DMD Geneticists
Geneticists can enter genetic variants directly into the registry to reduce transcription errors. The DMD Registry uses software to validate the data against data held about the Dystrophin gene. Please contact Action Duchenne to find out more about the DMD Registry.
We are committed to international standards for recording genetic variations. The variation information follows standards set by the Human Genome Variation Society.
The data that is collected has been designed to:
- Follow international standards for describing Variations.
- Target Variations for treatments (e.g. Stop Codons or Exon Skipping).
- Evaluate treatments of Variations (e.g. DNA before and after variation).
- Identify Possible relationships between phenotype and severity.
Geneticists in the Registry
Dr Steve Abbs
Molecular Genetics (DNA) Laboratory
5th Floor
Guy's Tower
Guy's Hospital
London
SE1 9RT
020 7188 1696Dr Thalia Antoniadi
Bristol Genetics Laboratory
Southmead Hospital
Bristol
BS10 5NB
0117 9505050 ext.2204Dr Emma Ashton
Molecular Genetics Laboratory
5th Floor
Guy's Tower
Guy's Hospital
London
SE1 7EH
02071881696Therese Bradley
Molecular Genetics Labortary
Duncan Guthrie Institute of
Medical Genetics
Yorkhill
Glasgow
G3 8SJ
0141 201 0377 alt(0141 201 0377 )Dr Michael Buckley
Director SEALS Genetics Laboratory
Dept of Haematology & Genetics
Prince of Wales/Sydney Hospitals
Barker Street
Randwick, Sydney
NSW 2031
(61-2) 9382 9164Dr David Cockburn
Yorkshire Regional DNA Lab
DNA Lab Clinical Gentics Unit
Ashley Wing
St James's University Hospital
Leeds
LS9 7TF
01132064642Dr Jackie Cook
Deptartment of Clinical Genetics
Sheffield Childrens Hospital
Western Bank
Sheffield
S10 2TH
01142717025Dr Gareth Cross
Molecular Genetics Department
Centre for Medical Genetics
Nottingham City Hospital
Hucknall Road
Nottingham
NG5 1PB
01159627743Dr Sally Cumming
Kefford House
Maris Lane
Trumpington
Cambridge
CB2 2FF
Dr Ann Curtis
The Northern Genetics Service
Institute of Human Genetics
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
01912 418 600Dr Ann Dalton
Sheffield Molecular Genetics Lab
C Floor Blue Wing
Sheffield Childrens NHS Trust
Western Bank
Sheffield
S10 2TH
01142717003Dr Mark Davis
Neurogenetics Unit/Anatomical Path
Royal Perth Hospital
Wellington Street
Perth
WA 6000
(08) 9224 3136Jayne Duncan
Molecular Genetics Laboratory
Duncan Guthrie Institute
of Medical Genetics
Yorkhill
Glasgow
G3 8SJ
0141 201 0377 alt(0141 201 0713)Dr Rob Elles
Molecular Genetics Lab (Manchester)
St Mary's Hospital
Hathersage Road
Manchester
M13 0JH
0161 276 6122 alt(0161 276 6605)Dr Carl Fratter
Oxford Regional Genetics Centre
Oxford Radcliffe Hospital NHS Trust
The Churchill
Old Road, Headington
Oxford
OX3 7LJ
01865 225594Dr Ian Frayling
Institute of Medical Genetics
University Hospital Wales
Heath Park
Cardiff
CF14 4XW
029 2074 4672 alt(029 2074 2641)Waltraut Friedl
Institut for Human Genetik
Rheinische Friedrich Wilhelm Uni
Wilhelm Strasse 31
53111 Bonn
Ms Eileen Graham
Molecular Genetics Laboratory
Duncan Guthrie
Institute of Medical Genetics
Yorkhill
Glasgow
G3 8SJ
0141-201-0377Dr Georgina Hall
Department of Medical Genetics
St Marys Hospital
Hathersage Road
Manchester
M13 0JH
0161 276 6322 alt(0161 276 6145)Ms Carol Hardy
West Midlands Regional Genetics Lab
Birmingham Women's Hospital
Metchley Park Road
Edgbaston
Birmingham
B15 2TG
01216272710Dr Gunnar Houge
Senter for Medisinsk Genetikk
