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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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

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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.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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

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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.

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

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.

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

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.

http://www.G1DFoundation.org

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.

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 48 free, full-text research articles on human participants. First 3 results:

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
 

Author(s): Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw, Michelle Fox, Brent L Fogel, Julian A Martinez-Agosto, Derek A Wong, Vivian Y Chang, Perry B Shieh, Christina G S Palmer, Katrina M Dipple, Wayne W Grody, Eric Vilain, Stanley F Nelson

Journal: JAMA. 2014 Nov;312(18):1880-7.

 

Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders.

Last Updated: 12 Nov 2014

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Incremental cost per quality-adjusted life year gained? The need for alternative methods to evaluate medical interventions for ultra-rare disorders.
 

Author(s): Michael Schlander, Silvio Garattini, Søren Holm, Peter Kolominsky-Rabas, Erik Nord, Ulf Persson, Maarten Postma, Jeff Richardson, Steven Simoens, Oriol de Solà Morales, Keith Tolley, Mondher Toumi

Journal: J Comp Eff Res. 2014 Jul;3(4):399-422.

 

Drugs for ultra-rare disorders (URDs) rank prominently among the most expensive medicines on a cost-per-patient basis. Many of them do not meet conventional standards for cost-effectiveness. In light of the high fixed cost of R&D, this challenge is inversely related to the prevalence ...

Last Updated: 3 Oct 2014

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Voice disorders induced by bevacizumab administration in an ovarian cancer patient: an underestimated and rare toxicity.
 

Author(s): P Kountourakis, G Antoniou, K Papadimitriou, V Vassiliou, D Syrigos, M Philippou, D Papamichael

Journal: Hematol Oncol Stem Cell Ther. 2014 Sep;7(3):123-4.

 

Last Updated: 15 Sep 2014

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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 21 free, full-text review articles on human participants. First 3 results:

Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
 

Author(s): Taha Faruqi, Naveen Dhawan, Jaya Bahl, Vineet Gupta, Shivani Vohra, Khin Tu, Samir M Abdelmagid

Journal: Biomed Res Int. 2014 ;2014():670842.

 

A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. ...

Last Updated: 22 Dec 2014

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[Metastases in the temporomandibular joint: a review from 1954 to 2013. Rare causes for temporomandibular disorders].
 

Author(s): Christine Pretzl, Heinz-Theo Lübbers, Klaus W Grätz, Astrid L Kruse

Journal: Swiss Dent J. 2014 ;124(10):1067-83.

 

Metastatic lesions make up approximately 1% of all oral cancers.A comparatively rare location is the temporomandibular joint.Leading symptoms can be misdirecting, especially in the beginning,because they are frequently similar or even identical to those occurring in temporomandibular ...

Last Updated: 24 Oct 2014

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Transplantation in rare lymphoproliferative and histiocytic disorders.
 

Author(s): Alexis Cruz-Chacon, John Mathews, Ernesto Ayala

Journal: Cancer Control. 2014 Oct;21(4):335-42.

 

Some uncommon lymphoproliferative and histiocytic disorders may present with an aggressive course and require hematopoietic stem cell transplantation (HSCT) as part of the therapeutic approach.

Last Updated: 14 Oct 2014

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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

Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford
 

Status: Recruiting

Condition Summary: Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence

 

Last Updated: 19 Aug 2015

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Pregnancy and Medically Assisted Conception in Rare Diseases
 

Status: Recruiting

Condition Summary: Rheumatoid Arthritis; Spondyloarthritis; Psoriatic Arthritis; Systemic Lupus Erythematosus; Antiphospholipid Syndrome; Sjogren Syndrome; Scleroderma; Myositis; Vasculitis; Mastocytosis; Various Autoimmune and/or Systemic and/or Rare Diseases

 

Last Updated: 20 May 2015

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Orodental Manifestations of Rare Diseases
 

Status: Recruiting

Condition Summary: Rare Disease Orodontal

 

Last Updated: 24 Mar 2015

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