Participant story

Helen Cawthorne from Nottingham has volunteered to join the 100,000 Genomes Project.

Diagnosed with a rare heart condition, Helen wants to help unlock new interventions or tests and thus help others with conditions similar to her own. Helen-Cawthorne-PIC-2

The 54-year-old, who works as a part-time biology teacher at Carlton Academy, went into cardiac arrest while swimming in 2011 and was later diagnosed with a rare heart condition called arrhythmogenic right ventricular cardiomyopathy.

Helen explains: “If anyone gets the heads up early that they’ve got a condition, they can hopefully manage it or somehow in the future three might be interventions or diagnostic testing to help. That’s why I signed up. If I can help a little bit that means the world to me”.

Nicola McMaster, programme manager for the 100,000 Genomes Project in Nottingham, said:

“It’s a case of making new discoveries that in future might lead to better care or diagnosis or more effective monitoring. The impact could be huge”.

Dr Brian Thomson, the project lead at Nottingham University Hospitals, said: “For the first time we will also be able to d the cause of many rare but important diseases, and so provide better care for patients and their families. It is a wonderful example of using the best and most advanced science to improve the outcomes of medical care”.

For more participant stories please click here. For a parent’s perspective please click here.