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How many people are affected by Rare Diseases?
Why do we need a more precise definition of rare diseases?
What is a rare disease?
Are some diseases 'rare'?
With more than 1,200 rare disorders, you can explore rare disease reports that include information on symptoms, causes, treatments, clinical trials, and sources of help such as patient advocacy organizations.
- Achalasia
Achalasia is a rare disorder of the esophagus, the tube that...
- Aarskog Syndrome
Noonan syndrome with multiple lentigines (NSML) is a rare...
- Acoustic Neuroma
There are many ongoing research investigations to better...
- Abetalipoproteinemia
Some affected individuals may develop a rare eye condition...
- Achondrogenesis
There are many different types of collagen, which are...
- Aceruloplasminemia
Wilson’s disease is a rare genetic disorder characterized by...
- Acanthocheilonemiasis
Acanthocheilonemiasis is a rare tropical infectious disease...
- Ablepharon-Macrostomia Syndrome
AMS has been grouped within the category of diseases called...
- Achalasia
How many rare diseases are there? Regulators, scientists, clinicians and patient advocacy groups often cite ~7,000 as the number of rare diseases, or between 5,000 and 8,000 depending on the source (see Related links below). Why do estimates of the number of rare diseases vary so widely?
- Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi Harris, Heidi Rehm, Ada Hamos...
- 2020
- Ministerial Foreword
- Introduction
- Our Approach
- Priorities
- Underpinning Themes
- Principles of The UK Rare Diseases Framework
- Next Steps
- Annex A: Results of The National Conversation on Rare Diseases Survey
The UK Rare Diseases Framework aims to ensure that the lives of people living with rare diseases continue to improve. We will work across the 4 nations of the United Kingdom to ensure that rare disease patients receive the best possible care, building on the commitments in the UK Strategy for Rare Diseases and major advances in the diagnosis and tr...
A rare disease is defined as a condition which affects less than 1 in 2,000 people. It is currently estimated that there are over 7,000 rare diseases, with new conditions continually being identified as research advances. While 80% of rare diseases have an identified genetic origin, they can also be caused by disordered immunity, infections, allerg...
To identify the priorities for the next 5 years, we undertook a programme of engagement to understand the main challenges for those living and working with rare diseases across the UK and how these could be addressed. In October 2019 government launched the National Conversation on Rare Diseases Survey to seek the views of patients, their families,...
4 key priorities have been identified for the next 5 years, which have been highlighted as major challenges by the rare disease community. Progress in these areas will be vital in order to meet our commitment to improve the lives of those living with rare diseases. Here we set out the importance of addressing each of these areas and the high-level ...
In order to achieve the above outcomes, we recognise that there will need to be a range of supporting activities across the health and social care system. To support these key enablers, 5 underpinning themes have been identified in which work will continue to be progressed to support the priorities of the framework and improve the lives of those li...
All 4 UK nations have signed up to the UK Rare Diseases Framework and have therefore agreed to collaborate to achieve the outcomes set out above. However, as health is a devolved matter, each nation will deliver these aims in a way which is most effective for their respective populations. Therefore, each nation will set out an action plan detailing...
Following the publication of the UK Rare Diseases Framework, all 4 nations will develop action plans which will set out how the priorities identified in the framework will be addressed, taking into account the underpinning themes. These action plans will be developed according to the principles of the UK Rare Diseases Framework and we will work clo...
In July 2019, a national conversation on rare diseases was announcedto capture views from the rare diseases community to form the basis of the new rare diseases framework. To initiate the conversation, a national survey was developed to identify the major challenges faced by those living and working with rare diseases. Findings were discussed with ...
Nov 5, 2019 · How many rare diseases are there? A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches...
- Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi Harris, Heidi Rehm, Ada Hamos...
- 2020
As of 2021, more than 7000 known rare diseases have been identified. Since the introduction of next-generation gene-mapping technologies, more than 100 novel disease-gene associations are currently being identified per year.
A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.
Did you know there are over 10,000 rare diseases? In fact, rare diseases are estimated to affect more than 30 million people in the United States. Each disease may be rare individually, but people with rare diseases often face similar challenges.
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