Lionel Sharples Penrose, FRS was an English psychiatrist, medical geneticist, paediatrician, mathematician and chess theorist, who carried out pioneering work on the genetics of intellectual disability. Penrose was initially the Galton professor of eugenics (1945–1963) at University College London, before having his title changed to professor of human genetics (1963–1965) at his request. He was later emeritus professor.
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.
Judith Goslin Hall is a pediatrician, clinical geneticist and dysmorphologist who is a dual citizen of the United States and Canada.
Sir David John Weatherall, was a British physician and researcher in molecular genetics, haematology, pathology and clinical medicine.
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.
Malcolm Andrew Ferguson-Smith, is a British geneticist.
Sir Peter Stanley Harper was a British physician and academic who was University Research Professor (Emeritus) in Human Genetics at Cardiff University. His work focused on researching neurogenetics and has resulted in discoveries concerning muscular dystrophies and Huntington's disease. He was knighted in 2004 for services to medicine.
Andrew P. Read is a British medical geneticist.
Martin Bobrow is a British geneticist, and Emeritus Fellow, Wolfson College, Cambridge.
Shirley Victoria Penrose Hodgson is a British geneticist.
The History of Modern Biomedicine Research Group (HoMBRG) is an academic organisation specialising in recording and publishing the oral history of twentieth and twenty-first century biomedicine. It was established in 1990 as the Wellcome Trust's History of Twentieth Century Medicine Group, and reconstituted in October 2010 as part of the School of History at Queen Mary University of London.
Andrew Oliver Mungo Wilkie is a British clinical geneticist who has been the Nuffield professor of Pathology at the University of Oxford since 2003.
Sir Douglass Matthew Turnbull is Professor of Neurology at Newcastle University, an Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals NHS Foundation Trust and a director of the Wellcome Trust Centre for Mitochondrial Research.
Professor Susan Povey FMedSci, was a British geneticist.
Professor Dian Donnai is a British medical geneticist.
Professor Jane S. Green PhD,, Hon FCCMG, FCAHS is a Canadian medical geneticist.
Robert Williamson is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders.
Charis Eng was a Singaporean American physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She was 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.
Swee Lay Thein is a Malaysian haematologist and physician-scientist who is Senior Investigator at the National Institutes of Health. She works on the pathophysiology of haemoglobin disorders including sickle cell disease and thalassemia.
Helen V. Firth is a British geneticist who specialises in the application of new genomic technologies to improve the diagnosis of severe developmental disorders. She is clinical lead for the UK-wide Deciphering Developmental Disorders project and global DECIPHER platform for data-sharing in rare disease. In 2020, she was elected a Fellow of the Academy of Medical Sciences.
