Study describes the diversity of genetic changes that cause inherited kidney disease

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A study has described genetic changes in patients with the most common form of hereditary kidney disease that affects an estimated 12.5 million people worldwide. The research, which focussed on Polycystic Kidney Disease (PKD) in Ireland, provides insights into PKD that will assist doctors and patients in the management of this of inherited condition.

The study, led by researchers from the RCSI University of Medicine and Health Sciences, is published in the European Journal of Human Genetics.

In the research, a cohort of 169 patients with PKD in Ireland were analysed. The genetic changes were identified in up to 83% of cases. It is the first time that the diversity of genetic causes of PKD in Ireland have been described. The results will better assist doctors in identifying patients who may require transplantation or dialysis. The findings also have important implications for people who have a family history of PKD and are planning a family or considering kidney donation.

“This study is hugely important in providing us with an insight into the genetic landscape of Polycystic Kidney Disease, the most common form of inherited kidney disease in the world,” said first author on the study Dr Katherine Benson, School of Pharmacy and Biomolecular Sciences, RCSI.

“Our findings have implications for the prognosis of patients by helping us to further identify why the disease may progress more rapidly in some cases and how we can reduce the burden of inherited kidney disease in future.”

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The study was carried out by a team of researchers and clinician scientists under the supervision of senior authors Prof. Gianpiero Cavalleri, Professor of Human Genetics at RCSI and Prof. Peter Conlon, Associate Professor of Medicine at RCSI and Consultant Nephrologist at Beaumont Hospital.

The study was supported by an Enterprise Partnership Scheme Fellowship Award from The Irish Research Council, in conjunction with Punchestown Kidney Research Fund. The research was also funded by the Beaumont Hospital Foundation and the Royal Irish Academy.

About RCSI University of Medicine and Health Sciences

Ranked number one globally for Good Health and Well-being in the Times Higher Education (THE) University Impact Rankings 2020, RCSI University of Medicine and Health Sciences is an international not-for-profit university, with its headquarters in Dublin.

RCSI is exclusively focused on education and research to drive improvements in human health worldwide. It is among the top 250 universities worldwide in the World University Rankings (2020) and its research is ranked first in Ireland for citations. RCSI has been awarded Athena Swan Bronze accreditation for positive gender practice in higher education.

Visit the RCSI MyHealth Expert Directory to find the details of our experts across a range of healthcare issues and concerns. Recognising their responsibility to share their knowledge and discoveries to empower people with information that leads them to better health, these clinicians and researchers are willing to engage with the media in their area of expertise.

Media Contact
Jane Butler
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http://dx.doi.org/10.1038/s41431-020-00806-5

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