We have known for a long time that kidney disease runs in families. In fact, over a third of people in Ireland who develop kidney disease have at least one other family member affected by kidney disease. Diseases like polycystic kidney disease, which causes cysts on the kidney, or Alport’s syndrome, which causes deafness and kidney disease, are well known to occur in families of brothers and sisters, or be passed from parent to child. Though we have always seen the effects of inheritance in kidney disease it is only in the last few years that we have had the tools to comprehensively study and understand the causes of kidney disease at a genetic level.
The Irish Kidney Gene Project (IKGP) was set up in 2014 by Professor Peter Conlon at Beaumont Hospital and Prof Cavalleri, an expert gene scientist in the Royal College of Surgeons In Ireland. Prof Conlon has been involved in kidney gene studies for over 25 years, since he started this work while studying abroad in Duke University in the USA, In Duke he helped discover new genes that caused kidney disease. Since his return to Ireland to work as a consultant in Beaumont Hospital in Dublin, he has continued this study of inherited kidney disease. A part of that work has been in founding the IKGP.
The IKGP is a national research study to try and understand what genes cause kidney disease in Ireland. It aims to identify individuals with kidney disease that may be inherited and genetic sequence those people to identify which genes are causing kidney diseases.
The IKGP has created a biobank of DNA samples taken from patients with inherited kidney disease. It acts as a database of those affected by inherited kidney disease in Ireland, gathering clinical information and genetic data. It aims to unravel the causes of genetic kidney disease in Ireland, to help understand what genes are causing disease in the Irish population, to discover new genes in families affected by kidney disease and hopefully offer new diagnostic and treatment avenues, with the aim of improving care for patients with kidney disease all around Ireland.
To date, the IKGP has studied more than 1,800 patients Irish patients whose families have been affected by kidney disease, and have uncovered the underlying genetic causes of kidney disease for nearly half of these patients. The IKGP uses state of the art genomic medicine to test for genes that cause inherited kidney disease and collaborates with world experts in inherited kidney disease across the globe.
As part of the IKGP, we run a renal genetics clinic in Beaumont hospital twice a month. This clinic is for adults with known or suspected inherited kidney disease and helps to tackle the challenges unique to diagnosing and treating inherited kidney disease. We take referrals from all over the country and work with nephrologists throughout the country to help patients obtain a genetic diagnosis and counselling.
Professor Peter Conlon, Consultant Nephrologist, Beaumont Hospital/RCSI
Professor Gianpiero Cavalleri, Associate Professor in Human Genetics and Deputy Head of the School of Postgraduate Studies
Dr Elhussein El Hassan, Beaumont Hospital/RCSI
Dr Omri Teltsh, RCSI
Dr Sahin Sarihan, RCSI
Ms Sophia Heneghan, RCSI
Dr Michelle Clince, Beaumont Hospital
Ms Stephanie McDonnell, Research Nurse/RCSI
Dr Shohdan Osman, RCSI
Dr Katherine Benson, RCSI
Ms Caragh Stapleton, RCSI
Dr Dervla Connaughton, Beaumont Hospital/ Harvard Medical School
Dr Claire Kennedy, Beaumont Hospital
Dr Susan Murray, Beaumont Hospital
Ms Claire Foley, Research Nurse, Beaumont Hospital/ RCSI
For appointments please contact us:
Email: irishkidneygeneproject@beaumont.ie
Beaumont Hospital, Dialysis Therapies Center, Beaumont Road, Dublin 9, Ireland, D09V2N0
ERKNet portal for patients https://www.erknet.org/patients/
ADPKD https://pkdcure.org/
Alport Syndrome https://alportsyndrome.org/
ADTKD-MUC1 https://www.wakehealth.edu/condition/m/mucin-1-kidney-disease
ADTKD-UMOD https://www.wakehealth.edu/condition/u/uromodulin-kidney-disease
Cystinuria https://www.erknet.org/subregistries/eurocys-registry
Cystinuria https://www.cystinuriauk.co.uk/
The IKGP is a research project and it relies on the generosity of those who are willing to donate blood and DNA samples to the biobank for study, as well as their time to answer questions about their family history. The IKGP may also sometimes ask patients whether a parent, sibling or other relative not affected by kidney disease would donate a DNA sample. If the patient and the family member agree, this can help us to decode the affected patient’s DNA and potentially identify the cause of their inherited kidney disease.
One of the big advantages of understanding inherited kidney disease and identifying the genes that cause it is in helping to make a diagnosis. As most people reading this will know, kidney disease is often silent until very late in the disease and there may not be any outward sign of kidney disease until it is very far advanced. In up to 20 per cent of patients the cause of kidney disease is unknown. Genetic testing helps us to identify kidney disease before there are outward signs, and sometimes even before there are signs on blood tests or on imaging. It can be helpful in screening family members, and also in advising patients of the risk of passing on their kidney disease to their children.
Genetic testing can help tell us how a disease is going to behave in the future. For example, there are two major genes that cause polycystic kidney disease. One, PKD1, causes more severe disease, while a second; PKD2 causes much milder disease that may never progress to needing dialysis or kidney transplantation. Similarly, genetic testing can give us information about how a disease is going to behave after kidney transplantation and whether the disease that caused renal failure in the first place can come back.
Genetic testing may also help us in patients who need renal transplantation. Every year, dozens of people in Ireland give the gift of a kidney to a friend or relative. Our priority is to ensure that this process is safe both for the recipient and the donor, and that we avoid causing any harm to the donor. We do a number of tests on the donor to make sure it is safe for them to donate their kidney. If we know the cause of kidney disease in the recipient, we can test for this gene in the donor, particularly if they are a blood relative. This gives an added layer of security when ensuring it is safe to go ahead with a transplant.
The IKGP will continue to work both in Ireland and abroad to better understand kidney disease in Ireland and to improve care for those with kidney disease.
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