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York exhibition marks Rare Disease Day

Posted on 28 February 2014

Clinicians, scientists, patients, nurses and University of York graduates will mark Rare Disease Day on Friday, 28 February with a special exhibition at York Hospital.

In York, several research groups are tackling important questions to better understand, diagnose and treat rare diseases. These are hosted by the Department of Biology and the Centre for Immunology and Infection at the University of York, and the Hull York Medical School, together with York Teaching Hospital NHS Foundation Trust.

Research highlighted in the exhibition includes:

• Dr Fabiola Martin investigates the virus HTLV, which often remains hidden, but can cause serious illness. She looks after HTLV positive patients at the North East Retrovirology Referral Centre (NERRC).
• Dr Daniel Ungar and his group focus on glycosylation disorders that can affect many different organs and are therefore difficult to diagnose.
• Dr Gonzalo Blanco and his colleagues are working together with physicists to create a new diagnostic tool for Muscular Dystrophies.
• Dr Rebecca Thomas provides quality care for cystic fibrosis patients, while Professor Mike Brockhurst studies how bacteria cause the fatal infections in these patients.
• Dr Sean Sweeney studies the inherited neurological disease Lowe Syndrom using a fruit fly disease-model.
• Dr Pegine Walrad tests proteins of the African Sleeping Sickness parasite in search for new therapies.
• Dr Gareth Evans seeks to understand how the diseased cells of the rare childhood cancer neuroblastoma can be turned into healthy neurons.

A rare disease or disorder is defined in Europe as one which affects fewer than 1 in 2,000 people.

In the EU alone, it is believed that as many as 30m people may be affected by one of over 6,000 different rare diseases. Around 80 per cent of rare diseases have identified genetic origins, while others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. Fifty per cent of rare diseases affect children.

Rare Disease Day is an annual international awareness-raising event launched by EURORDIS and its Council of National Alliances in 2008, with events held across the globe.

The York exhibition, which highlights Centre for Chronic Diseases and Disorders (C2D2) funded research, has been organised by Dr Fabiola Martin, a senior clinical lecturer in HIV medicine, from the University’s Centre for Immunology and Infection. York Biology graduate Shiva Bassi signed up the exhibition with Rare Disease Day, putting York on the Rare Diseases world map.

Dr Martin said: “Over 6,000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Tailored medicine and translational science is urgently required. At York, researchers are developing a greater understanding of the processes underlying infection and the development of disease, and new approaches to prevention and treatment.”

Part of the exhibition highlights Dr Martin’s own research into Human T-lymphotropic virus (HTLV), a retrovirus, which is transmitted similar to HIV but has a very different outcome. Thirty years since its discovery, there is still no treatment to suppress HTLV and more funding is urgently needed to move this field forward.  Together with Shiva Bassi, Dr Martin has set up a successful patient website and Tweet, which has 2,596 followers.

Rare Disease Day 2014 focuses on care and encourages everyone in the rare disease community to ‘Join Together for Better Care’. The York Hospital exhibition includes posters and leaflets on different diseases, and scientists, clinicians and patients will be present all day to explain and guide.

The University of York exhibition will be held in the York Hospital Foyer on Friday, 28 February, from 9:30am until 2.30pm, and is open to all.

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