Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Veronica van Heyningen is an English geneticist who specialises in the etiology of anophthalmia as an honorary professor at University College London (UCL). She previously served as head of medical genetics at the MRC Human Genetics Unit in Edinburgh and the president of The Genetics Society. In 2014 she became president of the Galton Institute. As of 2019 she chairs the diversity committee of the Royal Society, previously chaired by Uta Frith.
Gilean Alistair Tristram McVean is a professor of statistical genetics at the University of Oxford, fellow of Linacre College, Oxford and co-founder and director of Genomics plc. He also co-chaired the 1000 Genomes Project analysis group.
Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups.
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities and pathogenic sequence variants, from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups.
Andrea Hilary Brand is the Herchel Smith Professor of Molecular Biology and a Fellow of Jesus College, Cambridge. She heads a lab investigating nervous system development at the Gurdon Institute and the Department of Physiology, Development and Neuroscience. She developed the GAL4/UAS system with Norbert Perrimon which has been described as “a fly geneticist's Swiss army knife”.
Wendy K. Chung is an American clinical and molecular geneticist and physician. She is the Chair of the Department of Pediatrics at Boston Children's Hospital and is on the faculty at Harvard Medical School. She is the author of 700 peer-reviewed articles and 75 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally and was among the plaintiffs in the Supreme Court case which banned gene patenting.
Anuranjan Anand is a geneticist studying the cellular and molecular basis of human disorders. He is a professor at the Molecular Biology and Genetics Unit and an associate faculty at the Neuroscience Unit of Jawaharlal Nehru Centre for Advanced Scientific Research.
Uta Francke is a German-American physician-geneticist known for her accomplishments in mapping genes to specific chromosome locations and discovering the genes and underlying mutations responsible for Prader-Willi and Rett syndromes. Her work on detailed mapping of human chromosome laid the foundation of the Human Genome Project and discovery of many other rare genetic disorders. She is currently a professor of Genetics and Pediatrics Emerita at Stanford University. She has also served as a consultant to 23andMe Inc since 2007, and as a part-time employee from 2010-2013.
Robert Williamson is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders.
James Francis Gusella is a Canadian molecular biologist and geneticist known for his work on Huntington's disease and other neurodegenerative diseases in humans. He is the Bullard Professor of Neurogenetics in the Department of Genetics at Harvard Medical School and an investigator at the Center for Genomic Medicine at the Mass General Research Institute.
Charis Eng is a Singapore-born physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She is the Chairwoman and founding Director of the Genomic Medicine Institute of the Cleveland Clinic, founding Director and attending clinical cancer geneticist of the institute’s clinical component, the Center for Personalized Genetic Healthcare, and Professor and Vice Chairwoman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.
Naomi Ruth Wray 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. 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.
Nicole Soranzo is an Italian-British senior group leader in human genetics at the Wellcome Sanger Institute, Professor of Human Genetics at the University of Cambridge. She is an internationally recognised Human Geneticist who has focused on the application of cutting edge genomic technologies to study the spectrum of human genetic variation associated with cardio-metabolic and immune diseases. She has led many large-scale discovery efforts including more than 1,000 novel genetic variants associated with cardio-metabolic diseases and their risk factors as well as establishing the HaemGen consortium, which is a worldwide effort to discover genetic determinants of blood cell formation and also interpretation of the downstream consequences of sequence variation through a host of integrative analyses and functional approaches.
Margaret Ann Pericak-Vance is an American human geneticist who is the Dr. John T. Macdonald Foundation Professor of Human Genetics and director of the John P. Hussman Institute for Human Genomics at the University of Miami. She is known for her research on the genetics of common human diseases. This research has led to a number of findings of genes that increase the risk of certain diseases, such as apolipoprotein E and Alzheimer's disease, IL7R and multiple sclerosis, and complement factor H and macular degeneration.
Matthew Edward Hurles is director of the Wellcome Sanger Institute and an honorary professor of Human Genetics and Genomics at the University of Cambridge.
Elizabeth M. McNally is an American human geneticist and cardiologist. She is the Elizabeth J. Ward Chair and director of the Center for Genetic Medicine at Northwestern University's Feinberg School of Medicine.
John Christodoulou is an Australian medical geneticist, genetic pathologist and clinical scientist. He is director of the Genetics Theme and Group Co-Leader of the Brain and Mitochondrial Research Group at Murdoch Children's Research Institute. Additionally, he holds the Chair in Genomic Medicine, Department of Paediatrics, The University of Melbourne.
SLC13A5 citrate transporter disorder, or SLC13A5 Epilepsy, is a rare genetic spectrum disorder that presents with neurological symptoms. Symptoms include severe seizures, ataxia, dystonia, teeth hypoplasia, poor communication skills, difficulty standing or walking, as well as developmental delay. Other names associated with SLC13A5 Epilepsy include SLC13A5 Citrate Transporter Disorder, Citrate Transporter Disorder, SLC13A5 Deficiency, Early Infantile Epilepsy Encephalopathy 25 (EIEE25), Developmental Epilepsy Encephalopathy 25 (DEE25), and Kohlschutter-Tonz Syndrome (non-ROGDI).
