Caragh undertook her PhD studies undertaking a large consortium to study GWAS studies in kidney transplant outcome. She also studied a number of inherited kidneys disease including Familial IgA Nephropathy.
Dervla played a major role in establishing IKGP and identified the prevalence of inherited kidney disease in Ireland in her seminal papers. She undertook whole exome sequencing on Irish patients in collaboration with Friedhelm Hildbrandt at Boston Children’s Hospital. She is currently director of renal genetics service in London Ontario Canada.
Claire played a major role in the establishment of the Irish Kidney Gene Project. She recruited the first patient to IKGP and developed a strategy to deeply phenotype these patients. Claire is currently working as a Consultant Nephrologist at St James’ Hospital, Dublin.
Susan undertook a period of research as part of her MD studies identifying the impact of genetics in explaining familial kidney disease in Ireland. She also studied the value of genomics in interpretating kidney biopsy in patients with progressive kidney disease. She has completed her SPR nephrology training and is currently working as a Consultant Nephrologist at Duke University North Carolina USA.
Kane completed his PhD research on the impact of polygenic risk factors on kidney transplant patient outcomes and adult polycystic kidney disease.
Elhussein has completed his PhD dissertation on the phenotype-genotype interaction in autosomal dominant polycystic kidney disease, with a focus on the identification of factors that influence familial variability in disease severity in autosomal dominant polycystic kidney disease.
Sophia recently started her doctoral research on the role of Copy Number Variation (CNV) in the diagnosis of inherited kidney disease, and specifically in autosomal dominant polycystic kidney disease. She is especially interested in determining the effect of somatic variants on phenotype drift in patients with autosomal dominant polycystic kidney disease utilizing single cell sequencing in nephrectomy specimens.
Shohdan’s research is investigating the Polygenic Effects on the Risks of Intracranial Aneurysm among Patients with adult polycystic kidney disease (ADPKD). This study is a collaborative study among different EU centres, (IKGP, FinnGene, UK England Genomics). In this study she aims to identify the association of the risk of intracranial aneurysm in patients with ADPKD and genome-wide polygenic scores (PGS). This work may have potential clinical implications of identifying ADPKD patients who are at a higher risk of intracranial aneurysms, and require enhanced surveillance and preventive measures.
Sara’s research, conducted in collaboration between University College Dublin, the Royal College of Surgeons in Ireland and Beaumont Hospital, uses recent advancements in a new branch of medicine called "regenerative medicine" to try to better understand what causes a common form of kidney disease called of Polycystic Kidney Disease (PKD). She is interested in why some family members develop kidney failure very early in life (in their 20s or 30s) while other family members get kidney failure much later (in their 60s or 70s). To better understand this, she is using patient-derived stem cells, which can form different types of tissue in the body. Urine samples are collected from the selected patients upon their visit to the Inherited Kidney Disease Clinic at the Beaumont Hospital. The goal is to collect samples from different families to study if there are differences in their genes that explain why some family members get kidney failure early and others get it late in life.
Upon successful isolation and expansion, urine cells are then reprogrammed into stem cells, which is a key step in our studies to develop a "mini kidney in a dish” (known as organoids). The next steps involve making kidney organoids from these newly generated stem cells and investigating the way cysts develop in these "mini kidneys". Sara hopes this research will offer a better understanding of PKD progression and ultimately shed light on potential treatment options for kidney diseases like PKD.
Colm is undertaking an MD via RCSI StarMD programme. His work is focused on trying to solve cases of non-cystic familial kidney disease. As part of the IKGP we review up to 15-20 new cases of suspected hereditary kidney disease per month. He is assessing novel strategies to increase our diagnostic yield including the incorporation of VNTyper to assist in detecting pathogenic variants among regions of VNTR which are traditionally difficult regions to genotype. He is examining the pathogenicity of T62P mutation which has been detected in a number of families with hereditary kidney disease. Finally, he is also examining the utility of MRI to determine renal blood flow to assist in prognostication for patients with ADTKD.
We have also had assistance with multiple research projects from RCSI medical students who complete their Student Selected Project (SSP) with us at the Irish Kidney Gene Project. This work allows medical students to become involved and familiar with research early in their career.
Was this page useful?