Researcher launches platform for people with rare diseases

The new South West Rare Disease Policy group will bring people together to inform recommendations on how to improve current policies

Konstantin Glebov Research

Mrs Amy King

Media and Communications Officer

Communication Services (Marketing and Communications)

3 June 2021

A University of Plymouth academic has launched a new initiative to provide a lifeline to people with rare diseases.

Dr Konstantin Glebov and the new South West Rare Disease Policy group will bring together people from across the South West with scientists, policy makers and medical professionals to inform recommendations on how to improve current policies.

See the new website http://www.rarediseasessouthwest.org.uk

In Europe, a disease is classified as being rare when it affects fewer than 5 in 10,000 people within the general population. These diseases are often genetic and of low prevalence, so special combined efforts are needed to address them, but there are as many as 7,000 different conditions.

Dr Glebov said:

“In 2013, the UK government published ‘The UK Strategy for Rare Diseases which ‘aims to ensure no one gets left behind just because they have a rare disease’.

"Whilst UK wide policies exist, the needs of patients with rare diseases and their families are still poorly addressed on a local level. This is where we come in.”

A scientist in the University’s Plymouth Institute of Health Research (PIHR), Dr Glebov is normally lab-based, focusing on glia cells – the most abundant cell type in human brain – and how they communicate with neurons. The study of these mechanisms can help to understand molecular basis of rare brain disorders.

But local news articles about children suffering with rare diseases such as Kabuki syndrome inspired him to set up a group outside of the lab, and he secured funding from Research England QR Strategic Priorities Fund to bring it to life.

He continued:

“We’re proud to have set this up, and the group now needs to hear from people with rare diseases and their families about the support they need and want to see. We want to influence policy and affect change, ensuring that just a condition is rare, it doesn’t mean you don’t get the support you need.

“Whatever your age and whatever your rare condition, we want to hear from you.”

Macrovesicular hepatic steatosis of the liver (fatty liver disease). Image courtesy of GettyImages

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