Sue Povey MD Professor Emeritus of Human Genetics s.povey@ucl.ac.uk tel: (+44)-(0)20-7679-2174 During most of my research career I was involved in the identification of human genes and in building genetic maps for the human genome. In the ten years between 1997 and my retirement in 2007 my main contribution to the Human Genome Project was an attempt to make the human genome data more user-friendly. Our group was charged with coordinating the whole scientific community to agree on a single unique name and abbreviation (‘symbol’) for each human gene, and also to use the same name for orthologous genes in other mammalian species. The evidence for this work can now be seen in the use of standard names and symbols for human genes in almost all databases and most publications. The baton has passed on to Dr Elspeth Bruford, formerly in our group at UCl, who has taken the work and some of the workers to the EBI at the Wellcome Trust Genome campus near Cambridge. Check the right name for your favourite gene at http://www.genenames.org/ You may not like it but it will be unique! My longterm major interest has been the disease Tuberous Sclerosis, which affects about one in 10,000 people. It is very variable in severity and can be associated with severe learning disability, epilepsy, brain and renal tumours and many other problems. It is an exciting time both for researchers and the families affected by this disease as the identification of the two genes responsible TSC1 and TSC2 has led directly to promising clinical trials of therapy. My most active current work on Tuberous sclerosis is the curation, with Dr Rosemary Ekong, of the TSC1 and TSC2 variation databases which record all known cases of variation in these genes together with whether these changes are thought to cause the disease. In October 2014 there are a total of 5726 entries, with 683 different changes recorded in TSC1 and 1897 in TSC2.The databases can be seen at http://www.LOVD.nl/TSC1 and http://www.LOVD.nl/TSC2 They are already widely used by diagnostic laboratories many of which have also generated large amounts of valuable data in the course of their genetic testing. The ethical problems involved in the sharing of such data led me to chair a working group to produce Guidelines for dealing with ethical issues relating to Locus –specific genetic variation databases (.Povey et al Hum Mutat. 2010) I am no longer doing wet-lab research and our current work on the TSC1 and TSC2 databases is supported by the Tuberous Sclerosis Association UK and the TSAlliance USA Academic Career BA in Natural Sciences (Genetics) Cambridge 1964 MB BChir Cambridge 1967 DTM and H Liverpool 1968 MD Cambridge 1977 House officer in Paediatrics, UCH, 1967 House officer in Surgery, Huddersfield, 1968 Medical Officer to Save the Children Fund, Algeria, 1968-1969 Research Scientist, MRC Unit of Human Biochemical Genetics, UCL, 1970-2000 FMedSci 2000 Haldane Professor of Human Genetics, UCL, 2000-2007 Recent References relating to Tuberous sclerosis or Locus-specific variation databases in general 1: Savige J, Dagher H, Povey S. Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available? Hum Mutat. 2014 Jul;35(7):791-3. 2: Northrup H, Krueger DA ; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.(many co-authors) 3: Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hum Mutat. 2013 Jan;34(1):167-75. 4: Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat. 2012 Mar;33(3):476-9. 5: Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat. 2011 Apr;32(4):424-35. 6: Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Béroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Möslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RG; Human Variome Project Meeting. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat. 2010 Dec;31(12):1374-81. 7: Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG; Ethics Committee of the Human Genome Organization (HUGO). Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat. 2010 Nov;31(11):1179-84.