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
Human Genetics and Genomic Medicine
Academic Unit of Genetic Medicine
Princess Anne Hospital
Coxford Road
Southampton
SO16 5YA
ikt@soton.ac.uk
tel 023 8120 6170
Dr Deborah Mackay
Reader 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 please contact Audrey Torokwa at the Wessex Clinical Genetic Service in Southampton via email: Audrey.Torokwa@uhs.nhs.uk