It takes seven years on average for a person with a rare disease to get the right diagnosis. At Eastern Academic Health Science Network we are helping to deliver the latest NHS innovations to reduce this time and bring high-quality care faster to those who need it.
In supporting RAREfest 2018, the ‘first-of-its-kind’ rare disease-inspired festival in Cambridge, we helped to shine a light on innovations that aim to address the challenges. The Cambridge Rare Disease Network (CRDN) brought together stakeholders in the rare disease community and the region’s public to raise awareness of rare conditions and to showcase innovative solutions.
There were inspirational messages from people living with rare conditions, including speaker Michael McGrath, who was diagnosed with muscular dystrophy 30 years ago. He went on to become the first disabled person to lead expeditions to the North and South Poles and is the driving force behind his family’s charity, The Muscle Help Foundation.
CRDN founding member and Cambridge graduate Abbi Brown shared her experiences of living with the genetic bone condition osteogenesis imperfecta, while actor Adam Pearson, who has neurofibromatosis type 1, focused on breaking the taboos of living with a disfigurement. His bravery had inspired artist Dagmar Bennett to create a hyper-realistic sculpture of Adam, capturing his qualities and inviting people to explore his personality and outlook on life.
Innovative technology is key to assisting the discovery, diagnosis and treatment of rare diseases as well as building communities of support and improving services for those with rare conditions. It has the potential to vastly improve the lives of patients and to give the public a better understanding of conditions that are not well publicised.
Here at Eastern AHSN we have helped a local developer of an algorithm supporting the identification of rare diseases to access £500,000 of funding and are working on other key projects. One of those initiatives uses genetic association to understand the link between genes and diseases while another draws on machine learning techniques to associate diseases with an array of symptoms that may initially be overlooked in medical consultations.
If you have ideas on how to improve NHS services in our region, we want to hear from you. Please submit your suggestions via our new Health InnX East portal https://innovationexchangeeast.org/