Pioneering medical geneticist, Professor Meena Upadhyaya, receives OBE

posted on Tuesday, 12th January 2016   |   Not tagged.
Pioneering medical geneticist, Professor Meena Upadhyaya, receives OBE

The achievements of an internationally renowned medical geneticist have been recognised in the 2016 New Year's Honours list.

For more details on this story please see Cardiff University's announcement.

Amongst her other achievements Meena was responsible for some of the earliest research that made prenatal genetic diagnosis possible, and which is now available for families affected by severe genetic disorders. She also made substantial contributions to identifying the genes for two complex and severe disorders: neurofibromatosis type 1 (NF1) and facioscapulohumeral muscular dystrophy (FSHD), was a pioneer in identifying mutations in genes associated with major diseases, and has developed diagnostic tests for more than 20 important genetic disorders.  Most recently, she has helped to identify a second gene for FSHD and has determined why some tumours in people with NF1 become malignant, thus providing a means to develop specific new therapies.  Her work has enabled innumerable families to cope with or avoid the burden of severe genetic diseases. 

Meena has published over 200 scientific papers and three major textbooks and is in continuous demand to present at national and international meetings. In recognition of her lifetime dedication, pre-eminence and scientific achievements, she was one of the first individuals to be awarded Fellowship of the Royal College of Pathologists in Molecular Genetics (2000), subsequently receiving the Muscular Dystrophy Association award for outstanding achievements in 2009, and in 2013 becoming only the third recipient of the Theodor Schwann Prize from the European Neurofibromatosis Group.  She was winner of the Inspire Wales Award for Science and Technology (2010) and received a Recognition Award from the Welsh Assembly for her contribution to Medical Genetics in 2011.



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