49 min listen
Identifying genetic variants for inherited retinal disease - Laura Whelan
FromThe Genomics Lab
ratings:
Length:
57 minutes
Released:
Jan 20, 2021
Format:
Podcast episode
Description
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/
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/
Released:
Jan 20, 2021
Format:
Podcast episode
Titles in the series (34)
How neuroepigenetics can help us to better understand spinal cord injury -Jess Chadwick by The Genomics Lab