Sue Povey MD FMedSci
Professor Emeritus of Human Genetics
The HUGO Genome Nomenclature Committee
s.povey@ucl.ac.uk
tel: (+44)-(0)20-7679-7410
fax: (+44)-(0)20-7679-5052
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 Jan 2010 there are a
total of 3779 entries, with 418 different changes recorded in TSC1 and 1149 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 have led me to chair a working group to produce Guidelines for
dealing with ethical issues relating to Locus –specific genetic variation databases .An early
version of these can be seen in the supplementary material to Kaput et al 2009 and a definitive
version is about to be submitted .
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
Haldane Professor of Human Genetics, UCL, 2000-2007
I am no longer doing wet-lab research and my current work on the TSC1 and TSC2 databases
is supported by the TS Alliance
Recent References relating to Tuberous sclerosis or Locus-specific variation databases in
general
1: Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, Ekong R, Povey S, den
Dunnen JT, van den Ouweland A, Halley D, Nellist M. Identification of a region required for
TSC1 stability by functional analysis of TSC1 missense
mutations found in individuals with tuberous sclerosis complex. BMC Med Genet. 2009 Sep
11;10:88.
2: Kaput J, Cotton RG, Hardman L,Watson M and many others including Ekong R and Povey
S
Project Planning Meeting. Planning the human variome project: the Spain report.
Hum Mutat. 2009 Apr;30(4):496-510.
3: den Dunnen JT, Sijmons RH, Andersen PS, Vihinen M, Beckmann JS, Rossetti S,
Talbot CC Jr, Hardison RC, Povey S, Cotton RG. Sharing data between LSDBs and
central repositories. H m Mutat. 2009 Apr;30(4):493-5. .
4: Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF,
Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P,
Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma
IC, Vihinen M, den Dunnen JT. Recommendations for locus-specific databases and
their curation. Hum Mutat. 2008 Jan;29(1):2-5.
5. Cotton RG, Auerbach AD, AxtonM, Barash CI, Berkovic SF, Brookes AJ, Burn J,
Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M,
Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D,
Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson
M. . The Human Variome Project. Science. 2008 Nov 7;322(5903)J,