This week we come to you from the heart of Guys Hospital, London, supported by the South East Genomic Medicine Service Alliance.

In the first part of this 2-part episode, Helen talks to Adam Clatworthy about his family's diagnostic odyssey that eventually saw 2 of his children diagnosed with the rare disease, CRELD1. Sharing the reality of their journey and daily experiences, we get an insight into the search for a diagnosis.

On this episode, our host Helen Bethell talks all things Pharmacogenomics with Emma Groves, pharmacy lead for the North East & Yorkshire Genomic Medicine Service. Her interest in genomics was sparked by an online teaching session on monogenic diabetes, and ever since then Emma has been fascinated by the potential of genomics.

Emma tells us about the development of the field of pharmacogenomics, exciting projects that are coming down the pipeline, and how her journey brought her to where she is today.

On the first episode of season 3, our host Helen Bethell talks to Dr Lydia Green, a leading expert in the field of Leukodystrophies, or Inherited White Matter Disorders (IWMD) which affect the transmission of nervous impulses throughout the body, negatively impacting patients’ development, communication, cognitive and motor skills.

Lydia tells us about her journey to becoming an expert in this field, how incredibly powerful the service can be for patients and families, and where she wants to take the service next!