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Dr Omid Sadeghi-Alavijeh
UCL Department of Renal Medicine
Royal Free Hospital
Tel: 020 8016 8266 x68266
Dr Omid Sadeghi-Alavijeh profile picture
  • Clinical Training Fellow
  • Renal Medicine
  • Div of Medicine
  • Faculty of Medical Sciences

I am an NIHR academic renal trainee currently taking time out to complete an MRC funded PhD at the Centre for Genetics and Genomics within the department of Renal Medicine at UCL. I am part of Professor Daniel Gale's group using bioinformatic techniques to analyse the genetics of renal pathology with an interest in cystic kidney disease. 

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Cystic kidney diseases, including polycystic kidney disease, account for a significant proportion of kidney failure in the UK, often run in families and usually result from a change in a gene (instructions that organisms use to establish and maintain healthy function). 

However, not everyone with cystic kidney disease will develop kidney failure and the reasons

for this variability are poorly understood.

I look at sequencing data from whole genomes of families with cystic kidney disease in the 100,000 genomes project. This combined with detailed clinical information, such as which other organs are affected and whether and when kidney failure developed makes for a powerful dataset.  

This will reveal the utility and benefits of genome sequencing to diagnose the cause of cystic kidney disease in patients and will provide new insights into the consequences and severity of each type of gene change. 

Previous studies have shown that in around 10% of families with polycystic kidney disease the gene responsible cannot be identified. By using comparisons with genome sequences from large numbers of people without kidney disease, this project is uniquely placed to identify changes in genes not previously thought to be involved in cystic kidney disease, providing new insights into how kidney cysts form and develop, potentially leading to new treatments.

14-SEP-2019 MRC Doctoral Fellow Department of Renal Medicine UCL, United Kingdom
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