UK rare disease research landscape mapped for first time

[Andy]

A detailed view of the UK's rare disease research has been captured for the first time. A newly-published report reveals over £1.1 billion has been invested by Government and charities over a five-year-period.

The report has been published by The NIHR, in collaboration with:

• The Medical Research Council (MRC)
• Industry,
• Charities
• Devolved administrations

It covers a five-year period from 2016 - 2021. It presents a clear overall picture of the rare disease research taking place across the UK, where it was happening and who funded it.

There are over 7,000 rare diseases. Around 95% of these lack an effective treatment. 75% of rare diseases affect children and more than 30% die before their 5th birthday*. There are an estimated 3.5 million people in the UK living with a rare disease.

The report reveals funding for rare disease research accounted for 7% of the total number of awards funded, and 7% of the total value of funding through NIHR Programmes and the MRC joint research portfolio. It represents almost £627 million invested by both organisations across 698 awards from 2016-2021.

https://www.nihr.ac.uk/news/uk-rare-disease-research-landscape-mapped-for-first-time/34498

 

[duncan]

There are over 7,000 rare diseases. Around 95% of these lack an effective treatment. 75% of rare diseases affect children and more than 30% die before their 5th birthday*. There are an estimated 3.5 million people in the UK living with a rare disease.

It's seldom good to be part of a minority.

 

[Ash]

This is so sad.

 

[SNT Gatchaman]

There are over 7,000 rare diseases. Around 95% of these lack an effective treatment. 75% of rare diseases affect children and more than 30% die before their 5th birthday*.

This is a large part of paediatric healthcare. Eg inborn errors of metabolism that particularly affect the developing brain and its myelination. Sometimes a child can be developing perfectly normally than get a "routine" childhood infection that stresses/exercises the linked immune and metabolic systems, leading to devastating neurological consequences.

On the flip side, sometimes you can work out the cause and there may be a simple dietary supplementation that can lead to a near-normal life. An example is Biotin-thiamine-responsive basal ganglia disease.