Diseases gaucher disease. Medical search. Frequent questions

According to recent research, as many as 14 percent of people with Gaucher disease wait seven years or more for their doctors to correctly identify the cause of their symptoms. (gaucherdisease.org)
Even on the standard of care, people with Gaucher disease have a shortened life expectancy 10 and may experience debilitating symptoms that significantly reduce their quality of life. (avrobio.com)
People with Gaucher disease do not make enough of the enzyme glucocerebrosidase (GCase). (raredisease.net)
SRTs partly block the body from making glucocerebroside, the fatty chemical that builds up in people with Gaucher disease. (raredisease.net)
People with Gaucher disease may need other treatments to manage the symptoms and complications of the condition. (raredisease.net)
Treatment focuses on allowing people with Gaucher disease to go about their daily lives without fatigue , joint pain, shortness of breath, or the dangers of osteoporosis. (raredisease.net)
The goal is to limit the fat buildup (GL1 substrates) to a level that can be effectively cleared by the naturally occurring enzyme (all living people with Gaucher disease have a little enzyme) with residual activity. (thinkgenetic.com)

The Macrophages that are affected by such a accumulation are called Gaucher cells. (tu-muenchen.de)
Therefore, the waste product accumulates in fibrils and turns into so called Gaucher cells (that resemble crumpled-up paper on light microscopy). (tu-muenchen.de)

Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. (wikipedia.org)
Some forms of Gaucher's disease may be treated with enzyme replacement therapy. (wikipedia.org)
Gaucher's disease is the most common of the lysosomal storage diseases. (wikipedia.org)
Neurological symptoms occur only in some types of Gaucher's (see below): Type I: impaired olfaction and cognition Type II: serious convulsions, hypertonia, intellectual disability, and apnea Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia Parkinson's disease is recognized as being more common in Gaucher's disease patients and their heterozygous carrier relatives. (wikipedia.org)
Yellowish-brown skin pigmentation The three types of Gaucher's disease are autosomal recessive. (wikipedia.org)
SAN DIEGO - Eliglustat ( Cerdelga , Genzyme), a new oral treatment for type 1 Gaucher's disease, works almost as well as intravenous enzyme replacement therapy with imiglucerase, new research shows. (medscape.com)
Gaucher's disease, also known as glucocerebrosidase deficiency, is an autosomal recessive disease that affects about 1 in 20,000 live births. (medscape.com)
Although Gaucher's disease is pan-ethnic, type 1 is the most common inherited Jewish genetic disease. (medscape.com)
The US Food and Drug Administration (FDA) approved eliglustat in hard capsule format for adults with type 1 Gaucher's disease in August. (medscape.com)
In one, patients with Gaucher's disease treated for 9 months with eliglustat did much better than those treated for 9 months with placebo. (medscape.com)
Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. (medscape.com)
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. (medscape.com)
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. (medscape.com)
The genetic disease, Gaucher's disease, causes a disorder of the lipid metabolism. (tu-muenchen.de)
There exist three phenotypic expressions of the Gaucher's disease. (tu-muenchen.de)
The most common type of the Gaucher's disease has also the mildest illnes degree. (tu-muenchen.de)
The Type III of Gaucher's disease begins in childhood or adolescence. (tu-muenchen.de)
According to National Gaucher Foundation (USA) nearly 1 person in 20,000 has Gaucher's disease. (tu-muenchen.de)
Type II Gaucher's disease does not seem to be preferentially represented by a specific ethnic group. (tu-muenchen.de)
Type III Gaucher's disease occurs most frequently in the northern Swedish region of Norrbotten. (tu-muenchen.de)
Diagnosis of Gaucher's disease is possible. (tu-muenchen.de)
In a study of 159 patients with Gaucher's disease, researchers found that fewer patients treated with eliglustat (85%) than imiglucerase (94%) met criteria for hemoglobin level, platelet count, spleen volume, and liver volume indicating stable disease for 12 months. (medscape.com)
RIPK3 as a potential therapeutic target for Gaucher's disease. (ox.ac.uk)
Gaucher's disease (GD), an inherited metabolic disorder caused by mutations in the glucocerebrosidase gene (GBA), is the most common lysosomal storage disease. (ox.ac.uk)
Gaucher's disease is a rare Lysosomal Storage Disorder (LSD) caused by the accumulation of glucosylceramide/glucocerebroside. (ejournals.ca)
This case study aims to evaluate Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia. (ejournals.ca)
Gaucher's disease is a rare case and difficult to diagnose. (ejournals.ca)
2. Essabar L, Meskini T, Lamalmi N, Ettair S, Erreimi N, Mouane N. Gaucher's disease: report of 11 cases with review of literature. (ejournals.ca)

