Identifying genetic variants for inherited retinal disease - Laura Whelan

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/