Having gone through breast cancer, I had a genetic test done which showed that I had a mutation that basically meant I had been, unknown to me, at a 60-90% risk of getting breast cancer and a 40-60% risk of getting ovarian cancer. Had I known this earlier, I could have taken preventative measures to avoid getting cancer. In addition, we have a 13-year-old son with a rare genetic disorder which took 10 years to diagnose, so I understand the power of genetic testing. When I saw the GenoFit study, I thought this was a great opportunity to help contribute to really important research, that in the future will allow a better prediction of disease risk, diagnose illnesses earlier and therefore, more accurately guide clinical care and preventative treatment. I can only hope that this will help my children and other families in the future – knowledge is power! A few hours of my time and providing my data was a small price to pay for this, particularly as I felt safe in the knowledge that all data was pseudonymised.
“When I read about the study being undertaken by Genuity Science it was a ‘no brainer for me’; I just had to take part. I immediately contacted my neurologist and requested that I be included. I believe that everyone should ‘pay it forward’. My contribution to this study will not benefit me personally; it’s for the generations, for those that come after me. There is nothing in it for me. I’m doing it because I firmly believe it is the right thing to do.”
“In 2014, I was diagnosed with Crohn’s disease which forced me to reassess my career as an elite athlete. Due to the amazing treatment and care I received, I can now manage the disease and continue doing what I love the most. Genuity Science’s goal is that, through genomics, IBD patients like me won’t have to discover their condition at an advanced stage, usually by accident and often painfully. In the future, I hope genomic sequencing will help identify conditions early on and help treat them via tailored and targeted medicines.”
“Since I was diagnosed with IBD at fifteen years old, I’ve had three major surgeries to try and bring my condition under control. As someone living with IBD, the hope is that a cure will be found sometime in the future and the more we increase our understanding of IBD through research such as that being conducted by Genuity Science, the better chance we have of finding that cure or at least improving the treatments available.”
“Multiple Sclerosis is such a complex disease – the symptoms can vary significantly from person to person, and the result is that the tests and treatments can be somewhat trial-and-error. So I’m really excited by the potential of the research by Genuity Science to identify the genetic markers of MS, which could lead to early detection and more accurate targeted treatments.”
“Though I was born with Ankylosing Spondylitis (AS), the condition was not correctly identified until I was in my thirties, by which time inflammation had caused significant tissue damage. The incredible potential of Genuity Science’s genomic research is that it could possibly discover the condition from very early on, meaning its early treatment and management. I can’t express enough how extremely beneficial this would be to people with AS or related conditions, which are often difficult to diagnose. Genuity’s research really is the future of medicine.”
“The potential of genomics is that it can accurately pinpoint, down to the exact gene or set of genes, the roots of asthma’s symptoms, leading to far more accurate and targeted treatments. Genomics will be able to identify the condition from an early stage too, before it manifests itself, meaning that treatment can start early and before it causes significant damage. In all, I am excited by Genuity Science’s research and the possibilities it holds for tackling and maybe even eradicating asthma in the future.”
At age 8, Mary Ann Cleary had suffered a painful and debilitating condition called dystonia for several years. By 2017, her condition had rapidly deteriorated and she was placed on life support. In conjunction with CHI@ Temple Street, our researchers sequenced and analysed Mary Ann's entire genetic code in order to identify what was causing her condition. This resulted in the identification of a variant in a gene in Mary Ann's DNA. The identification of this variant led to a life-saving treatment for Mary Ann.
Our complex disease studies focus on specific medical conditions where there may be a genetic or inherited link to the condition.