Inherited retinal diseases are a common cause of blindness but making a timely, precise diagnosis is often particularly challenging from symptoms and signs alone. Here, Dr Sergouniotis discusses his research on combining genomic information with standardised clinical data to identify the genetic mechanisms underlying visual loss.

Dr Sergouniotis' study recruited 23 people with a specific retinal disorder and analysed their DNA. He then used a statistical framework (gene-based case-control association) to compare these sequences to the genomes of ~2000 healthy/unaffected people. This analysis was possible thanks to a large international collaboration, and it allowed him to to identify which pieces of the genetic sequence are causing the eye condition.

By using such evidence-based precision medicine approaches as a complement to traditional diagnostic methods, Dr Sergouniotis aims to facilitate an accurate and efficient diagnosis for all people living with rare genetic disorders. This can allow doctors to provide personally tailored prognosis and better, more targeted care.

Read more about this work at
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View slides from this presentation at
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Dr Panagiotis Sergouniotis is an NIHR Clinical Lecturer in Ophthalmology at the University of Manchester.
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Dr Sergouniotis gave this talk, "Use of a phenotype-driven statistical clustering approach for eye disease gene discovery", at the Academy of Medical Sciences Spring Meeting, 2017. To read more about the Spring Meeting, visit [ Ссылка ]

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