Ep 106: The Colliding World of Rare and Common Disease Genetics with Caroline Wright, Professor of Genomic Medicine at Exeter University
August 31, 2023
In this episode, Patrick welcomes Caroline Wright, a leading expert in genomic medicine and Professor of Genomic Medicine at Exeter University. Listen in as they delve into the world of rare diseases, discussing the challenges in diagnosis, uses of population cohorts and, the potential of newborn screening. Caroline shares her excitement about new technologies in genomics and emphasises the importance of data sharing. Discover the significance of genetic variants and the need for cautious interpretation.
In this episode, Patrick welcomes Caroline Wright, a leading expert in genomic medicine and Professor of Genomic Medicine at Exeter University. Listen in as they delve into the world of rare diseases, discussing the challenges in diagnosis, uses of population cohorts and, the potential of newborn screening. Caroline shares her excitement about new technologies in genomics and emphasises the importance of data sharing. Discover the significance of genetic variants and the need for cautious interpretation.
Timestamps:
00:48 - An overview of Caroline’s major projects and challenges
02:32 - Deciphering developmental disorders (DDD)
05:24 - The challenges in missense variants and in silico protein structure analysis
07:25 - Impact of missed coding regions on rare disease diagnosis
10:01 - The dual challenge of increasing sample size and searching the entire genome
11:42 - Explaining ascertainment bias
15:02 - The challenge of building phenotypic databases
16:46 - Promising cohort studies for ultra-rare diseases
18:13 - Opportunities in newborn screening
20:16 - Handling incidental findings
21:22 - Caroline’s journey into genomics
24:06 - Caroline’s take on AlphaFold and other protein folding models
25:39 - Promising technologies on the horizon
26:59 - What can the rare disease world learn from the common disease world?
29:09 - Closing remarks