Rare disease (English Wikipedia)

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". Journal of Molecular Medicine. 88 (9): 931–9. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8): 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.
Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P. (February 2020). "How many rare diseases are there?". Nature Reviews. Drug Discovery. 19 (2): 77–78. doi:10.1038/d41573-019-00180-y. ISSN 1474-1776. PMC 7771654. PMID 32020066.
Nguengang Wakap, Stéphanie; Lambert, Deborah M.; Olry, Annie; Rodwell, Charlotte; Gueydan, Charlotte; Lanneau, Valérie; Murphy, Daniel; Le Cam, Yann; Rath, Ana (2020). "Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database". European Journal of Human Genetics. 28 (2): 165–173. doi:10.1038/s41431-019-0508-0. ISSN 1476-5438. PMC 6974615. PMID 31527858.
Kariampuzha, William; Alyea, Gioconda; Qu, Sue; Sanjak, Jaleal; Mathé, Ewy; Sid, Eric; Chatelaine, Haley; Yadaw, Arjun; Xu, Yanji; Zhu, Qian (2023). "Precision information extraction for rare disease epidemiology at scale". Journal of Translational Medicine. 21 (1): 157. doi:10.1186/s12967-023-04011-y. PMC 9972634. PMID 36855134.
Aymé S, Schmidtke J (December 2007). "Networking for rare diseases: a necessity for Europe". Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 50 (12): 1477–83. doi:10.1007/s00103-007-0381-9. PMID 18026888. S2CID 36072660.
Nunn JS, Gwynne K, Gray S, Lacaze P (March 2021). "Involving people affected by a rare condition in shaping future genomic research". Research Involvement and Engagement. 7 (1): 14. doi:10.1186/s40900-021-00256-3. PMC 7958104. PMID 33722276.

ecpc-online.org

"02/2009: Rare Cancers on Rare Disease Day". Ecpc-online.org. 28 February 2009. Archived from the original on 26 July 2011. Retrieved 24 September 2012.

england.nhs.uk

Implementation Plan for the UK Strategy for Rare Diseases (PDF). NHS England. 29 January 2018. Retrieved 29 January 2018.

europa.eu

ec.europa.eu

"Useful Information on Rare Diseases from an EU Perspective" (PDF). European Commission. Retrieved 19 May 2009.

eurordis.org

"Rare Diseases: Understanding This Public Health Priority" (PDF). European Organisation for Rare Diseases (EURORDIS). November 2005. Retrieved 16 May 2009.
"What is a rare disease?". eurordis.org. Retrieved 4 August 2022.

fda.gov

Orphan Drug Act §526(a)(2)

geneticalliance.org.uk

"The Westminster All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions". Genetic Alliance UK. Retrieved 26 October 2017.
"Rare Disease Day". Genetic Alliance. Retrieved 29 February 2024. chosen because 29 February is the rarest day of the year

globalgenes.org

"RARE List". globalgenes.org. Global Genes. 15 April 2016. Retrieved 29 January 2023.

gov.uk

"The UK Rare Diseases Framework". GOV.UK. 9 January 2021. Retrieved 12 September 2021.
The UK Strategy for Rare Diseases (PDF). Department of Health. 2013. Retrieved 26 October 2017.
"The UK Rare Diseases Framework". GOV.UK. Department of Health and Social Care. 9 January 2021. Retrieved 12 January 2021.
"England Rare Diseases Action Plan 2022". GOV.UK. Department of Health & Social Care. Retrieved 22 March 2022.

gpo.gov

frwebgate.access.gpo.gov

"Rare Disease Act of 2002". United States Congress. Retrieved 21 January 2022.

handle.net

hdl.handle.net

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". Journal of Molecular Medicine. 88 (9): 931–9. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.

ima.org.il

Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (June 2016). "Rare Diseases in Europe: from a Wide to a Local Perspective" (PDF). The Israel Medical Association Journal (Review). 18 (6): 359–63. PMID 27468531.

