List of rare disease organisations

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This is a list of non-profit organisations working in the area of rare diseases.

Contents

International

Africa

Asia

Europe

Germany

United Kingdom

United States

Canada

Related Research Articles

Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. It is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.

<span class="mw-page-title-main">Glycogen storage disease</span> Medical condition

A glycogen storage disease is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.

A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases.

<span class="mw-page-title-main">Sanfilippo syndrome</span> Rare metabolism disorder

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides). In children with this condition, these sugar molecules build up in the body and eventually lead to damage of the central nervous system and other organ systems.

<span class="mw-page-title-main">Xeroderma pigmentosum</span> Medical condition

Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and seizures, may also occur. Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts. There may be a higher risk of other cancers such as brain cancers.

<span class="mw-page-title-main">Ring chromosome</span> Chromosome whose ends have fused together to form a ring

A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first discovered by Lilian Vaughan Morgan in 1926. A ring chromosome is denoted by the symbol r in human genetics and R in Drosophila genetics. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development.

<span class="mw-page-title-main">Blue diaper syndrome</span> Medical condition

Blue diaper syndrome is a rare, autosomal recessive or X linked recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia.

<span class="mw-page-title-main">Cohen syndrome</span> Medical condition

Cohen syndrome is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction.

<span class="mw-page-title-main">CSL Behring</span> Biopharmaceutical company

CSL Behring is a biopharmaceutical company, manufacturing plasma-derived and recombinant therapeutic products. The company is a combination of Behringwerke, founded in 1904 in Marburg, Germany by Emil von Behring, and the Commonwealth Serum Laboratories (CSL), established in Australia in 1916 to provide vaccines to the people of Australia, as well as other companies acquired since 2004.

Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation and global developmental delay.

Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.

<span class="mw-page-title-main">John Crowley (businessman)</span> American biotechnology executive and entrepreneur

John Francis Crowley is the President and CEO of the Biotechnology Innovation Organization (BIO), the world’s largest biotechnology advocacy organization. He served as the chairman and CEO of Amicus Therapeutics. He co-founded Novazyme Pharmaceuticals with William Canfield, which was later acquired by Genzyme Corporation, and founded Orexigen Therapeutics. In 2006, he was profiled in the book The Cure: How a Father Raised $100 Million – And Bucked the Medical Establishment – In a Quest to Save His Children by Geeta Anand. In 2010, Crowley released his memoir, Chasing Miracles: The Crowley Family Journey of Strength, Hope, and Joy. Crowley and his family were the inspiration for the movie Extraordinary Measures starring Harrison Ford and Brendan Fraser in 2010. Crowley was named CEO of the Biotechnology Innovation Organization, the largest Biotechnology advocacy organization in the world, in 2023.

Danon disease is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. It is inherited in an X-linked dominant pattern.

<span class="mw-page-title-main">National Organization for Rare Disorders</span> U.S. nonprofit organization

The National Organization for Rare Disorders (NORD) is a nonprofit organization, based in Connecticut, aiming to provide support for individuals with rare diseases by advocating and funding research, education, and networking among service providers. It was founded in 1983 by Abbey Meyers, along with individuals and rare diseases leaders of rare disease support groups, and it is a 501(c)(3) tax exempt organization.

<span class="mw-page-title-main">Rare Disease Day</span> Observance to raise awareness for rare diseases

Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. The date is chosen because in leap years it is February 29, the rarest date. The European Organisation for Rare Diseases established the day in 2008 to raise awareness for unknown or overlooked illnesses. According to that organization, treatment for many rare diseases is insufficient, as are the social networks to support individuals with rare diseases and their families; furthermore, while there were already numerous days dedicated to individuals with specific diseases, there had previously not been a day for representing those affected by rare diseases. In 2009, Rare Disease Day went global as the National Organization for Rare Disorders mobilized 200 rare disease patient advocacy organizations in the United States while organizations in China, Australia, Taiwan, and Latin America also lead efforts in their respective countries to coordinate activities and promote the day.