The Gaucher-causing mutations may have entered the Ashkenazi Jewish gene pool in the early Middle Ages (48-55 generations ago). (wikipedia.org)
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (medscape.com)
Hematologically important mutations: Gaucher disease. (medscape.com)
Heterozygous mutations in GBA are a major risk factor for Parkinson's disease. (ox.ac.uk)
In rare cases, a genetic test for Duchenne will be inconclusive, because not all mutations causing the disease have been firmly identified. (everydayhealth.com)
7. Beutler E, Demina A, Gelbart T. Glucocerebrosidase mutations in Gaucher disease. (ejournals.ca)

There are 3 types of Gaucher disease, which vary in epidemiology, enzyme activity, and manifestations. (msdmanuals.com)
GD types 2 and 3 are seen around the world, but are the most common types of Gaucher disease seen outside the United States, like in Taiwan, Japan, India and Egypt. (thinkgenetic.com)

Sidransky E, Pastores GM, Mori M. Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser? (medscape.com)
Individualization of long-term enzyme replacement therapy for Gaucher disease. (medscape.com)
As Dr. Pramod K. Mistry told Reuters Health by email, "Prior to the introduction of alglucerase/imiglucerase enzyme-replacement therapy for Gaucher disease type 1, patients tended to have had prior splenectomy and destructive skeletal complications, such as bone crises and avascular necrosis. (medscape.com)
Enzyme replacement and substrate reduction therapy for Gaucher disease. (ejournals.ca)

Diagnosis of Gaucher disease is by DNA analysis and/or enzyme analysis of white blood cells. (msdmanuals.com)
Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. (biomedcentral.com)

Intensive phenotyping in a subgroup of 40 patients originally considered to have only systemic features, revealed neurological involvement in 18: two had Parkinson disease and 16 had clinical signs compatible with neuronopathic Gaucher disease-indicating a greater than expected prevalence of neurological features. (ox.ac.uk)

The glycolipid storage gives rise to the characteristic Gaucher cells, macrophages engorged with lipid with a crumpled-tissue-paper appearance and displaced nuclei. (medscape.com)
The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. (umassmed.edu)

a 5-fold risk to develop Parkinson's disease, which is the highest known risk-factor. (tu-muenchen.de)
They are also studying a protein that builds up in Gaucher disease, Parkinson's disease, and Lewy body dementia. (raredisease.net)

The macrophages that clear these cells are unable to eliminate the waste product, which accumulates in fibrils, and turn into 'Gaucher cells', which appear on light microscopy to resemble crumpled-up paper. (wikipedia.org)

Gaucher disease (GD) is an autosomal recessive disorder caused by a mutation in the beta-glucocerebrosidase ( GBA ) gene. (bmj.com)
The disease befalls both females and males and is inherited in autosomal recessive manner. (tu-muenchen.de)
Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)

