The Irish kidney gene project - identification and characterisation of novel genetic causes of familial kidney disease

Certain kidney diseases tend to run in families, suggesting that particular genes are inherited from one generation to the next, causing kidney disease. By undertaking a joint training programme between with Trinity College Dublin and Harvard Medical School Boston, I plan to study these families and seek to identify specific genes that cause kidney disease.The identification of genes that cause kidney disease has a number of potential benefits. In the short term, the diagnosis of kidney disease in a family member could be made by way of a simple blood test, reducing the need for invasive tests such as a kidney biopsy. In the long term, it will help us understand why kidney disease occurs in these families and pave the way for developing treatments that may benefit other family members. I have already discovered that up to a third of patients with kidney disease in Ireland have another family member who may be affected. By reviewing the medical records of these patients, I established which kidney diseases tend to runin families. By meeting with families, I have been able to gather detailed information on how kidney disease affects various members of the family and who exactly is affected. By undertaking a further training programme at the Renal Genetic Laboratory Harvard, I plan to look at the genetic makeup of these individuals to see if certain genes are causing their kidney disease. This will help create a picture of how certain types of familial kidney disease behave. Ultimately this research will provide information to both doctors and policy makers on how best to diagnose and treat families who suffer from kidney disease.

Award Date

26 May 2016

Award Value

€256416

Principal Investigator

Professor Dervla Connaughton

Host Institution

Trinity College Dublin

Scheme

Research Training Fellowships for Healthcare Professionals