In 2012, AKU Society CEO Nick Sireau and others founded a charity called Findacure. Findacure helps rare disease patient groups get off the ground. The hope is that all can enjoy the same success as the AKU Society. We covered them on our blog on 11th April – check it out here.

Findacure hold several Rare Disease Showcases each year in different UK cities. These bring together the local rare disease community: patient groups, scientists, doctors and the pharmaceutical industry. Each event ‘showcases’ the personal stories and medical breakthroughs of local people. By connecting people, Findacure aims to drive forward research and transform the lives of rare disease patients.

On 16th August, the Rare Disease Showcase came to Cambridge. Thanks to sponsorship by Cambridge Healthcare Research, Findacure was able to book a large room at local cocktail bar Baroosh. They invited just under 40 delegates from across the rare disease community for some great talks, prosecco, canapés and a lot of networking. Reece, the AKU Society’s Admin and Communications Officer, was there.

Reece was very impressed by Dr. Hilary Longhurst. On top of her job as a consultant immunologist at Addenbrooke’s Hospital, Cambridge, Hilary has set up her own charity, DC Action. DC stands for ‘dyskeratosis congenita’, an ultra-rare disease affecting around one in a million people. Because of a genetic defect, telomeres (genetic material at the end of chromosomes in our cells) are not repaired properly each time cells divide. As a result, people age prematurely. Symptoms can involve damage to skin and nails, bone marrow failure, scarring of the lungs and liver infections.

Hilary founded DC Action in 2016, after finding out that her family was affected by the disease. At that time, dyskeratosis congenita was almost unknown to the medical community. Patients were left isolated. DC Action seeks to change this. They support patients as they deal with NHS services, educate medical professionals in the NHS to achieve faster diagnoses and encourage scientists and pharma to research the disease.

Reece also heard a talk from Laurence Woollard, whom he had met at a previous Findacure event. Laurence is one of three brothers with haemophilia A – an inherited disease where the protein that makes blood clot is missing. People with haemophilia can bleed frequently and spontaneously. In particular, they bleed around the joints, which can lead to chronic joint disease. This has affected Laurence himself. At the age of 16, he had ankle fusion surgery because of joint damage. Having haemophilia, Laurence says, can completely disrupt a person’s life.

In 2017, Laurence started On the Pulse Consultancy. On the Pulse helps haemophilia patients better manage their condition and advocate for better medical care. Research shows there is a more than 10-year gap between the time when a young person first learns to administer medication and the time when they are able effectively to self-manage their condition. No programmes exist to help them during this period. On the Pulse, therefore, is currently working on an education service to help young people make decisions about treatment and care.

Dr. Ramsay Bowden, a scientist at the University of Cambridge, also spoke. She researches the genetic causes of rare diseases. In particular, she is interested in how different genes interact with each other, and how these interactions are expressed. She is using exciting new CRISPR-Cas9 gene editing technology to create new interactions in cell models. This could open up many new avenues in rare disease treatment.

Overall, Reece met a dynamic and upbeat Cambridge rare disease community. New patient groups are being set up all the time.  Medical research is moving forward. If you’re interested, you can watch videos of all the talks (plus others from Addenbrooke’s PAWS GIST clinic, Roboleo & Co and Costello Medicalhere, courtesy of Findacure.