Meena Upadhyaya
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Meena Upadhyaya is an Indian-born Welsh medical geneticist and a Professor emerita at
Cardiff University Cardiff University () is a public research university in Cardiff, Wales. It was established in 1883 as the University College of South Wales and Monmouthshire and became a founding college of the University of Wales in 1893. It was renamed Unive ...
. Her research has focused on the genes that cause various genetic disorders, in particular
neurofibromatosis type I Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system neurocutaneous disorder caused by a subset of genetic mutations at the neurofibromin 1 (''NF1'') locus. Other conditions associated with mutation of the ...
and
facioscapulohumeral muscular dystrophy 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 fac ...
.


Biography

Upadhyaya was born in India. She entered an
arranged marriage Arranged marriage is a type of Marriage, marital union where the bride and groom are primarily selected by individuals other than the couple themselves, particularly by family members such as the parents. In some cultures, a professional matchmaki ...
and joined her husband in the United Kingdom. Having studied an honours bachelor's degree in biology at the
University of Delhi The Delhi University (DU, ISO 15919, ISO: ), also and officially known as the University of Delhi, is a collegiate university, collegiate research university, research Central university (India), central university located in Delhi, India. It ...
, she completed a
Master of Science A Master of Science (; abbreviated MS, M.S., MSc, M.Sc., SM, S.M., ScM or Sc.M.) is a master's degree. In contrast to the Master of Arts degree, the Master of Science degree is typically granted for studies in sciences, engineering and medici ...
at the
University of Edinburgh The University of Edinburgh (, ; abbreviated as ''Edin.'' in Post-nominal letters, post-nominals) is a Public university, public research university based in Edinburgh, Scotland. Founded by the City of Edinburgh Council, town council under th ...
followed by a doctorate at
Cardiff University Cardiff University () is a public research university in Cardiff, Wales. It was established in 1883 as the University College of South Wales and Monmouthshire and became a founding college of the University of Wales in 1893. It was renamed Unive ...
. Upadhyaya completed a fellowship with the
Royal College of Pathologists The Royal College of Pathologists (RCPath) is a professional membership organisation. Its main function is the overseeing of postgraduate training, and its Fellowship Examination (FRCPath) is recognised as the standard assessment of fitness to p ...
in 2000, becoming one of the first people to do so in the field of
medical genetics 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 me ...
. Her research career focused on
genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...
s, especially
neurofibromatosis type I Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system neurocutaneous disorder caused by a subset of genetic mutations at the neurofibromin 1 (''NF1'') locus. Other conditions associated with mutation of the ...
and
facioscapulohumeral muscular dystrophy 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 fac ...
. 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. 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 The Senedd ( ; ), officially known as the Welsh Parliament in English and () in Welsh, is the devolved, unicameral legislature of Wales. A democratically elected body, Its role is to scrutinise the Welsh Government and legislate on devolve ...
(2011). 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. In 2016, for her "services to medical genetics and the Welsh Asian Communityy", she was awarded an
OBE The Most Excellent Order of the British Empire is a British order of chivalry, rewarding valuable service in a wide range of useful activities. It comprises five classes of awards across both civil and military divisions, the most senior two o ...
. She received the St David Award in 2017, under the Innovation, Science and Technology category, for her outstanding contribution to medical genetics. 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. 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. She also made to the list of 100 Welsh Women, created by Women's Equality Network, to mark the centenary of the Representation of the People Act 1918. She was awarded the prestigious fellowship of Learned Society of Wales in 2018. She has been an International Advisor for the Organisation of the Rare Diseases, India (2016) 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. 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, no
Ethnic Minority Welsh Women Achievement Association
(EMWWAA) and the organisatio
Ethnic Minority Women in Welsh Healthcare
(EMWWH). She sits on many committees focusing on equality, diversity and academia. She has one daughter, Dr Rachna Upadhya MBBCh.MRCGP. MBA who has had a senior career in Medicine and Investment Banking. Rachna also continues to work in finance in combination with several international Board roles.


References

{{DEFAULTSORT:Upadhyaya, Meena Indian geneticists Welsh geneticists British women geneticists British geneticists Academics of Cardiff University Alumni of Cardiff University Delhi University alumni Alumni of the University of Edinburgh Indian emigrants to the United Kingdom Officers of the Order of the British Empire Indian emigrants to Wales Fellows of the Royal College of Pathologists Fellows of the Learned Society of Wales Year of birth missing (living people) Living people 20th-century Indian women scientists Indian women biologists 20th-century Indian biologists Naturalised citizens of the United Kingdom