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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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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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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How do you compare to others with this condition?

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

The legal imperative for treating rare disorders.
 

Author(s): Hanna I Hyry, Jonathan C P Roos, Jeremy Manuel, Timothy M Cox

Journal:

 

Life-saving orphan drugs are some of the most expensive medicines. European Union governments aim to accommodate their provision within stretched healthcare budgets but face pressure to reduce funding of such treatments. Patients struggle to retain or gain access to them as their ...

Last Updated: 15 Nov 2013

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Future perspectives on rare pulmonary diseases and rare presentations of common disorders.
 

Author(s): Sergio Harari, Marc Humbert, Vincent Cottin

Journal: Eur Respir Rev. 2013 Sep;22(129):199-201.

 

Last Updated: 2 Sep 2013

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
 

Author(s): Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo M Xie, Marc Ferre, Konstantina Fragaki, Gaëlle Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Mylène Gilleron, Valérie Desquiret-Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil-Taris, Delphine Martinez, Pauline Gaignard, Kim-Hanh Le Quan Sang, Patrizia Amati-Bonneau, Marni J Falk, Catherine Florentz, Brigitte Chabrol, Isabelle Durand-Zaleski, Véronique Paquis-Flucklinger

Journal: J. Med. Genet.. 2013 Oct;50(10):704-14.

 

Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of cases, depending on the study. However, the prevalence of rare mtDNA mutations ...

Last Updated: 18 Sep 2013

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

Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.
 

Author(s): N Hiroi, T Takahashi, A Hishimoto, T Izumi, S Boku, T Hiramoto

Journal: Mol. Psychiatry. 2013 Nov;18(11):1153-65.

 

Recently discovered genome-wide rare copy number variants (CNVs) have unprecedented levels of statistical association with many developmental neuropsychiatric disorders, including schizophrenia, autism spectrum disorders, intellectual disability and attention deficit hyperactivity ...

Last Updated: 24 Oct 2013

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Evaluating rare variants in complex disorders using next-generation sequencing.
 

Author(s): Matthew Ezewudo, Michael E Zwick

Journal: Curr Psychiatry Rep. 2013 Apr;15(4):349.

 

Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis ...

Last Updated: 25 Feb 2013

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Drug development for rare mitochondrial disorders.
 

Author(s): Orest Hurko

Journal: Neurotherapeutics. 2013 Apr;10(2):286-306.

 

Currently, all treatment of mitochondrial disorders is performed with dietary supplements or by off-label use of drugs approved for other indications. The present challenge is translation of our collective knowledge of the molecular details underlying the pathophysiology of mitochondrial ...

Last Updated: 15 Apr 2013

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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: 24 Oct 2014

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Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD
 

Status: Not yet recruiting

Condition Summary: Genetic Rare Disease

 

Last Updated: 11 Jul 2014

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Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 16 Sep 2014

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