Ep 106: The Colliding World of Rare and Common Disease Genetics with Caroline Wright, Professor of Genomic Medicine at Exeter University

The Genetics Podcast

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