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.