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Research Overview
We work on inherited renal disease.
We look for new genes in families with interesting but undiagnosed real diseases.
We curate a database for the second commonest cause of inherited renal failure (Alport syndrome).
We study cell lines made from patients with inherited renal disease to understand how the underlying mutations cause disease.
We test out new treatements in these cell lines to try to modify the effect of mutations.
We use gene editing in these cell lines an dalso make stem cells with our collaborators to determine whether this form of treatement works.
In addition we look at ocular features in inherited renal disease, and what they tell us about disease pathogenesis. We also use the retinal photographs to test for uncontrolled hypertension.
We work on inherited renal disease.
We look for new genes in families with interesting but undiagnosed real diseases.
We curate a database for the second commonest cause of inherited renal failure (Alport syndrome).
We study cell lines made from patients with inherited renal disease to understand how the underlying mutations cause disease.
We test out new treatements in these cell lines to try to modify the effect of mutations.
We use gene editing in these cell lines an dalso make stem cells with our collaborators to determine whether this form of treatement works.
In addition we look at ocular features in inherited renal disease, and what they tell us about disease pathogenesis. We also use the retinal photographs to test for uncontrolled hypertension.
Research Interests
Papers共 278 篇Author StatisticsCo-AuthorSimilar Experts
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Pediatric Nephrologyno. 5 (2024): 1327-1346
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 130-130
AMERICAN JOURNAL OF OPHTHALMOLOGY (2024): 247-253
European journal of human genetics : EJHGno. 1 (2024): 130-130
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 132-132
Frontiers in medicine (2023): 1201712
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