Haukeland Universitetssykehus
5021 Bergen
(+47) 55 97 54 44 alt((+47) 55 97 54 79)Dr Val Hyland
Molecular Genetics Unit
Royal Brisbane Hospital - QLD
Herston Road
Herston
QLD 4029
(07) 3636 8434Dr Christoffer Jonsrud
Universitetssykehuset
i Nord-Norge HF
Medisinsk genetisk avdeling
Postbok 55
Tromso
9028
0047 77 64 54 10
Geraldine Malone
Regional Molecular Genetics Lab
St Mary's Hospital
Hathersage Road
Manchester
M13 0JH
0161 276 6741Eleni Mavraki
Bristol Genetics Laboratory
Southmead Hospital
Bristol
BS16 6JR
0117 959 2204Dr Fiona McDonald
West Midlands Regional Genetics Lab
Birmingham Women's Hospital
Metchley Park Road
Edgbaston
Birmingham
B15 2TG
01216 272 710Professor Patrick Morrison
N.I. Regional Genetics Laboratory
Belfast City Hospital Trust
97 Lisburn Road
Belfast
BT9 7AB
028 9026 3885Mr Roger Mountford
Liverpool Womens Hospital
Crown Street
Liverpool
L8 7SS
01517024219Dr Gail Norbury
NE Thames Molecular Genetics Lab
L5 Camelia Botnar Laboratories
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH
02079052223Dr Stewart Payne
Kennedy-Galton Centre
Level 8V
Northwick Park & St Mark's NHS Trus
Watford Road
Harrow
HA1 3UJ
020 8869 3168Dr Oliver Quarrell
Sheffield Clinical Genetics Service
Sheffield Children's Hospital
D Floor, Orange Wing
Western Bank
Sheffield
S10 2TH
0114 271 7025Dr Simon Ramsden
Department of Molecular Genetics
First Floor
St Mary's Hospital
Hathersage Road
Manchester
M13 OJH
01612766122Dr David Robinson
Wessex Regional Genetics Laboratory
Salisbury District Hospital
Salisbury
Wiltshire
SP2 8BY
01722429080Frau Dr Ulrike Schara
Universitatsklinik Essen
Sozialpadiatrisches Zentrum
Hufelandstr 55
Essen
45122
Dr Anneke Seller
Oxford Radcliffe Hospitals Trust
DNA Laboratory
The Churchill
Old Road Headington
Oxford
OX3 7LJ
01865 225594Dr Abid Sharif
Molecular Genetics Department
Centre for Medical Genetics
Nottingham City Hospital
Hucknall Road
Nottingham
NG5 1PB
01159 691 169 x57995Julie Sillibourne
Wessex Regional Genetics Lab
Salisbury District Hospital
Odstock Road
Salisbury
Wiltshire
SP2 8BJ
01722429068Dr Susan Stenhouse
Regional Molecular Genetics Lab
Duncan Guthrie
Institute of Medical Genetics
Yorkhill Hospital
Dalnair Road, Glasgow
G3 8SJ
0141 201 0360 alt(0141 201 0377)Dr Peter Taylor
Molecular & Cytogenetics Lab
Prince of Wales Hosp - SEALS
Level 4 Campus Centre
Barker Street
Randwick
NSW 2031
(02) 9382 9169Dr Simon Tobi
Molecular Genetics Lab
St Mary's Hospital
Hathersage Road
Manchester
M13 0JH
0161 276 6122Dr Rebecca Treacy
Molecular Genetics Laboratory
Kefford House
Maris Lane
Trumpington
Cambridge
CB2 2FF
01223 550700Karcagi Veronika
Orszagos Kornyezetegeszsegugyi Inte
(Nat Inst of Environmental Health
Molecular Genetics & Diagnostics
1437 PO Box 839 Gyali ut 2-6
Budapest
0197
+361476 1362Dr Jo Whittaker
Kefford House
Maris Lane
Trumpington
Cambridge
CB2 2FF
01223-550-702 alt(01223-550-700)Mrs Margaret Williams
Department of Molecular Genetics
The Lewis Laboratories
Southmead Hospital
Bristol
BS10 5NB
0117959 6026Dr Michael Wright
The Northern Genetics Service
Institute of Human Genetics
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
01912418600Dr Sui Yu
Dept of Genetic Medicine
Womens & Childrens Hospital
72 King William Road
North Adelaide
SA 5006
+61 8 8161 7139Dr Desiree du Sart
Molecular Genetics Laboratory
Victorian Clinical Genetics Service
Murdoch Inst - Royal Childrens Hosp
Flemington Road
Parkville
VIC 3052
(03) 8341 6275

