How can genomics help us understand rare conditions?

How can genomics help us understand rare conditions?

From Behind the Genes by Genomics England

June 10, 2026 · 10 min · Episode 191

About this episode

This episode explores how genomics aids in understanding rare conditions with insights from Jamie Ellingford.

In this explainer episode, we’ve asked Jamie Ellingford, Lead Genomic Data Scientist for Rare Disease, to explain how genomics is helping us better understand rare conditions. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. [00:00:00] Florence: How can genomics help us better understand rare conditions? My name is Florence Cornish, and today I am joined by our Lead Genomic Data Scientist for Rare Disease, Jamie Ellingford, and he is going to be sharing lots more insights about the topic with us. So, I guess before we begin, Jamie, it might be useful if you could explain what we actually mean by the term 'rare condition'? [00:00:25] Jamie: Sure. Hi, Florence. So, a rare condition we define as something that impacts one in less than two thousand people, and so that's something that occurs really infrequently in the population. But we know that collectively there's lots of different rare diseases. And so, the estimates…

People in this episode

Host: Florence Cornish

Guest: Jamie Ellingford

Topics covered

  • genomics
  • rare conditions
  • rare diseases
  • data science
  • healthcare

Keywords

  • genomics
  • rare conditions
  • rare diseases
  • data science
  • healthcare

Mentioned in this episode

Organizations: Genomics England

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