ESHG Webinar Series Episode 2 with Nicky Whiffin
Автор: European Society of Human Genetics
Загружено: 2025-03-27
Просмотров: 998
The non-coding exome in rare disease: from diagnosis to therapies
Over 300 million people worldwide have a rare disorder. Currently, less than half of all individuals with a rare disorder receive a genetic diagnosis and even if the genetic cause of disease is known, over 95% of rare disorders have no specific treatments available. Current approaches to identify genetic diagnoses focus almost exclusively on regions of the genome that directly encode proteins, even when genome sequencing data are available. In this talk, I will discuss how studying gene regulation and genetic variants in regions of the genome that are exonic, but do not encode proteins (i.e. untranslated regions and non-coding RNAs) can identify new diagnoses for rare disease patients and help to develop treatments.
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