indianexpress.com

"Rare Diseases Day: Experts call for more research for patients' welfare". The Indian Express. 28 February 2021. Retrieved 12 September 2021.

jpost.com

Siegel-Itzkovich, Judy (24 May 2022). "Israeli researchers find possible new therapies for rare neurological disorder". The Jerusalem Post. Retrieved 4 October 2024. One of them, called Field's Disease, is considered to be the rarest orphan disease, as only three people are known to have ever had it, two of them being the twin sisters Catherine and Kirstie Fields from Wales.

keionline.org

"KEI Briefing Note 2020:4 Selected Government Definitions of Orphan or Rare Diseases". Knowledge Ecology International. Retrieved 12 September 2021.

medicalnewstoday.com

"February 29th Is The First Rare Disease Day". Medical News Today. 28 February 2008. Archived from the original on 7 June 2020. Retrieved 14 February 2009.

nih.gov

pubmed.ncbi.nlm.nih.gov

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". Journal of Molecular Medicine. 88 (9): 931–9. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8): 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.
Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P. (February 2020). "How many rare diseases are there?". Nature Reviews. Drug Discovery. 19 (2): 77–78. doi:10.1038/d41573-019-00180-y. ISSN 1474-1776. PMC 7771654. PMID 32020066.
Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (June 2016). "Rare Diseases in Europe: from a Wide to a Local Perspective" (PDF). The Israel Medical Association Journal (Review). 18 (6): 359–63. PMID 27468531.
Nguengang Wakap, Stéphanie; Lambert, Deborah M.; Olry, Annie; Rodwell, Charlotte; Gueydan, Charlotte; Lanneau, Valérie; Murphy, Daniel; Le Cam, Yann; Rath, Ana (2020). "Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database". European Journal of Human Genetics. 28 (2): 165–173. doi:10.1038/s41431-019-0508-0. ISSN 1476-5438. PMC 6974615. PMID 31527858.
Kariampuzha, William; Alyea, Gioconda; Qu, Sue; Sanjak, Jaleal; Mathé, Ewy; Sid, Eric; Chatelaine, Haley; Yadaw, Arjun; Xu, Yanji; Zhu, Qian (2023). "Precision information extraction for rare disease epidemiology at scale". Journal of Translational Medicine. 21 (1): 157. doi:10.1186/s12967-023-04011-y. PMC 9972634. PMID 36855134.
Aymé S, Schmidtke J (December 2007). "Networking for rare diseases: a necessity for Europe". Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 50 (12): 1477–83. doi:10.1007/s00103-007-0381-9. PMID 18026888. S2CID 36072660.
Nunn JS, Gwynne K, Gray S, Lacaze P (March 2021). "Involving people affected by a rare condition in shaping future genomic research". Research Involvement and Engagement. 7 (1): 14. doi:10.1186/s40900-021-00256-3. PMC 7958104. PMID 33722276.

ncbi.nlm.nih.gov

Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P. (February 2020). "How many rare diseases are there?". Nature Reviews. Drug Discovery. 19 (2): 77–78. doi:10.1038/d41573-019-00180-y. ISSN 1474-1776. PMC 7771654. PMID 32020066.
Nguengang Wakap, Stéphanie; Lambert, Deborah M.; Olry, Annie; Rodwell, Charlotte; Gueydan, Charlotte; Lanneau, Valérie; Murphy, Daniel; Le Cam, Yann; Rath, Ana (2020). "Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database". European Journal of Human Genetics. 28 (2): 165–173. doi:10.1038/s41431-019-0508-0. ISSN 1476-5438. PMC 6974615. PMID 31527858.
Kariampuzha, William; Alyea, Gioconda; Qu, Sue; Sanjak, Jaleal; Mathé, Ewy; Sid, Eric; Chatelaine, Haley; Yadaw, Arjun; Xu, Yanji; Zhu, Qian (2023). "Precision information extraction for rare disease epidemiology at scale". Journal of Translational Medicine. 21 (1): 157. doi:10.1186/s12967-023-04011-y. PMC 9972634. PMID 36855134.
Nunn JS, Gwynne K, Gray S, Lacaze P (March 2021). "Involving people affected by a rare condition in shaping future genomic research". Research Involvement and Engagement. 7 (1): 14. doi:10.1186/s40900-021-00256-3. PMC 7958104. PMID 33722276.