Enzyme replacement therapy (ERT) is indicated for patients with type 1 and type 3 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. (medscape.com)
However, some cases do not fit precisely into one of these categories, and the disease should be viewed as a spectrum of symptoms. (medscape.com)
The good news: NGF is working toward developing better tools to make it easier to recognize symptoms and link them to Gaucher disease. (gaucherdisease.org)
Many early signs and symptoms of Gaucher disease mimic those found in other illnesses and health conditions. (gaucherdisease.org)
As a result, health care providers may not take the signs and symptoms of Gaucher disease seriously at first. (gaucherdisease.org)
The rarity of Gaucher disease, together with common signs and symptoms patients experience, present a significant diagnostic challenge to healthcare providers and patients alike. (gaucherdisease.org)
When people experience Gaucher disease symptoms , they often turn to general practitioners or family doctors for help. (gaucherdisease.org)
But in most cases, these physicians aren't trained to recognize certain symptoms, like enlarged spleen and nosebleeds, as subtle hints of Gaucher disease. (gaucherdisease.org)
So when they see patients with symptoms seen in more common conditions, Gaucher disease is probably not the first thing that comes to mind. (gaucherdisease.org)
SymptomMatcher matches self-reported symptoms with genetic diseases known to cause those symptoms. (gaucherdisease.org)
It's possible to be matched to more than one genetic disease possibility, depending on your symptoms. (gaucherdisease.org)
Although ERT and SRT have been shown to improve some of the symptoms of Gaucher disease affecting the body, neither of these treatments impact the neurologic symptoms of Gaucher disease. (avrobio.com)
Dependent of the severe of the disease, the disease shows different symptoms. (tu-muenchen.de)
There is no cure for Gaucher disease but there are treatments for symptoms of type 1 and the non-neurological symptoms of type 3. (raredisease.net)
Symptoms and signs of type II Gaucher disease are progressive neurologic deterioration (eg, rigidity, seizures) and death by age 2 years. (msdmanuals.com)
Gaucher disease related health issues can start at any age but based on the timing when symptoms begin and the seriousness of the medical issues it is divided into 3 types: type 1, type 2 and type 3. (thinkgenetic.com)
The video shows the world the many ages, faces, ethnicities, languages and cultures it affects and will help medical professionals and people affected by Gaucher recognize symptoms. (lysosomaldiseasenetwork.org)
GD is a heterogeneous disease, and each patient is unique regarding age of onset and range of symptoms, rate of disease progression, and comorbidities. (biomedcentral.com)
It is characterized by slowly progressive yet milder neurologic symptoms compared to type 2 Gaucher disease. (nih.gov)

Type 2 (acute infantile neuropathic Gaucher disease) is rare and causes severe, irreversible brain damage quickly. (raredisease.net)
GD type 2 is the most severe and acute life-threatening form of the disease with health issues usually beginning before birth. (thinkgenetic.com)
Type 2 (acute infantile neuropathic Gaucher disease) typically begins within three months of birth. (nih.gov)

Gaucher disease is a rare genetic disorder resulting from a deficiency of the enzyme glucocerebrosidase, also known as GCase. (avrobio.com)
Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. (nih.gov)

The disease occurs when the lipid glucosylceramide accumulates in the bone marrow, lungs, spleen, liver, and sometimes the brain. (medscape.com)
If left untreated, it can enlarge the liver and spleen and cause anemia, thrombocytopenia, neurologic damage, and bone disease, among other manifestations. (medscape.com)
Even the hallmark signs of Gaucher disease, such as enlarged spleen (splenomegaly), can be caused by other issues like infections, metabolic disorders, or certain cancers. (gaucherdisease.org)
Without this enzyme, Gaucher fat cells build up in the spleen, liver, and bone marrow. (raredisease.net)
Although biopsy is unnecessary, Gaucher cells-lipid-laden tissue macrophages in the liver, spleen, lymph nodes, bone marrow, or brain that have a wrinkled tissue-paper appearance-are diagnostic. (msdmanuals.com)
Gaucher disease (GD) is a rare genetic condition that affects the bones, liver, spleen, and other parts of the body. (thinkgenetic.com)
GD type 3 is an intermediate, chronic form of the disease which causes issues not only with the spleen, liver and bones but affects the brain. (thinkgenetic.com)
The researchers point out that, "In each age group there was a highly significant excess of key manifestations of bone disease (bone crisis, ischemic bone events, and bone pain) in splenectomized patients compared to patients with intact spleen. (medscape.com)

some patients present in childhood with virtually all the complications of Gaucher disease, whereas others remain asymptomatic into the eighth decade of life. (medscape.com)
it resulted in accelerated disease in bone and in other organs as well as life-threatening complications such as pulmonary hypertension. (medscape.com)
Many questions remain for interrogation (incidence of complications beyond skeleton, including at-risk cancers) but the enigmatic pathogenesis of the disease remains mysterious and ripe for continuing study," added Dr. Cox, who was not involved in the study. (medscape.com)
Gaucher disease: haematological presentations and complications. (ejournals.ca)

