Patients with rare diseases are being encouraged to meet the researchers behind the pioneering work being carried out in the region with the North of England’s first Rare Disease Showcase.
The event involves a number of leading experts from Newcastle University and is open to anyone with an interest in the medical research taking place in the area.
Newcastle Rare Disease Showcase will feature inspirational talks from local patients and researchers who will discuss in detail the work that is going on to help people with a variety of conditions.
Mike Briggs, professor of skeletal genetics at the Institute of Genetic Medicine, Newcastle University, will highlight drug repurposing for rare bone diseases: from pre-clinical trials to clinical trials.
He said: “Were are extremely proud to have the first Rare Disease Showcase event held in the North of England.
“Researchers at Newcastle University have a long-standing and international reputation in rare disease studies, which is highlighted by the numerous European collaborations we are involved in.
“A key focus of the Rare Disease Showcase is to highlight the repurposing of existing drugs as therapies. This powerful and cost-effective approach will help deliver an increasing number of treatments for many conditions.
“It is important that we raise awareness of rare diseases because research changes the lives of millions of people and their families living with a serious condition across the world.”
A patient speaker at the event is Charlotte Proud, from Gateshead, who has osteogenesis imperfecta – a condition commonly known as brittle bone disease.
The physiotherapy associate practitioner has had approximately 50 fractures since birth as her condition results in her bones breaking easily due to a lack of collagen in the body.
Charlotte said: “The Newcastle Rare Disease Showcase is a very important event for anyone who has a rare disease or is interested in the kind of research taking place in the region.
“Brittle bone disease is a condition that affects approximately one in 15,000 people so it is great to be part of an event which highlights a number of rare diseases and pioneering studies going on.”
Charlotte has never let her condition hold her back. She has twice completed the Yorkshire marathon, 10 half marathons, as well as a 250 mile charity bike ride across Holland. She was selected to be a torchbearer for London 2012 Olympics for recognition for her volunteering in sport.
She added: “I never like to be treated any differently from anyone else. I’ve a positive ‘can do’ attitude and I’m always ready to prove people wrong in what I can achieve – this is the message I want to get across at the event.”
A rare disease is a condition that affects less than one in 2,000 people, though they come much rarer than that and many of them affect only a handful of people in the UK.
At present, only 400 of the 7,000 rare diseases have a licensed treatment, and 35% of rare disease patients will not live to see their fifth birthday.
The event is being hosted by the rare disease charity, Findacure.
Dr Rick Thompson, CEO of Findacure, said: “This is a really exciting opportunity for Findacure to help build a rare disease community in the North East of the country. Rare diseases can be incredibly isolating and appropriate support can be difficult to come across.
“We want to show patients that they’re not alone and that progress is being made, and we want to give patient groups, researchers, clinicians and pharma the opportunity to meet each other and find ways to work together.”
The Showcase is at the Centre for Life, Newcastle, on October 31st. It is free for patients, patient groups and charities to attend. There is a small fee for students, academics/clinicians and industry.
To find out more about the event please visit www.findacure.org.uk/nrds