Identifying Genetic Variants For Inherited Retinal Disease - Laura Whelan The Genomics Lab podcast

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The Genomics Lab «
Identifying genetic variants for inherited retinal disease - Laura Whelan

4y ago 56:49

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Welcome to Episode 3 of The Genomics Lab! On today's episode we talk to Laura Whelan, who is a PhD researcher at the School of Genetics & Microbiology at the Trinity College Dublin. Laura is part of the Target 5000 programme; the first large-scale study to apply next generation sequencing to the Irish inherited retinal diseases (IRD) patient population. Laura discusses with us some of the causes of IRDs, the different types of IRD, the kind of inheritance involved in these diseases, and how her lab and the Target 5000 initiative use sequencing techniques to both discover novel genetic variants, and validate previous findings of genetic variants involved in the cause of IRDs. Laura discusses the impact of IRD on quality of life, the scale of the problem and the future of this work in terms of improving the diagnostics of IRDs.

Laura's twitter: https://twitter.com/PhD_With_LauraLaura's research paper: https://www.mdpi.com/2073-4425/11/1/105/htmLaura's Instagram: https://www.instagram.com/phd_with_laura/

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