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职业迁徙
个人简介
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.
研究兴趣
论文共 271 篇作者统计合作学者相似作者
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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
Judy Savige,Helen Storey,Elizabeth Watson,Jens Michael Hertz,Constantinos Deltas,Alessandra Renieri,Francesca Mari,Pascale Hilbert,Pavlina Plevova,Peter Byers, Agne Cerkauskaite, Martin Gregory,
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 132-132
Frontiers in medicine (2023): 1201712
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Joseph Phillipos,Thao Vi Luong, Deborah Chang,Suresh Varadarajan, Paul Howat,Lauren Hodgson,Deb Colville,Judy Savige
Frontiers in Medicine (2023): 1265555
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