About one in 100 people in the United States are carriers of the most common type of Gaucher disease. (wikipedia.org)
Patients with type 1 disease commonly present with painless splenomegaly, anemia, or thrombocytopenia. (medscape.com)
Patients with type 2 disease may present prenatally, at birth or during infancy with increased tone, seizures, strabismus, and organomegaly. (medscape.com)
Failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants with type 2 disease. (medscape.com)
Patients with type 3 disease, in addition to organomegaly and bony involvement, present with neurologic involvement, most often including slowing of the horizontal saccadic eye movements. (medscape.com)
Substrate reduction therapy (SRT) is an alternative treatment for appropriate adult patients with type 1 Gaucher disease. (medscape.com)
ERT sometimes is started in patients with type 2 GD, as often there can be a question regarding disease type and progression, and to delay may have significant impact on patient outcomes. (medscape.com)
Type 1 Gaucher disease is more common among individuals with Ashkenazi Jewish heritage, although all types are panethnic in their distribution. (medscape.com)
Zimran A, Altarescu G, Phillips M, Attias D, Jmoudiak M, Deeb M. Phase I/II and extension study of velaglucerase alfa (Gene-ActivatedTM human glucocerebrosidase) replacement therapy in adults with type 1 Gaucher disease: 48-month experience. (medscape.com)
Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. (medscape.com)
Life expectancy in Gaucher disease type 1. (medscape.com)
Substrate reduction therapy, or SRT, is also available for patients with Gaucher disease type 1. (avrobio.com)
Gaucher disease type 2 is unusually fatal, typically causing death before two years of age. (avrobio.com)
Her story reflects the experience of one person living with Gaucher disease type 1. (avrobio.com)
Adrianna was diagnosed with Gaucher disease type 1 when she was 18. (avrobio.com)
Most children with this type of Gaucher won't reach the age of five. (tu-muenchen.de)
The disease progress is slower than in type II. (tu-muenchen.de)
The oral glucosylceramide (glucocerebroside) synthase inhibitor eliglustat, approved by the FDA for treatment of Gaucher disease type 1 (GD1) in August 2014, has proven as effective as intravenous enzyme replacement therapy with imiglucerase. (medscape.com)
In addition to organomegaly and bony involvement, individuals with type 3 disease have neurologic involvement. (medscape.com)
Type 1 Gaucher disease is more common among individuals of Ashkenazi Jewish descent, although all 3 types are panethnic in their distribution. (medscape.com)
Type 3 (chronic neuropathic Gaucher disease) is rare in the United States and Europe but is the most common form globally. (raredisease.net)
Usually, type 1 Gaucher disease is non-neuronopathic, meaning it does not affect the brain. (thinkgenetic.com)
Affected individuals with type 1 Gaucher disease typically have 20% of the normal enzyme level compared with unaffected individuals. (thinkgenetic.com)
Rare diseases affect about 30 million Americans - roughly the same number as those with type 2 diabetes. (gaucherdiseasenews.com)
NEW YORK (Reuters Health) - Alglucerase/imiglucerase enzyme-replacement therapy (ERT) has reduced the need for potentially harmful procedures in patients with Gaucher disease type 1, according to registry data. (medscape.com)
RESULTS: At baseline, 223 of the 250 patients were classified as type 1 Gaucher disease. (ox.ac.uk)
Type 1 GD was the first lysosomal storage disease (LSD) for which enzyme therapy became available, and although infusions of recombinant glucocerebrosidase (GCase) ameliorate the systemic effects of GD, the lack of efficacy for the neurological manifestations, along with the considerable expense and inconvenience of enzyme therapy for patients, renders the search for alternative or complementary therapies paramount. (ox.ac.uk)
Type 1 (nonneuronopathic type) is the most common form of the disease in the U.S. and Europe. (nih.gov)
Niemann-Pick disease type C is not caused by a deficiency of sphlingomyelinase but by a lack of the NPC1 or NPC2 proteins. (nih.gov)

The study reveals diverse and changing phenotypic manifestations with systemic, skeletal and neurological disease as inter-related sources of disability. (ox.ac.uk)

