Gaucher Disease

Common Name(s)

Gaucher Disease

Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease" for support, advocacy or research.

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

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 15 Apr 2014

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stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

http://www.stopcaidnow.org

Last Updated: 5 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease" for support, advocacy or research.

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
Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 15 Apr 2014

View Details
stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

http://www.stopcaidnow.org

Last Updated: 5 Mar 2013

View Details

 

General Support Organizations

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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 "Gaucher Disease" returned 260 free, full-text research articles on human participants. First 3 results:

A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients.
 

Author(s): Séverine Lecourt, Enguerran Mouly, Delphine Freida, Audrey Cras, Raphaël Ceccaldi, Djazia Heraoui, Christine Chomienne, Jean-Pierre Marolleau, Bertrand Arnulf, Raphael Porcher, Catherine Caillaud, Valérie Vanneaux, Nadia Belmatoug, Jérôme Larghero

Journal:

 

Gaucher disease (GD) is an autosomal recessive disorder characterized by lysosomal glucocerebrosidase (GBA) deficiency leading to hematological and skeletal manifestations. Mechanisms underlying these symptoms have not yet been elucidated. In vivo, bone marrow (BM) mesenchymal stem ...

Last Updated: 12 Aug 2013

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Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease.
 

Author(s): Laura D Osellame, Ahad A Rahim, Iain P Hargreaves, Matthew E Gegg, Angela Richard-Londt, Sebastian Brandner, Simon N Waddington, Anthony H V Schapira, Michael R Duchen

Journal: Cell Metab.. 2013 Jun;17(6):941-53.

 

Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD). While the clinical and pathological features of idiopathic PD and PD related to gba (PD-GBA) mutations are ...

Last Updated: 10 Jun 2013

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Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
 

Author(s): Alisdair McNeill, Gloria Roberti, Gerassimos Lascaratos, Derralynn Hughes, Atul Mehta, David F Garway-Heath, Anthony H V Schapira

Journal: Mol. Genet. Metab.. 2013 Jun;109(2):221-3.

 

Both Gaucher disease patients and heterozygous glucocerebrosidase mutation carriers are at increased risk of Parkinson's disease. Retinal thinning has been reported in early Parkinson's disease. Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion ...

Last Updated: 3 Jun 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 "Gaucher Disease" returned 27 free, full-text review articles on human participants. First 3 results:

Immunological cells and functions in Gaucher disease.
 

Author(s): Manoj Kumar Pandey, Gregory A Grabowski

Journal: Crit Rev Oncog. 2013 ;18(3):197-220.

 

The macrophage (MΦ) has been the focus of causality, research, and therapy of Gaucher disease, but recent evidence casts doubt its solitary role in the disease pathogenesis. The excess of glucosylceramide (GC) in such cells accounts for some of the disease manifestations. Evidence ...

Last Updated: 20 Mar 2013

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Gaucher disease and other storage disorders.
 

Author(s): Gregory A Grabowski

Journal: Hematology Am Soc Hematol Educ Program. 2012 ;2012():13-8.

 

In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were ...

Last Updated: 12 Dec 2012

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Gaucher disease: insights from a rare Mendelian disorder.
 

Author(s): Ellen Sidransky

Journal: Discov Med. 2012 Oct;14(77):273-81.

 

It has become increasingly clear that "simple" recessive disorders provide unique insight into the complexities of common diseases. For years, research on Gaucher disease, a rare inherited disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase, focused on ...

Last Updated: 1 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

International Collaborative Gaucher Group (ICGG) Gaucher Registry
 

Status: Recruiting

Condition Summary: Gaucher Disease; Cerebroside Lipidosis Syndrome; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease

 

Last Updated: 13 Aug 2013

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Exploration of Immunity in Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 25 Nov 2013

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Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 24 Sep 2013

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