical professor in the Division of Psychological Medicine and Clinical Neurosciences and the deputy director of the MRC Centre for Neuropsychiatric Genetics and Genomics at the Cardiff University School of Medicine in Cardiff, Wales. He also leads the Schizophrenia Group of the Psychiatric Genomics Consortium. Educated at Glasgow University, he also serves as Academic Psychiatry Lead for the Royal College of Psychiatrists in Wales. He was lead author of a 2014 study in Nature which identified over 100 genetic loci associated with an increased risk of schizophrenia. The study, the largest of its kind undertaken at the time, was covered extensively in the media. It was also praised by Thomas Insel, the then-director of the National Institute of Mental Health, who described the study as "a big step forward".
Heather Clare Whalley is a Scottish scientist. She is a senior research fellow in neuroimaging at the Centre for Clinical Brain Sciences, University of Edinburgh, and is an affiliate member of the Centre for Genomic and Experimental Medicine at the University of Edinburgh. Her main focus of research is on the mechanisms underlying the development of major psychiatric disorders using the latest genomic and neuroimaging approaches.
The Psychiatric Genomics Consortium (PGC) is an international consortium of scientists dedicated to conducting meta- and mega-analyses of genomic-wide genetic data, with a focus on psychiatric disorders. It is the largest psychiatric consortium ever created, including over 800 researchers from 38 countries as of 2019. Its goal is to generate information about the genetics of psychiatric conditions that will be "actionable", that is, "genetic findings whose biological implications can be used to improve diagnosis, develop rational therapeutics, and craft mechanistic approaches to primary prevention". The consortium makes the main findings from its research freely available for use by other researchers.
Impute.me. was an open-source non-profit web application that allowed members of the public to use their data from direct-to-consumer (DTC) genetic tests to calculate polygenic risk scores (PRS) for complex diseases and cognitive and personality traits. In July 2022, Lasse Folkerson, initiator and operator of impute.me, took the website offline.
Andrew M. McIntosh is a UK academic psychiatrist. He is Professor of Biological Psychiatry at the Centre for Clinical Brain Sciences, University of Edinburgh, and is an affiliate member of the Centre for Genomic and Experimental Medicine at the University of Edinburgh. The main focus of his research is using genomic and neuroimaging approaches to better understand the causes and causal consequences of Major Depressive Disorder.
Robert Keers was a British psychologist conducting innovative research on individual differences in mental health problems with a specific focus on psychiatric genetics.
