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!

On the final episode of Season 2 of The Road to Genome, Helen speaks to Karen Westaway, Lynch Syndrome Project Manager for the West Yorkshire & Harrogate Cancer Alliance.

Karen tells us about her journey into Nursing, her amazing work as one of the Lynch Syndrome Nurse Educators with the NEY GMS, and where she is now.

On this episode of The Road to Genome, Helen chats to Gill Moss, Nurse Director for the North East & Yorkshire Genomic Medicine Service. Some of Gill's earliest memories are of her desire for nursing, and as she says herself, Gill has "quite literally followed her dream".

Gill works to embed genomics into nursing & midwifery pathways, and raise awareness about the benefits it brings to patients across a wide range of areas. Join us to learn more about the road she's travelled so far, and where it might take her next.

On this episode of The Road to Genome, Helen uncovers the twists and turns of Paul Roberts' journey into genomics. From a planned career of teaching, to becoming the Lead Solid Cancer Scientist for the NEY GMS, Paul's route into genomics is, like many, full of twists and turns!

On this episode of The Road to Genome, Helen is joined by Polly Talley, the Haemato-Oncology (HaemOnc) Lead Scientist for the NEY Genomic Laboratory Hub, and Senior Scientific Advisor for HaemOnc with the NHS England Genomics Unit.

Polly tells us about her journey into the world of genomics and how her career has developed, and continues to develop. We also hear insights into the workings of the genomic laboratories, and exciting new developments in the recently launched Genomic Networks of Excellence.

On this episode of The Road to Genome, Helen chats to our Genomic Lead Nurse, Kay Cawthron, about her journey into genomics and her current work with the North East & Yorkshire Genomic Medicine Service.

From a young age, Kay was inspired by nursing, and providing care to those who need it most. Join us to hear how Kay rose to her current position as Genomic Lead Nurse, and the challenges and highlights she experienced along the way.