rarediseases.info.nih.gov

"Genetic and Rare Diseases Information Center". National Center for Advancing Translational Sciences, US National Institutes of Health. 2019. Retrieved 12 October 2019.

orphanews.org

international.orphanews.org

"Newsletter". OrphaNews – International.

raredisease.org.uk

All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions (February 2017). Leaving No One Behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases (PDF). Rare Disease UK. Retrieved 29 January 2018.

rarediseases.org

"NORD – National Organization for Rare Disorders, Inc". Archived from the original on 18 June 2008.
"Join Us In Observing Rare Disease Day On Feb. 28, 2009!". National Organization for Rare Disorders. Archived from the original on 18 December 2008.

rarediseasesnetwork.org

Network, Rare Diseases Clinical Research. "About Us". Rare Diseases Clinical Research Network.

rarerevolutionmagazine.com

"Rare Revolution Magazine". rarerevolutionmagazine.com/. Retrieved 27 September 2023.

regione.veneto.it

malattierare.regione.veneto.it

"Rare diseases: what are we talking about?". Rare diseases centre – Venetian Region – Italy. Retrieved 21 January 2022.

savemylife.in

"Building a Strong Rare Disease Community: How You Can Help". 5 March 2025. Retrieved 5 March 2025.

sciencedirect.com

Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8): 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.

semanticscholar.org

api.semanticscholar.org

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". Journal of Molecular Medicine. 88 (9): 931–9. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8): 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.
Aymé S, Schmidtke J (December 2007). "Networking for rare diseases: a necessity for Europe". Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 50 (12): 1477–83. doi:10.1007/s00103-007-0381-9. PMID 18026888. S2CID 36072660.

siope.eu

"Rare Diseases". Siope.Eu. 9 June 2009. Archived from the original on 3 December 2012. Retrieved 24 September 2012.

vumc.nl

research.vumc.nl

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". Journal of Molecular Medicine. 88 (9): 931–9. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.

web.archive.org

"Rare Diseases". Siope.Eu. 9 June 2009. Archived from the original on 3 December 2012. Retrieved 24 September 2012.
"02/2009: Rare Cancers on Rare Disease Day". Ecpc-online.org. 28 February 2009. Archived from the original on 26 July 2011. Retrieved 24 September 2012.
"NORD – National Organization for Rare Disorders, Inc". Archived from the original on 18 June 2008.
"February 29th Is The First Rare Disease Day". Medical News Today. 28 February 2008. Archived from the original on 7 June 2020. Retrieved 14 February 2009.
"Join Us In Observing Rare Disease Day On Feb. 28, 2009!". National Organization for Rare Disorders. Archived from the original on 18 December 2008.

worldcat.org

search.worldcat.org

Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8): 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.
Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P. (February 2020). "How many rare diseases are there?". Nature Reviews. Drug Discovery. 19 (2): 77–78. doi:10.1038/d41573-019-00180-y. ISSN 1474-1776. PMC 7771654. PMID 32020066.
Nguengang Wakap, Stéphanie; Lambert, Deborah M.; Olry, Annie; Rodwell, Charlotte; Gueydan, Charlotte; Lanneau, Valérie; Murphy, Daniel; Le Cam, Yann; Rath, Ana (2020). "Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database". European Journal of Human Genetics. 28 (2): 165–173. doi:10.1038/s41431-019-0508-0. ISSN 1476-5438. PMC 6974615. PMID 31527858.