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Imprinting Disorders - finding out why 

Call for research cases

Wessex Imprinting Group, Human Genetics Division, University of Southampton and Wessex Genetics Service; Salisbury and Southampton

Imprinting Disorders - finding out why Call for research cases The [Wessex Imprinting Group] is 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, Academic Unit of Human Development and Health Academic Unit of Genetic Medicine, Princess Anne Hospital, Coxford Road Southampton,
SO16 5YA.
ikt@soton.ac.uk
tel 02381 206166.

Dr Deborah Mackay

Reader in Human Genetics, Wessex Imprinting Group, Academic Unit of Human Development and Health.
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 [HERE] to access the study website.

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

 

 


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Last modified date: 20/12/2014 19:57