Meena Upadhyaya OBE, FRCPath, FLSW is an Indian-born Welsh medical geneticist and a Professor emerita at Cardiff University. Her research has focused on the genes that cause various genetic disorders, in particular neurofibromatosis type I and facioscapulohumeral muscular dystrophy.
Upadhyaya was born in India. She entered an arranged marriage and joined her husband in the United Kingdom. Having studied an honours bachelor's degree in biology at the University of Delhi, [1] she completed a Master of Science at the University of Edinburgh followed by a doctorate at Cardiff University. [2]
Upadhyaya completed a fellowship with the Royal College of Pathologists in 2000, becoming one of the first people to do so in the field of medical genetics. [3] Her research career focused on genetic disorders, especially neurofibromatosis type I and facioscapulohumeral muscular dystrophy. She was involved in identifying the genetic mutations responsible for these two diseases and evaluating whether certain mutation was associated with specific clinical features. She developed molecular tests to aid in the diagnosis of more than 20 genetic diseases including neurofibromatosis type 1. [3] She has also researched the reasons that in some people with neurofibromatosis type I, the benign tumours can become malignant. Using high-throughput techniques, she was able to identify molecular targets which would be important for the treatment of the patients. Over her career, she authored more than 200 scientific articles, wrote 24 book chapters and edited four textbooks and received awards from the Muscular Dystrophy Association (2009), the Inspire Wales Awards (2010), the Theodor Schwann award from the European Neurofibromatosis Group (2013), and the recognition award from Welsh Assembly (2011). [3] She was a professor in Cardiff University's Institute of Cancer Genetics and directed the All Wales Medical Genetics Service Research and Development Laboratory until her retirement in 2014, thereafter serving as an honorary distinguished professor at Cardiff until 2023. [4] In 2016, for her "services to medical genetics and the Welsh Asian Communityy", [4] she was awarded an OBE. She received the St David Award in 2017, under the Innovation, Science and Technology category, for her outstanding contribution to medical genetics. [5] Additionally, she was presented with the Welsh Muslim Council award in 2019 for her contributions to academia, and the Legacy Maker Community Achievement Award (2019) from Race Council Cymru. In 2017, Upadhyaya became the first female British-Indian professor to receive Honorary Fellowship at University of Wales Trinity Saint David. [6] She was later appointed as an Honorary Professor in Practice in 2021. She is listed as one of the 100 Wales's brilliant women by Wales Online. [7] She also made to the list of 100 Welsh Women, [8] created by Women's Equality Network, to mark the centenary of the Representation of the People Act 1918. [9] She was awarded the prestigious fellowship of Learned Society of Wales in 2018. [10] She has been an International Advisor for the Organisation of the Rare Diseases, India (2016) [11] and also sits on the Advisory Board of Genome India international forum, Philadelphia, USA and on the Medical Advisory Board as well as a trustee of Nerve Tumours, UK. Upadhyaya is a co-director of the project titled "70 Years of Struggle and Achievement: Life Stories of Ethnic Minority Women in Wales 2019" which is funded by the Heritage Lottery Fund. She co-edited a book on this project, which was published by Parthians in 2021. Upadhyaya collaborated with the Welsh Government to organise the inaugural Festival of Communities in Cardiff in 2023.
She organised the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics in Kochi, Kerala, India in 2017. [12]
She was elected to be a Council Member of the regional RCPath in 2014 and the Learning Society of Wales in 2020. Upadhyaya also served as a mentor on Dame Rosemary Butler's Women in Public Life Scheme (2014-2015). She is a trustee for Race Equality First, Race Council Cymru, the European NF Association and sits on the Advisory Committee of Cardiff University's BME+ Staff Network, NWAMI, Purple Plaques, Monumental Welsh Women and Equity in STEM. Upadhyaya was appointed as a Non-Executive Director (NED) on the Welsh Government Civil Service Board (2020-2024). She was appointed as an Honorary Professor of Amrita School of Medical Sciences, Kochi, Kerala, India (2020), Visiting Professor at the Institute of Medical Genetics and Genomics at Sir Gangaram Medical Hospital, Delhi in 2023 and an Honorary Executive Director of Chhaya Public School, India in 2020.
Upadhyaya is also an advocate for women of ethnic minorities; she is the founder and Chair of Welsh Asian Women Achievement Awards, now Ethnic Minority Welsh Women Achievement Association (EMWWAA) and the organisation Ethnic Minority Women in Welsh Healthcare (EMWWH). She sits on many committees focusing on equality, diversity and academia.
Janet Davison Rowley was an American human geneticist and the first scientist to identify a chromosomal translocation as the cause of leukemia and other cancers, thus proving that cancer is a genetic disease. Rowley spent the majority of her life working in Chicago and received many awards and honors throughout her life, recognizing her achievements and contributions in the area of genetics.
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared, and muscles of other areas usually are affected, especially those of the chest, abdomen, spine, and shin. Almost any skeletal muscle can be affected in advanced disease. Abnormally positioned, termed 'winged', scapulas are common, as is the inability to lift the foot, known as foot drop. The two sides of the body are often affected unequally. Weakness typically manifests at ages 15 – 30 years. FSHD can also cause hearing loss and blood vessel abnormalities at the back of the eye.