<span class="mw-page-title-main">Reticular dysgenesis</span> Medical condition

Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in immunodeficiency. Individuals with RD have mutations in both copies of the AK2 gene. Mutations in this gene lead to absence of AK2 protein. AK2 protein allows hematopoietic stem cells to differentiate and proliferate. Hematopoietic stem cells give rise to blood cells.

Autophagic vacuolar myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy. The features highlighted are vacuolar membranes of the autophagic vacuoles having sarcolemmal characteristics and an excess of autophagic vacuoles. There are currently five types of AVM identified. The signs and symptoms become more severe over the course of the disease. It begins with an inability to pick up small objects and progresses to difficulty in walking. The age of onset varies from early childhood to late adulthood, affecting people of all ages.

<span class="mw-page-title-main">Zebra print ribbon</span> The zebra print ribbon is used for awareness of rare diseases

The zebra print ribbon is the awareness ribbon for uncommon or rare diseases and cancers including but not limited to neuroendocrine tumors, carcinoid cancer, Ehlers-Danlos Syndromes, Whipple's disease and awareness of other rare diseases, cancers and disorders.

Ada Hamosh is an American pediatrician and geneticist. She is the Frank V. Sutland Professor of Genetics in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University. She is a physician-scientist known for resources she created for researchers and clinicians globally.

