Patient Stories

Article I was just 23 years old when I had a sudden cardiac arrest Lisa’s diagnosis of Long QT triggered a series of genetic tests for other members of her family too.

Article I thought my routine of monthly blood transfusions would continue for the rest of my life Mustafa's life changed when he received the offer to be a part of a gene therapy clinical trial.

Article Genetic testing helped explain a lifetime of strange things happening to me No one in my family has Marfan Syndrome, I’m the first.

Article My cancer was diagnosed through a simple blood test Charlie found out that she has stage 4 lung cancer through a new revolutionary test that can diagnose cancer through a simple blood test.

Article Patient-centred care starts with a conversation Meet Alison, Chair of our People & Communities Committee

Article David’s rare diagnosis took time, but we never would have got there without genomics. My son David has a rare condition called Okur-Chung Neurodevelopmental Syndrome (OCNDS). 

Article Lisa’s life changed when two of her sisters died from a hereditary aortic dissection. Lisa’s life changed when two of her sisters died from a hereditary aortic dissection.

Article Taking the fear out of Down Syndrome Meet Sarah-Jane whose daughter Hannah has Down Syndrome.

Article Maisie’s diagnosis helped everything to make sense. When you have a child who is deemed to be failing to thrive, you feel like a failure as a mother. That feeling stopped once we had a genetic diagnosis.

Article Without genetic testing, I would have lived with an incorrect diagnosis Without genetic testing, I would have very different prospects. Now I am able to benefit from new therapies and start to dream again.