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

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.
 

Author(s): Hoang T Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M Huckins, Ana B Munoz-Manchado, Douglas M Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu, Dalila Pinto, Sten Linnarsson, Matthijs Verhage, August B Smit, Jens Hjerling-Leffler, Joseph D Buxbaum, Christina Hultman, Pamela Sklar, Shaun M Purcell, Kasper Lage, Xin He, Patrick F Sullivan, Eli A Stahl

Journal:

 

Integrating rare variation from trio family and case-control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASD), intellectual disability (ID), developmental disorders (DDs), and epilepsy ...

Last Updated: 31 Dec 1969

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Early Recognition and Management of Rare Kidney Stone Disorders.
 

Author(s): Boss Goldstein, David S Goldfarb

Journal: Urol Nurs. ;37(2):81-9, 102.

 

Kidney stones, especially those that present in childhood/adolescence, may be due to rare inherited disorders such as cystinuria. Early recognition and prompt treatment can help reduce or even prevent the serious long-term complications of these rare stone disorders.

Last Updated: 31 Dec 1969

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Dietary Interventions for Rare Metabolic Disorders - Now Available in India!
 

Author(s): Anupam Sachdeva

Journal: Indian Pediatr. 2017 11;54(11):909-910.

 

Last Updated: 31 Dec 1969

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

Drug discovery and development for rare genetic disorders.
 

Author(s): Wei Sun, Wei Zheng, Anton Simeonov

Journal: Am. J. Med. Genet. A. 2017 Sep;173(9):2307-2322.

 

Approximately 7,000 rare diseases affect millions of individuals in the United States. Although rare diseases taken together have an enormous impact, there is a significant gap between basic research and clinical interventions. Opportunities now exist to accelerate drug development ...

Last Updated: 31 Dec 1969

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mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders.
 

Author(s): David N Franz, Jamie K Capal

Journal:

 

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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

Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
 

Status: Not yet recruiting

Condition Summary: Rare Diseases; Genetic Predisposition

 

Last Updated: 6 Apr 2018

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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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