Meena Upadhyaya OBE, FRCPath, FLSW is an Indian-born Welsh medical geneticist and an honorary distinguished professor 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, an engineer, to 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 to evaluate 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 will be important for the treatment of the patients. Over her career, she authored more than 200 scientific articles and four textbooks and received awards from the Muscular Dystrophy Association (2009), the Inspire Wales Awards (2010), 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. [4] She received an OBE in 2016 for "services to medical genetics and the Welsh Asian community". [4] She received St David Award in 2017 in Innovation, Science and Technology category for her outstanding contribution to medical genetics. [5] She also received the Welsh Muslim Council award (2019) for her contributions to academia and Legacy Maker Community Achievement Award (2019) from Race Council Cymru. Upadhyaya became UK's first female British-Indian professor to receive Honorary Fellowship at University of Wales Trinity Saint David in 2017. [6] She is listed as one of the 100 Wales's brilliant women by WalesOnline. [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 Genoma 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 entitled: 70 years of struggle and achievement: Life Stories of Ethnic Minority Women in Wales 2019 (funded by the Heritage Lottery Fund).
She organised 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 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, and Monumental Welsh Women. Upadhyaya has been appointed as a Non-Executive Director (NED) on the Welsh Government Civil Service Board (2020). She was appointed as an Honorary Professor of Amrita School of Medical Sciences, Kochi, Kerala, India (2020) and an Honorary Executive Director of Chhaya Public School, India.
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, spine, abdomen, and shin. Almost any skeletal muscle can be affected in severe disease. Abnormally positioned, or 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 in the back of the eye.
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.
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.
Raj Kumar Aggarwal is a Welsh-Indian pharmacist, public health expert, businessman and the first ever Honorary Consul for India with jurisdiction for Wales. In this role, he is responsible for helping to further links between Welsh and Indian business, educational establishments and cultural organisations, as well as looking after the needs of Indian nationals living and working in Wales. In March 2015, he was appointed president of the Consular Association of Wales.
Rosalie Ferner is Professor of Neurology at Guys and St Thomas's Hospital and the Department of Clinical Neuroscience at King's College London. Ferner is chairperson for the medical advisory board of the national Neuro Foundation. She has is national lead for the nationally commissioned NF1 service since and lead for the London NF2 service.
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.
Tjitske Nienke"Cisca"Wijmenga is a Dutch professor of Human Genetics at the University of Groningen and the University Medical Center Groningen. She has been Rector Magnificus of the University since September 2019.
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 is 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.
James Francis Gusella is a Canadian molecular biologist and geneticist, also known as "Lucky Jim". He is professor of neurogenetics and director of the Center for Neurofibromatosis and Allied Disorders at Harvard Medical School, and director of the Center for Human Genetic Research at Massachusetts General Hospital.
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.
Toshifumi (Toshi) Yokota is a medical scientist and professor of medical genetics at the University of Alberta, where he also holds the titles of the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair and the Henri M. Toupin Chair in Neurological Science. He is best known for his studies of antisense oligonucleotide-based therapeutics for muscular dystrophy that led to the development of an FDA-approved drug viltolarsen. His research interests include precision medicine for muscular dystrophy and genetic diseases. He has co-edited two books both published in the Methods in Molecular Biology series from Humana Press, Springer-Nature, and has published more than 100 refereed papers and patents. He is a member of the editorial boards for the International Journal of Molecular Sciences, Genes, Frontiers in Genome Editing, Frontiers in Physiology, and Nucleic Acid Therapeutics, a member of the Medical and Scientific Advisory Committee of Muscular Dystrophy Canada, and a co-founder of the Canadian Neuromuscular Network (CAN-NMD).
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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