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The University of Southampton
Wessex Imprinting GroupInformation for patients

Imprinting disorders finding out why

Genetic Research
Genetic Research

Why are we carrying out this study?

People with medical problems sometimes have a difficulty with the way genes are controlled but we have only recently developed a way of testing for this.
We hope that this method will show changes that cannot be seen using other techniques. This research project may help to explain why some people have been born with medical and developmental problems.


Who could be recruited to the study?

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, Beckwith Wiedemann syndrome, Angelman syndrome Prader Willi syndrome, UPD 14 syndromes and Pseudohypoparathyroidism.


What will happen to me/my child if taking part in this study?

To take part in this study we require a small blood sample (approximately 2 teaspoonful). It is highly likely that blood sample have already been taken and stored from initial tests that were performed for diagnosis. If this is not the case then the sample will usually be taken at a blood unit in the hospital or by your GP.
You will also be invited for a clinic visit in Southampton where a medical history will be taken and a clinical examination to help us understand how these conditions present. Photographs may also be required where possible. This appointment will last about 1 hour.


How will my information be stored?

All examination findings, test results, photographs and persona details will be stored in research notes in Southampton. These will only be accessed by personnel involved in your or your child’s care or if directly involved in the study.
If you would like more information on this study then please contact:

Tessy Thomas
Research Nurse
Wessex Clinical Genetics Service
G level
University Hospital Southampton NHS Foundation Trust
Mailpoint 627
Princess Anne Hospital
Coxford Road
Southampton SO16 5YA


Tel: 023 8120 5319
Fax: 023 8120 4346
Email: tessy.thomas@uhs.nhs.uk

 

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