Rare Disorders

Common Name(s)

Rare Disorders

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rare Disorders" for support, advocacy or research.

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Canadian Organization for Rare Disorders

CORD is Canada's national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada.

Last Updated: 24 Aug 2010

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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EDSers United

Mission is to develop the Treatment and Research Center for Rare Genetic Conditions. This center will specialize in Ehlers-Danlos Syndrome and will adopt other rare diseases as it grows and advances throughout the years. EDSers United was initially launched in 2010 to generate global awareness and to provide overall support to those affected by Ehlers-Danlos Syndrome. We have always focused on steps to one day be a part of finding a cure for all the types of EDS that currently exist. We are a team of EDSers, Caregivers & Health Care Providers dedicated to establishing a center of excellence.

Last Updated: 25 Feb 2016

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Erfocentrum

Through providing objective, reliable information the Erfocentrum supports people in making informed choices regarding their own health and the health of their children. The Erfocentrum also supports people in forming their own personal opinions about social and ethical aspects of genetics and biomedical issues.

Last Updated: 29 Jan 2015

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Federation de Maladies Genetiques Orphelines

Association reconnue d?utilit? publique, la F?d?ration des Maladies Orphelines est n?e de la volont? farouche de faire sortir de l?oubli les maladies orphelines et les personnes qui en sont atteintes.

Last Updated: 24 Nov 2009

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Genetic Alliance Australia

Genetic Alliance Australia (GA-AU) is an umbrella group, facilitating support for those affected directly or indirectly by rare diseases (80% of which are genetic in origin) throughout Australasia. We offer peer support, education and information through our seminars, annual information days and resource booklets. GA-AU has a database of over 950 predominantly rare genetic conditions and a contact register representing approximately 2500 people. GA-AU works in partnership with sister organisations around the world.

Last Updated: 29 Jun 2015

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Glut1 Deficiency Foundation

The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to education, awareness, and advocacy for Glut1 Deficiency and supporting researchers as they work for better treatments and an ultimate cure.

Last Updated: 19 Mar 2013

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National Organization for Rare Disorders, Inc.

The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

Last Updated: 1 Mar 2013

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Rhode Island Rare Disease Foundation

The mission of the Rhode Island Rare Disease Foundation is to benefit Rhode Islanders living with a rare disease and their families by: providing information and support, raising awareness, advocating, and educating both the medical community and the general public.

Last Updated: 23 Sep 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rare Disorders" for support, advocacy or research.

Logo
Canadian Organization for Rare Disorders

CORD is Canada's national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada.

www.raredisorders.ca

Last Updated: 24 Aug 2010

View Details
Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
EDSers United

Mission is to develop the Treatment and Research Center for Rare Genetic Conditions. This center will specialize in Ehlers-Danlos Syndrome and will adopt other rare diseases as it grows and advances throughout the years. EDSers United was initially launched in 2010 to generate global awareness and to provide overall support to those affected by Ehlers-Danlos Syndrome. We have always focused on steps to one day be a part of finding a cure for all the types of EDS that currently exist. We are a team of EDSers, Caregivers & Health Care Providers dedicated to establishing a center of excellence.

https://www.edsers.org

Last Updated: 25 Feb 2016

View Details
Erfocentrum

Through providing objective, reliable information the Erfocentrum supports people in making informed choices regarding their own health and the health of their children. The Erfocentrum also supports people in forming their own personal opinions about social and ethical aspects of genetics and biomedical issues.

http://www.erfelijkheid.nl

Last Updated: 29 Jan 2015

View Details
Logo
Federation de Maladies Genetiques Orphelines

Association reconnue d?utilit? publique, la F?d?ration des Maladies Orphelines est n?e de la volont? farouche de faire sortir de l?oubli les maladies orphelines et les personnes qui en sont atteintes.

http://www.maladies-orphelines.fr/

Last Updated: 24 Nov 2009

View Details
Genetic Alliance Australia

Genetic Alliance Australia (GA-AU) is an umbrella group, facilitating support for those affected directly or indirectly by rare diseases (80% of which are genetic in origin) throughout Australasia. We offer peer support, education and information through our seminars, annual information days and resource booklets. GA-AU has a database of over 950 predominantly rare genetic conditions and a contact register representing approximately 2500 people. GA-AU works in partnership with sister organisations around the world.

http://www.geneticalliance.org.au/

Last Updated: 29 Jun 2015

View Details
Glut1 Deficiency Foundation

The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to education, awareness, and advocacy for Glut1 Deficiency and supporting researchers as they work for better treatments and an ultimate cure.

http://www.G1DFoundation.org

Last Updated: 19 Mar 2013

View Details
National Organization for Rare Disorders, Inc.

