Genetic Causes of Tuberous Sclerosis

Genetic Causes of Tuberous Sclerosis

The Institute of Medical Genetics, Cardiff University has set up a research project which hopes to further understanding of the genetic causes of Tuberous Sclerosis (TSC).

Why is this research being done?

This project is using 'next generation' technologies which are not currently used in diagnostic testing for TSC. We hope to identify mutations in TSC1 and TSC2 that have escaped detection by current testing methods. We are also searching for new genes which may cause the symptoms of TSC.

Who can take part?

We would like to recruit individuals with TSC who have undergone diagnostic testing and have not had a genetic mutation found in either of the genes which are known to cause TSC (TSC1 or TSC2).We would like to hear from anyone with TSC and no known genetic mutation who is interested in participating in this study. Where possible, we are also very keen to involve parents who are unaffected themselves, but who have a son or daughter with TSC for which a genetic cause cannot be found. By involving unaffected parents in this study we will be able to compare the genes of related family members to help to find a genetic cause for TSC.

What will it involve?

For this study we will need to look at clinical (hospital) notes and we will require DNA samples from all participants. We would therefore request your permission to look at your medical notes and include this information in our study. If you agree to take part, we may also ask for a blood sample from you if needed. This is a small procedure which can be carried out by your GP surgery or hospital and would only be required if we do not have enough stored DNA from your previous genetic analysis. You will only be required to be actively involved in this study during the period of giving consent (approximately 30 minutes) and giving a blood sample if required (approximately 1 hour). Your involvement can be handled at a local level with both consent and blood samples being posted to researchers. You would not need to travel to Cardiff to take part in the study.

Who should I contact to take part/for more information?

Dr Hala Jundi

Institute of Medical Genetics, Cardiff University
Heath Park, Cardiff, CF14 4XN

Tel: (02920) 687859 or

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