Judith Goslin Hall is a pediatrician, clinical geneticist and dysmorphologist who is a dual citizen of the United States and Canada.
Mayana Zatz is a Brazilian molecular biologist and geneticist. She is a professor at the University of São Paulo, is its Research dean.
Mary-Claire King is an American geneticist. She was the first to show that breast cancer can be inherited due to mutations in the gene she called BRCA1. She studies human genetics and is particularly interested in genetic heterogeneity and complex traits. She studies the interaction of genetics and environmental influences and their effects on human conditions such as breast and ovarian cancer, inherited deafness, schizophrenia, HIV, systemic lupus erythematosus and rheumatoid arthritis. She has been the American Cancer Society Professor of the Department of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington since 1995.
Dame Kay Elizabeth Davies is a British geneticist. She is Dr Lee's Professor of Anatomy at the University of Oxford and a Fellow of Hertford College, Oxford. She is director of the Medical Research Council (MRC) functional genetics unit, a governor of the Wellcome Trust, a director of the Oxford Centre for Gene Function, and a patron and Senior Member of Oxford University Scientific Society. Her research group has an international reputation for work on Duchenne muscular dystrophy (DMD). In the 1980s, she developed a test which allowed for the screening of foetuses whose mothers have a high risk of carrying DMD.
Noreen Elizabeth, Lady Murray was an English molecular geneticist who helped pioneer recombinant DNA technology by creating a series of bacteriophage lambda vectors into which genes could be inserted and expressed in order to examine their function. During her career she was recognised internationally as a pioneer and one of Britain's most distinguished and highly respected molecular geneticists. Until her 2001 retirement she held a personal chair in molecular genetics at the University of Edinburgh. She was president of the Genetical Society, vice president of the Royal Society, and a member of the UK Science and Technology Honours Committee.
Jan Gunnar Faye Mohr was a Norwegian-Danish physician and geneticist, known for his discovery of the first cases of autosomal genetic linkage in man, between the Lutheran blood groups and the ABH-secretor system, and between these and the hereditary disease myotonic dystrophy. Besides being first steps in mapping the human genome, the findings illustrated the medical potential of linkage analysis in prenatal genetic diagnosis. Mohr is eponymously known by the syndrome Mohr-Tranebjærg, a progressive deafness with X-linked mode of inheritance, which was first described by Jan Mohr, and then more comprehensively by Tranebjærg et al. The 'Mohr syndrome', or oral-facial-digital syndrome type II, is named after Otto Lous Mohr, uncle of Jan Mohr.
Sir Eldryd Hugh Owen Parry was a British academic, physician and founder of the Tropical Health and Education Trust, which helps low- and middle-income country medical schools and hospitals to improve staff skill levels.
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.
Sir Michael John Owen FRCPsych FMedSci FLSW is a Welsh research scientist in the area of psychiatry, currently the head of the Division of Psychological Medicine and Clinical Neurosciences at Cardiff University.
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.
John M. Opitz was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College and American Board of Medical Genetics.
Jessica Leigh Jones is a Welsh engineer and astrophysicist from Cardiff. She is credited with becoming the first female to win the UK Young Engineer of the Year Award in 2012 for her work designing a portable uterine contraction monitor which cut manufacturing costs by 99%. She was later rewarded for her efforts to commercialise the technology, receiving the Institution of Engineering and Technology (IET) Intel Inspiration Award for Entrepreneurship in the same year.
Haley Gomez MBE, FRAS, FLSW is a Welsh Professor of Astrophysics at Cardiff University. She studies the formation and evolution of cosmic dust using the Herschel Space Observatory. She is Deputy Head of the School of Physics and Astronomy. She was awarded an Order of the British Empire in the 2018 Queen’s Birthday Honour’s.
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.
Judith Elizabeth HallFLSW is Professor of Anaesthetics, Intensive Care and Pain Medicine at Cardiff University. She leads the Phoenix Project, a Cardiff University partnership with the University of Namibia that seeks to reduce poverty, promote health and support sustainable environmental development.
Uzoamaka Linda Iwobi FLSW is a British-Nigerian solicitor and equalities practitioner. She is the former Specialist Policy Adviser on Equalities to the Welsh Government, an Honorary Fellow at the University of Wales Trinity St David and founder, secretary and former chief executive officer at Race Council Cymru. She is also Vice President of the Royal Welsh College of Music & Drama.
Farah Bhatti FRCS FLSW is a British cardiac surgeon who is an honorary professor at the Swansea University Medical School. She serves as Chair of the Royal College of Surgeons of England Women in Surgery Forum. She was appointed an Order of the British Empire in 2020 for services to diversity in the National Health Service in Wales.
Phyllis Jean McAlpine was a Canadian geneticist. She was a pioneer in mapping the human genome and served as Chair of the HUGO Gene Nomenclature Committee.
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