The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

http://www.rarediseases.org

Last Updated: 1 Mar 2013

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Rhode Island Rare Disease Foundation

The mission of the Rhode Island Rare Disease Foundation is to benefit Rhode Islanders living with a rare disease and their families by: providing information and support, raising awareness, advocating, and educating both the medical community and the general public.

http://www.rarediseaseunited.org/

Last Updated: 23 Sep 2014

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General Support Organizations

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Blogs

Updated 14 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Rare Disorders" returned 77 free, full-text research articles on human participants. First 3 results:

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
 

Author(s): Eva Leinøe, Eva Zetterberg, Savvas Kinalis, Olga Østrup, Peter Kampmann, Eva Norström, Nadine Andersson, Jenny Klintman, Klaus Qvortrup, Finn Cilius Nielsen, Maria Rossing

Journal: Br. J. Haematol.. 2017 Oct;179(2):308-322.

 

Rare inherited bleeding disorders (IBD) are a common cause of bleeding tendency. To ensure a correct diagnosis, specialized laboratory analyses are necessary. This study reports the results of an upfront diagnostic strategy using targeted whole exome sequencing. In total, 156 patients ...

Last Updated: 27 Jul 2017

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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
 

Author(s): Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, Raymond K Walters, Jack A Kosmicki, Jakob Grove, Kaitlin E Samocha, Jacqueline I Goldstein, Aysu Okbay, Jonas Bybjerg-Grauholm, Thomas Werge, David M Hougaard, Jacob Taylor, , , David Skuse, Bernie Devlin, Richard Anney, Stephan J Sanders, Somer Bishop, Preben Bo Mortensen, Anders D Børglum, George Davey Smith, Mark J Daly, Elise B Robinson

Journal: Nat. Genet.. 2017 Jul;49(7):978-985.

 

Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. ...

Last Updated: 15 May 2017

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Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.
 

Author(s): Stanley Lambertus, Nathalie M Bax, Ana Fakin, Joannes M M Groenewoud, B Jeroen Klevering, Anthony T Moore, Michel Michaelides, Andrew R Webster, Gert Jan van der Wilt, Carel B Hoyng

Journal:

 

Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt ...

Last Updated: 29 Mar 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Rare Disorders" returned 33 free, full-text review articles on human participants. First 3 results:

From disease to treatment: from rare skeletal disorders to treatments for osteoporosis.
 

Author(s): Natasha M Appelman-Dijkstra, Socrates E Papapoulos

Journal: Endocrine. 2016 Jun;52(3):414-26.

 

During the past 15 years there has been an expansion of our knowledge of the cellular and molecular mechanisms regulating bone remodeling that identified new signaling pathways fundamental for bone renewal as well as previously unknown interactions between bone cells. Central for ...

Last Updated: 25 May 2016

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[Ptosis in rare muscle and neuromuscular junction disorders: A literature review and diagnostic flowchart].
 

Author(s): T N Brignol, J A Urtizberea

Journal: J Fr Ophtalmol. 2015 Dec;38(10):e253-4.

 

Last Updated: 17 Dec 2015

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Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease.
 

Author(s): Ashish R Pinnapureddy, Cherie Stayner, John McEwan, Olivia Baddeley, John Forman, Michael R Eccles

Journal:

 

Animals that accurately model human disease are invaluable in medical research, allowing a critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. Many types of animal models are used world-wide, with ...

Last Updated: 2 Sep 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Orodental Manifestations of Rare Diseases
 

Status: Recruiting

Condition Summary: Rare Disease Orodontal

 

Last Updated: 17 Dec 2015

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Last Updated: 26 Apr 2017

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