Genes and the kidney in Tuberous Sclerosis

The Institute of Medical Genetics, Cardiff University has set up a research project which hopes to further understanding of kidney disease in patients affected by tuberous sclerosis (TSC).

Why is this research being done?

Many TSC patients also have kidney problems, but the type of problems and the severity is very variable. We are investigating TSC patients with changes affecting the TSC1 and TSC2 genes and the PKD1 gene that is located immediately adjacent to TSC2 to see how the genes involved affects kidney complications.

Who can take part?

You can take part if you have TSC and have been diagnosed with 

1) a deletion of TSC2 and PKD1, 
2) a mutation in TSC2 alone or 
3) a mutation in TSC1 alone. 

What will it involve?

For this study we will need to look at clinical (hospital) notes, especially regarding your kidneys and kidney tests (e.g. blood tests and scans) if you have had these undertaken in the past. We would therefore request your permission to contact your hospital doctors and GP and for these details from your medical notes and to include this information in our study. We will also send you a short health questionnaire via post. If you agree to take part, we may also ask for a blood sample from you if your genetic tests for tuberous sclerosis are incomplete. 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. If you have not had  a recent blood test for kidney function (creatinine) we will contact your GP and request that it will be done. This is part of normal recommendedhealth care for people with tuberous sclerosis. You will only be required to be actively involved in this study during the period of giving consent and completing the health questionnaire (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 back to the researchers. You will not need to travel to Cardiff to take part in the study. 

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

Dr Iris Egner, Institute of Medical Genetics, Cardiff University
Heath Park, Cardiff, CF14 4XN
Tel: +44 (0) 2920687859 or email

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