The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. (wikipedia.org)
Parkinson disease: This is more common in patients with Gaucher disease and GBA1 mutation carriers. (medscape.com)
Subjects with Parkinson disease are more than 5 times more likely to have a mutation in the glucocerebrosidase gene. (medscape.com)
Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). (medscape.com)
The cause of Gaucher disease is a recessive mutation in a houskeeping gene lysosomal glucocerebrosidase (beta-glucosidase, glucosylceramidase) on chromosome 1 (1q21). (tu-muenchen.de)
Gaucher disease is caused by a change (mutation) in the GBA gene. (raredisease.net)
Both parents have to carry and pass on the mutation for their baby to develop Gaucher disease. (raredisease.net)

A new pharmaceutical podcast putting health heroes in the spotlight debuts in the runup to Rare Diseases Day 2020 with an instalment focusing on Gaucher disease. (pharmaphorum.com)

FDA Clears Eliglustat (Cerdelga) for Gaucher Disease. (medscape.com)

Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)

It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. (wikipedia.org)
Beutler E. Lysosomal storage diseases: natural history and ethical and economic aspects. (medscape.com)
Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)

None had a history of heart disease, previous substrate reduction therapy, or splenectomy. (medscape.com)

SRTs are not to be used in children and teenagers, people who are pregnant or breastfeeding, many people 65 and older, and people with severe kidney or liver disease. (raredisease.net)

In Gaucher disease, the enzyme is unable to function correctly and glucocerebroside accumulates. (wikipedia.org)
Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. (medscape.com)
Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells. (msdmanuals.com)
6. Ilan Y, Elstein D, Zimran A. Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent. (ejournals.ca)

The factors that contribute to neurologic involvement in patients with types 2 and 3 disease are still unknown but may be related to the accumulation of a cytotoxic glycolipid, glucosylsphingosine, in the brain due to the severe deficiency of glucocerebrosidase activity or to neuroinflammation. (medscape.com)
Gaucher disease stems from an enzyme deficiency that prevents the breakdown of certain fats in the body. (blogspot.com)

Through this sphingolipidosis (lysosomal storage disease) there can be found a accumulation of sphingolipids in cells, that leads to a morbid impact on the body. (tu-muenchen.de)
Through this sphingolipidosis (lysosomal storage disease) there can be found a accumulation of sphingolipids in cells. (tu-muenchen.de)
Accumulation of Gaucher cells in the perivascular spaces in the brain causes gliosis in the neuronopathic forms. (msdmanuals.com)

How do I get biochemical testing for Gaucher? (thinkgenetic.com)

Her competitive spirit, cheery but no-nonsense attitude, and supportive family help her through her toughest days with Gaucher disease, which can bring fatigue and often debilitating bone pain. (avrobio.com)
Progressive infiltration of Gaucher cells in the bone marrow may lead to thinning of the cortex, pathologic fractures, bone pain, bony infarcts, and osteopenia. (medscape.com)

The disease is caused by a defect in the housekeeping gene for lysosomal glucocerebrosidase (also known as beta-glucosidase, EC 3.2.1.45, PDB: 1OGS) on the first chromosome (1q22). (wikipedia.org)

We're looking at five different products that have been approved by the FDA, which is pretty impressive in the grand scheme of genetic diseases. (medscape.com)
Beyond formal educational and outreach programs aimed at increasing awareness of rare genetic diseases like Gaucher disease, new technologies are helping fill the knowledge gaps that exist for both patients and healthcare providers. (gaucherdisease.org)
The company's mission is to use artificial intelligence solutions to help individuals living with genetic diseases - including Gaucher disease - receive accurate healthcare information that leads to a faster diagnosis. (gaucherdisease.org)
We are developing ThinkGenetic SymptomMatcher to shorten the diagnostic journey for people with genetic diseases," explains Babu. (gaucherdisease.org)
SymptomMatcher users progress through an online guided module that captures and identifies the hallmark signs of different genetic diseases. (gaucherdisease.org)

If both parents are carriers, the chance of the disease is one in four, or 25%, with each pregnancy for an affected child. (wikipedia.org)
Carriers do not have the disease, but they may pass the gene to their children. (gaucherdiseaseplatform.org)
Genetic testing is done to identify carriers for Gaucher disease. (thinkgenetic.com)

Gaucher disease and pregnancy. (medscape.com)
That means that if both parents carry the defect gene, their child (in each pregnancy) will be affected (i.e. become the disease) with 1:4 chance. (tu-muenchen.de)

