Rare Disease Day 2020
28th February 2020
Rare Disease Day 2020 takes place on Saturday 29 February. The day aims to raise awareness of rare diseases and the impact on patients’ lives.
A rare disease, also referred to as an orphan disease, is any disorder that affects a small percentage of the population. There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world. In Scotland it is estimated 300,000 people live with a rare disease at any one time, 3.5million throughout the UK and approximately 30million throughout Europe.
Whilst each rare disease may only affect a handful of people, scattered around the world; taken together the number of people directly affected is equivalent to the population of the world’s third-largest country. Despite this, there is no cure for the majority of rare diseases, and many go undiagnosed.
Research is key. It can lead to the identification of previously unknown diseases and increase understanding of diseases. It can enable doctors to give a correct diagnosis, provide information to patients about their disease, and lead to the development of new innovative treatments and in some cases a cure.
NRS Genetics is funded by the Scottish Government to support delivery and promotion of high-quality clinical research in Scotland, across a range of areas including:
- rare diseases
- causes and prevention of birth defects
- common disorders such as familial cancer
- genetic approaches to their treatment and prevention
Led by Dr Jonathan Berg, NRS Genetics manage participant recruitment to time and target, both for Genetics studies which are led from Scotland, and studies led from other nations which Scottish sites are participating in, as well as promoting Scotland as a place to carry out research. Dr Jonathan Berg comments:
“Rare disease research can be challenging – diagnosis can be diﬃcult and patients are often distributed over a wide geographic area limiting the size of local cohorts for research.
Scotland collaborates with colleagues across UK, Europe and internationally providing access to our world class NHS research infrastructure and bringing together enough patients with a particular condition to make research projects feasible.
We want to offer more opportunities for people with rare diseases to participate in research, which in turn leads to improved care and the development of new treatments.”
The network are currently supporting more than 30 genetic studies. Such projects have included:
- Deciphering Developmental Disorders (DDD) study – investigating the use of new genetic technologies to help doctors understand why patients are affected by developmental disorders
- Go-SHARE ADR – to determine the genetic markers that make individuals susceptible to adverse drug reactions
- Genetic Variation in Myotonic Dystrophy – to understand how variation in the genetic material, DNA, of a person with the inherited disease myotonic dystrophy relates to the age of onset and progression of the symptoms throughout the life of the patient
- NIHR Bioresource Rare Diseases – supporting efforts to recruit participants with rare diseases and their relatives to establish a comprehensive repository of consented participants for current or future research
Scotland is also signed up to the Musketeer’s Memorandum - an agreement between the UK’s 23 genetic centres to link as one consortium to benefit rare genetic disease research by reducing the length of time taken to receive approval for a research proposal and ensure:
- every patient with a Rare Disease being more easily identified and offered participation in a study
- easier participation for centres
- attracting more clinical trials to UK
- offering trials on a networked model
Since Rare Disease Day was first launched by EURODIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world.
- The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a ‘rare’ number of days
- The campaign started as a European event and has progressively become a world phenomenon. The campaign targets primarily the general public and also wishes to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases
- EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 800 rare disease patient organisations from 70+ countries that work together to improve the lives of the 30 million people living with a rare disease in Europe. By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services. Follow @eurordis and visit www.eurordis.org.