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Current projects 

Imprinting Disorders - Finding Out Why  (IDFOW)

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 imprinted loci) including Silver-Russell syndrome, Transient Neonatal Diabetes Mellitus, Beckwith-Wiedemann syndrome, Angelman syndrome, Prader-Willi syndrome, UPD14 syndromes and Pseudohypoparathyroidism. Study patients will have epigenetic testing at multiple imprinted loci to determine if this is contributing to the phenotype.

Please call or e-mail us to recruit patients. 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:

Prof. Karen Temple
Professor of Medical Genetics and Honorary Consultant in Clinical Genetics,
Wessex Imprinting Group, Academic Unit of Human Development and Health
Princess Anne Hospital,
Coxford Road,
Southampton,
Hants,
SO16 5YA
Email ikt@soton.ac.uk
Tel. 02381 206166

Prof. Deborah Mackay
Professor of Medical Epigenetics,
Wessex Imprinting Group, Academic Unit of Human Development and Health,
Wessex Regional Genetics Laboratory,
Salisbury NHS Foundation Trust,
Salisbury,
Wilts.
SP2 8BJ
Email djgm@soton.ac.uk
Tel. 01722 336262 - Ext. 2048

Links

IDFOW study website for clinicians wishing to refer patients

IDFOW assent form for children

IDFOW clinical questionnaire

IDFOW consent form for adult participants

IDFOW consent form for parents and guardians

IDFOW information - patients with imprinting disorders

IDFOW information - patients with no established diagnosis

 

Page Last Updated: 29/11/2016 13:54 
Printed from Salisbury NHS Foundation Website http://www.salisbury.nhs.uk