Conclusions Establishing a population-based cohort of patients with GD is essential to understanding disease progression and management. (bmj.com)

Duchenne muscular dystrophy, a condition that affects mostly boys and men, is a genetic disease that causes loss of muscle over time. (everydayhealth.com)
The disease affects males and females equally. (nih.gov)

Dr. Timothy M. Cox of Addenbrooke's Hospital Cambridge, U.K., an expert in metabolic diseases, told Reuters Health by email, "While the ICGG Registry is comprehensive, like nearly all company registries (it has) are 'holes' and 'gaps. (medscape.com)

Centers for Disease Control and Prevention. (cdc.gov)

There are three subtypes of Gaucher disease. (avrobio.com)

3. Nalysnyk L, Rotella P, Simeone JC, Hamed A, Weinreb N. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. (ejournals.ca)

The disease is best characterized as a continuum of phenotypes. (medscape.com)
The disease is characterized by a continuum of phenotypes. (medscape.com)

As a result, people living with Gaucher disease often undergo unnecessary diagnostic procedures and potentially harmful treatments aimed at other illnesses and ailments. (gaucherdisease.org)

The Gaucher Community Alliance is premiering its new video campaign to raise awareness about Gaucher disease during October's Gaucher Awareness Month. (lysosomaldiseasenetwork.org)

Gaucher disease is a rare, inherited disorder. (medlineplus.gov)
Understanding the impact of a rare disease - the Health Hero. (pharmaphorum.com)
US and European regulators want to promote the development of drugs for paediatric Gaucher disease, moves which could also apply to other rare diseases in children. (pharmaphorum.com)
Gaucher disease is a rare inherited condition, affecting only one person out of 40,000 people in the general population. (gaucherdisease.org)
purchased by Sanofi last year for a huge amount and they also create drugs that treat other rare diseases. (blogspot.com)
WASHINGTON (Reuters) - U.S. drug regulators gave the nod on Tuesday to Protalix Biotherapeutics Inc and Pfizer Inc's experimental biotech drug for a form of the rare genetic disease Gaucher. (blogspot.com)
GD is a rare, inherited and unique lysosomal storage disorder and how you manage the treatment of your GD patients is reflected in the significant individual differences associated with this disease. (gaucherdiseaseplatform.org)
Gaucher (go-SHAY) disease is a rare, inherited genetic disorder . (raredisease.net)
While Gaucher disease is rare, it is one of the most common of what are called lysosomal storage disorders. (raredisease.net)
The Lysosomal Disease Network (U54NS065768) is a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), the National Institute of Neurological Disorders and Stroke (NINDS) and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). (lysosomaldiseasenetwork.org)
BACKGROUND: The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5-87 years with Gaucher disease in the United Kingdom-an ultra-rare genetic disorder. (ox.ac.uk)
G aucher's disease (GD) is a rare lysosomal storage disease characterised by visceromegalies, growth retardation and skeletal and neurological abnormalities. (fundacionareces.es)
1. Marques ARA, Saftig P. Lysosomal storage disorders - challenges, concepts and avenues for therapy: beyond rare diseases. (ejournals.ca)

Here, we show that modulating the receptor-interacting protein kinase-3 (Ripk3) pathway markedly improves neurological and systemic disease in a mouse model of GD. (ox.ac.uk)
9. Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. (ejournals.ca)

People with Gaucher disease7

Called Gaucher cells2

Gaucher's28

Mutations6

Types of Gaucher disease2

Therapy for Gaucher disease4

Diagnosis of Gaucher Disease2

Neuronopathic Gaucher disease1

Characteristic Gaucher cells2

Parkinson's2

Resemble crumpled-up paper1

Autosomal recessive3

Symptoms19

Acute3

Enzyme glucocerebrosidase2

Spleen8

Complications4

Type29

Manifestations1

Mutation7

20201

Eliglustat1

Lipid1

Lysosomal storage3

Substrate reduction therapy1

Liver1

Glucocerebroside4

Deficiency2

Accumulation3

Biochemical1

Bone2

Housekeeping gene1

Genetic diseases5

Carriers3

Pregnancy2

Progression1

Affects2

Metabolic1

Centers for Diseas1

Subtypes1

Epidemiology1

Phenotypes2

Unnecessary1

Awareness1

Rare13

Neurological2