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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.
The following outline is provided as an overview of and topical guide to genetics:
B K Thelma commonly known as Bittianda Kuttapa Thelma is a professor in the Department of Genetics at the University of Delhi, South Campus, New Delhi, India. She is the Principal investigator and Co-ordinator of the Centre of excellence on Genomes Sciences and Predictive Medicine funded by the Govt. of India. She is also the Co-ordinator of a major project on newborn screening for inborn errors of metabolism in Delhi state which aims to demonstrate the feasibility of mandatory screening of newborns in the country and to generate epidemiological data for the testable IEMs in the genetically distinct Indian population, for the first time.
Judith Ann Clements is an Australian academic and educator, specializing in Kallikrein proteases in prostate and ovarian cancers. Clements is the scientific director at the Australian Prostate Cancer Research Centre – Queensland and was head of the Cancer Research Program at the Institute of Health and Biomedical Innovation (IHBI) of Queensland University of Technology at the Translational Research Institute (Australia) from 1997–2014.
Kathryn Nance North is a paediatric physician, neurologist, and clinical geneticist. In 2013, she was appointed Director of the Murdoch Childrens Research Institute and was named the David Danks Professor of Child Health Research at the University of Melbourne. In 2012, North was appointed chair of the National Health and Medical Research Council Research Committee. In 2014, she was appointed vice chair of the Global Alliance for Genomics and Health (GA4GH) and co-chair of its Clinical Working Group.
J. William Harbour is an American ophthalmologist, ocular oncologist and cancer researcher. He is Chair of the Department of Ophthalmology at the University of Texas Southwestern Medical Center in Dallas. He previously served as the vice chair and director of ocular oncology at the Bascom Palmer Eye Institute and associate director for basic science at the Sylvester Comprehensive Cancer Center of the University of Miami's Miller School of Medicine.
Adele Chandler Green is an Australian epidemiological senior scientist at the QIMR Berghofer Medical Research Institute in Brisbane and is the institute's Head of Cancer and Population Studies Group.
Christopher Barner-Kowollik FAA, FQA, FRSC, FRACI is an Australian Research Council (ARC) Laureate Fellow, the Senior Deputy Vice-Chancellor and Vice-President (Research) of the Queensland University of Technology (QUT) and Distinguished Professor within the School of Chemistry and Physics at the Queensland University of Technology (QUT) in Brisbane. He is the Editor-in-Chief of the Royal Society of Chemistry (RSC) journal Polymer Chemistry, a principal investigator within the Soft Matter Materials Laboratory at QUT and associate research group leader at the Karlsruhe Institute of Technology (KIT).
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.
Sarah Coupland is an Australian-born pathologist and professor who is the George Holt Chair in Pathology at the University of Liverpool. Coupland is an active clinical scientist whose research focuses on the molecular genetics of cancers, with particular interests in uveal melanoma, conjunctival melanoma, intraocular and ocular adnexal lymphomas and CNS lymphoma. Coupland is also an NHS Honorary Consultant Histopathologist at the Royal Liverpool University Hospital. Since 2006, Coupland has been head of the Liverpool Ocular Oncology Research Group; from which she runs a multidisciplinary oncology research group focussing on Uveal melanoma, based in the Department of Molecular and Clinical Cancer Medicine at the University of Liverpool. Her research laboratory is currently located in the Institute of Translational Medicine From April 2014 to December 2019, Coupland was also Director of the North West Cancer Research Centre, @UoL. In both 2019 and 2020, Coupland was included on the 'Pathology Powerlist' on The Pathologist website.
Sister Regis Mary Dunne RSM was an Australian scientist and Sister of Mercy, considered to be a pioneer in the field of genetics and bioethics.
The Human Genetics Society of Australasia (HGSA) is a membership organization for individuals in the field of human genetics who primarily practise in the Oceania region. Members typically hold both a qualification in human genetics and work in the field. Membership is drawn from clinical, laboratory and academic specialties. Members include clinical geneticists; genetic counsellors; laboratory scientists ; and academics.
Grant Robert Sutherland is a retired Australian human geneticist and celebrated cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.
Michael Terrence Gabbett is an Australian clinical geneticist and academic. He holds academic titles at a number of universities in South East Queensland. Gabbett is known for contributing to discovering the genetic basis of semi-identical (sesquizygotic) twins and defining the clinical features and molecular cause of Temple-Baraitser syndrome.
Elena Jane Tucker is an Australian geneticist and medical genomics researcher and a 2016 Rising Talent in the L'Oréal-UNESCO For Women in Science Awards.
Merlin G. Butler is an American physician scientist and professor at the University of Kansas Medical Center's Departments of Psychiatry & Behavioral Sciences and Pediatrics. He is board-certified in Clinical Genetics and Clinical Cytogenetics and was inducted into the American College of Medical Genetics and Genomics in 1993 as a founding fellow. He has over 500 publications in peer-reviewed journals, numerous book chapters.
Cori Anne Stewart is an associate professor and Australian innovator, CEO of Advanced Robotics for Manufacturing Hub, an Artificial Intelligence and robotics company and a 2023–2024 Superstar of STEM, an initiative within Science and Technology Australia.
References
- ↑ Migraine Australia. "Migraine Genetics Distinguished Professor Lyn Griffiths". Migraine Australia. Retrieved 20 April 2022.
- ↑ QUT. "Distinguished Professor Lyn Griffiths". Academic Profile. Queensland University of Technology. Retrieved 20 April 2022.
- ↑ QUT. "Distinguished Professor Lyn Griffiths". Genomics research Centre.
- ↑ Genomics Research Centre. "Lyn Griffiths". QUT.
- ↑ Research Gate. "Lyn Griffiths". Research Gate.
- ↑ Scholar. "Griffiths LR" . Retrieved 20 April 2022.
- ↑ HGSA. "Board of Censors". Human Genetics Society of Australasia.
- ↑ Queensland Division. "2017 Annual Report" (PDF). National Heart Foundation.
- ↑ Molecular and Cellular Probes. "Most Downloaded Articles". Elsevier.
- ↑ HGSA. "HGSA Orations and Sutherland Lectures". Human Genetics Society of Australasia.
- ↑ "Australia Day 2023 Honours: Full list". The Sydney Morning Herald. 25 January 2023. Retrieved 25 January 2023.
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