References

  1. 1 2 "Care-for-Rare Foundation für Kinder mit seltenen Erkrankungen – Helfen Sie uns, den Waisen der Medizin zu helfen!". Care-for-Rare Foundation (in German). Retrieved 2024-03-22.
  2. ↑ "International Coalition of Organizations Supporting Endocrine Patients (ICOSEP)". International Coalition of Organizations Supporting Endocrine Patients (ICOSEP). Retrieved 2024-03-22.
  3. ↑ "Rare Diseases International". Rare Diseases International. Retrieved 7 September 2022.
  4. ↑ "ICORD | International Collaboration on Rare Diseases and Orphan Drugs". ICORD. July 2, 2019.
  5. ↑ "NGO Committee for Rare Diseases". NGO Committee for Rare Diseases. Retrieved 2024-03-22.
  6. ↑ "Global Commission on Rare Disease". Global Rare Disease Commission. Archived from the original on 2022-11-09. Retrieved 2024-03-22.
  7. ↑ "Rare Disease Day 2024". Rare Disease Day 2024. Retrieved 2024-03-22.
  8. ↑ "Rare Disease | Apardo | Singapore". APARDO. Retrieved 2024-03-22.
  9. ↑ "IRDiRC – International Rare Diseases Research Consortium". International Rare Diseases Research Consortium. Retrieved 2024-03-22.
  10. ↑ "Orphanet". Orphanet . Retrieved 2024-03-22.
  11. ↑ "RareConnect". RareConnect . Retrieved 2024-03-22.
  12. ↑ "Rare Disease". APEC .
  13. ↑ "Organization for Rare Diseases". IndoUSRare. Retrieved 2024-03-22.
  14. ↑ "RareGen". RareGen. Retrieved 2024-11-08.
  15. ↑ "Foundation for Neuromuscular Support Nigeria". nigeria24.me. Nigeria 24. Retrieved 7 September 2022.
  16. ↑ "Rare Disease Ghana Initiative". NORD (National Organization for Rare Disorders). 11 August 2022. Retrieved 7 September 2022.
  17. ↑ "Home page". www.haemocare.org.ng. Haemophilia Foundation of Nigeria. Retrieved 7 September 2022.
  18. ↑ "Rare Disease Day Nigeria 2022" . Retrieved 7 September 2022. Hosted by Rare Disease Nigeria, ...
  19. ↑ "Home". Cardiac Community. Retrieved 7 September 2022.
  20. ↑ "Organization For Rare Diseases India | ORDI". Organization For Rare Diseases India. Retrieved 2024-03-22.
  21. ↑ "Pompe foundation | Indian Pompe Disease helpline". Pompe Foundation. Retrieved 2024-03-22.
  22. ↑ "TFRD Home". Taiwan Foundation for Rare Disorders. Retrieved 2024-03-22.
  23. ↑ "RARE DISEASE HONG KONG". RARE DISEASE HONG KONG. Retrieved 2024-03-22.
  24. ↑ "病痛挑战基金会". China Illness Challenge Foundation. Retrieved 2024-03-22.
  25. ↑ "瓷娃娃罕见病关爱中心 - 成骨不全症｜脆骨病｜罕见骨病｜残障". China-Dolls Center for Rare Disorders. Retrieved 2024-03-22.
  26. ↑ "IORD - Indian Organization for Rare Diseases". Indian Organization for Rare Diseases. Retrieved 2024-03-22.
  27. ↑ "Home". EURORDIS. Retrieved 2024-03-22.
  28. ↑ "ERA-Net for research programmes on rare diseases | E-RARE Project | Fact Sheet | FP6". CORDIS | European Commission. Retrieved 2024-03-22.
  29. ↑ "EUCERD". Archived from the original on 2020-10-18. Retrieved 2020-05-20.
  30. ↑ "INNOVCare". INNOVCare. Retrieved 2024-03-22.
  31. ↑ "RD-Connect – RD-Connect website". RD-Connect. Retrieved 2024-03-22.
  32. ↑ "Epirare.eu - Europäische Plattform für Gesundheit & Genetik". Epirare.eu.
  33. ↑ http://www.wardiseases/ [ dead link ]
  34. ↑ "The World Association of Cured Rare Diseases - WACRD". World Association of Cured Rare Diseases. Archived from the original on 2019-07-03. Retrieved 2024-03-22.
  35. ↑ "Home - NPUK". www.npuk.org. Retrieved 7 September 2022.
  36. ↑ "Home - Rare Disease UK". www.raredisease.org.uk. Retrieved 7 September 2022.
  37. ↑ "Rare Autoinflammatory Conditions Community – UK". raccuk.com. Retrieved 7 September 2022.
  38. ↑ "The Aarskog Foundation - Home". www.aarskogsyndromefoundation.co.uk. Retrieved 7 September 2022.
  39. ↑ "About NORD". National Organization for Rare Disorders. 30 July 2008. Archived from the original on 17 February 2009. Retrieved 14 February 2009.
  40. ↑ "The National Organization for Rare Disorders (NORD) Names Peter Saltonstall New President". Reuters . 5 May 2008. Archived from the original on January 4, 2013. Retrieved 14 February 2009.
  41. ↑ "About Us". EveryLife Foundation for Rare Diseases. Retrieved 2024-03-22.
  42. ↑ "What is a Genetic Disease". Genetic Alliance. Archived from the original on 2007-07-11. Retrieved 2012-09-24.
  43. ↑ "Homepage - Global Genes". Global Genes . Retrieved 2024-03-22.
  44. ↑ "Home - Genetic and Rare Diseases Information Center". Genetic and Rare Diseases Information Center . Retrieved 2024-03-22.
  45. ↑ "RDCA-DAP | Critical Path Institute". Critical Path Institute: Rare Disease Cures Accelerator-Data and Analytics Platform. Retrieved 2024-03-22.
  46. ↑ "Rare Kids Network". Rare Kids Network. Archived from the original on 2020-08-03. Retrieved 2024-03-22.
  47. ↑ "Rare & Undiagnosed Network". Rare & Undiagnosed Network.
  48. ↑ http://swanusa.org/
  49. ↑ "Undiagnosed Diseases Network". UDN. Retrieved 2024-03-22.
  50. ↑ "Canadian Organization for Rare Disorders". Raredisorders.ca. Retrieved 2012-09-24.
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