Call for research cases
Wessex Imprinting Group, Human Genetics Division, University of Southampton and Wessex Genetics Service; Salisbury and Southampton
We are conducting a pilot research project to determine the impact of widespread imprinting aberrations in human disorders. We are recruiting patients with possible or definite imprinting disorders (due to methylation loss or gain at an imprinted loci)
including Silver Russell syndrome, Transient Neonatal diabetes, Beckwith Wiedemann syndrome, Angelman syndrome Prader Willi syndrome, UPD 14 syndromes and Pseudohypoparathyroidism.
Call us or email to recruit patients. Study patients will have epigenetic testing at multiple imprinted loci to determine if this is contributing to the phenotype. This project has been reviewed at the Southampton and South West Hampshire Research Ethics Committee A. The ethics approval number is 07/H0502/85
Principal investigators
|
Dr Karen Temple
Prof of Medical Genetics
and Honorary Consultant in Clinical Genetics
Wessex Imprinting Group
Division of Human Genetics
Academic Unit of Genetic Medicine
Princess Anne Hospital
Coxford Road
Southampton
SO16 5YA
ikt@soton.ac.uk
tel 02380 796625 |
Dr Deborah Mackay
Lecturer in Human Genetics
Wessex Imprinting Group
Division of Human Genetics
Wessex Regional Genetics Laboratory
Salisbury Health Care Trust
Salisbury
SP2 8BJ
djgm@soton.ac.uk
tel 01722 336262 ext 2048 |
For clinicians wishing to refer patients, click on the relevant link below to download patient information sheets and consent forms.
IDFOW assent form for children
IDFOW clinical questionnaire
IDFOW consent for adult participants
IDFOW consent for patients and guardians
IDFOW information - patients with imprinting disorders
IDFOW information - patients with no established diagnosis