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.

Last Updated: 26 Dec 2012

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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.

Last Updated: 13 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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

Last Updated: 5 Mar 2013

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The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

Last Updated: 21 Jul 2015

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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 "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
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: 13 May 2014

View Details
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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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
The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 21 Jul 2015

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

Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.
 

Author(s): Judi A Sgambato, Tea Soon Park, Diana Miller, Leelamma M Panicker, Ellen Sidransky, Yu Lun, Ola Awad, Søren M Bentzen, Elias T Zambidis, Ricardo A Feldman

Journal: Stem Cells Transl Med. 2015 Aug;4(8):878-86.

 

Gaucher disease (GD) is the most common lysosomal storage disease resulting from mutations in the lysosomal enzyme glucocerebrosidase (GCase). The hematopoietic abnormalities in GD include the presence of characteristic Gaucher macrophages that infiltrate patient tissues and cytopenias. ...

Last Updated: 23 Jul 2015

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Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
 

Author(s): Jérôme Stirnemann, Christian Rose, Christine Serratrice, Florence Dalbies, Olivier Lidove, Agathe Masseau, Yves-Marie Pers, Camille Baron, Nadia Belmatoug

Journal:

 

In 2009, a worldwide supply constraint of imiglucerase led to treatment modifications or interruptions for patients with Gaucher disease (GD) type 1. In France, joint treatment recommendations were issued to protect the most vulnerable patients. This observational study evaluated ...

Last Updated: 18 May 2015

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Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
 

Author(s): Slavomíra Mattošová, Ján Chandoga, Anna Hlavatá, Jana Saligová, Danka Maceková

Journal: Isr. Med. Assoc. J.. 2015 Mar;17(3):166-70.

 

Gaucher disease is the most common lysosomal storage disorder and is caused by a deficiency of the enzyme glucocerebrosidase. Enzyme deficiency leads to the accumulation of undegraded substrates, mainly in cells of the monocyte/ macrophage lineage, which is responsible for the clinical ...

Last Updated: 7 May 2015

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

Gaucher disease. Unusual presentation and mini-review.
 

Author(s): Tamer M Rizk, Rafiu O Ariganjoye, Gihad I Alsaeed

Journal: Neurosciences (Riyadh). 2015 Jul;20(3):271-6.

 

We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages ...

Last Updated: 13 Jul 2015

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Gaucher disease: a lysosomal neurodegenerative disorder.
 

Author(s): W J Huang, X Zhang, W W Chen

Journal: Eur Rev Med Pharmacol Sci. 2015 Apr;19(7):1219-26.

 

Gaucher disease is a multisystemic disorder that affects men and woman in equal numbers and occurs in all ethnic groups at any age with racial variations and an estimated worldwide incidence of 1/75,000. It is caused by a genetic deficient activity of the lysosomal enzyme glucocerebrosidase ...

Last Updated: 27 Apr 2015

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Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle.
 

Author(s): S Pablo Sardi, Seng H Cheng, Lamya S Shihabuddin

Journal: Prog. Neurobiol.. 2015 Feb;125():47-62.

 

Gaucher disease, the most common lysosomal storage disease, is caused by a recessively inherited deficiency in glucocerebrosidase and subsequent accumulation of toxic lipid substrates. Heterozygous mutations in the lysosomal glucocerebrosidase gene (GBA1) have recently been recognized ...

Last Updated: 9 Feb 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease Type 1; Gaucher Disease Type 3

 

Last Updated: 18 Aug 2015

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Miglustat on Gaucher Disease Type IIIB
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 11 Aug 2015

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Thrombocytopathy in Gaucher Disease Patients
 

Status: Recruiting

Condition Summary: Gaucher Disease; Thrombocytopathy

 

Last Updated: 27 Apr 2011

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