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 the connection between kidney disease and Tuberous sclerosis (TSC).

Why is this research being done?

Many TSC patients also have kidney problems, but not all. We hope to investigate TSC patient with changes in both the genes TSC2 and PKD1 and how it affects their kidneys and compared the symptoms to patient who have only changes in the gene TSC 1 or 2. 

Who can take part?

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

1) a consecutive mutation 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 kidney and any creatinine measurement. We would therefore request your permission to contact you clinician and GP and look at 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 molecular and cytogenetic analysis is 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 your creatinine measured, we will contact your GP and request that it will be done. This is part of your normal primary care, as per NHS regulation 2013. 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 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 Iris Egner, Institute of Medical Genetics, Cardiff University
Heath Park, Cardiff, CF14 4XN
Tel: +44 (0) 2920687859 or email egneri@cardiff.ac.uk




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