Tag: MSc Genes Drugs and Stem Cells

Rare diseases: the hidden priority of scientific research

A rare disease, also known as an orphan disease, affects by definition less than five in 10,000 (or 0.05%) of the general population.

Hence the question arises: why a disease as rare as 0.05% of the population presents a good investment of research funding? We think the answer is simple and importantly the math adds up. Here are some facts, based on raredisease.org.uk:

  • 7% of the population, will be affected by a rare disease at some point in their lives, which translates to 3.5 million people in the UK
  • There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in the medical literature each week
  • 80% of rare diseases have a genetic component and are often life-threatening
  • 75% of rare diseases affect children
  • Drug development and research into rare diseases can also help improve treatment for more common diseases

In 2012, the UK Government initiated the 100,000 Genome Project with a particular focus on rare diseases (and cancer). Knowledge gained from this project is already helping to make new diagnoses, thereby aiding the development of new treatments.

An important milestone for patients with rare diseases was the publication of The UK Strategy for Rare Diseases in 2013 which postulates 51 commitments that have to be implemented by 2020. Ranking very high is the urgent need for getting the correct diagnosis. Around four in every 10 patients say they found it difficult to get a correct diagnosis and find suitable support groups. Clearly, the 100,000 Genome Project is an important step in that direction. In addition, and complementary to this, the National Institute for Health Research (NIHR) has invested considerable funding into understanding the characteristics of patients with rare diseases. Finally, multiple pharmaceutical companies are investing strongly in this area. (more…)