Bay Biosciences provides high-quality, fresh frozen biopsy tissue samples. FFPE tissue blocks with matched fresh, frozen sera (serum), plasma, peripheral blood mononuclear cells (PBMC) bio-fluids from patients diagnosed with Gaucher’s disease.
The sera (serum), plasma and PBMC biofluid specimens are processed from Gaucher’s disease patient’s peripheral whole-blood using customized collection and processing protocols.
Biopsy tissue and matched biofluid samples are collected from unique patients diagnosed with Gaucher’s disease and are provided to a valued pharmaceutical customer for research, diagnostics, discovery and drug development.
Sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluids are processed from Gaucher’s disease patients peripheral whole-blood using customized collection and processing protocols.
Gaucher’s Disease Overview
Gaucher disease is an inherited (genetic) condition that is due to a deficiency in the enzyme glucocerebrosidase (also known as GCase). This is an enzyme in the body that break downs a fatty chemical called glucocerebroside.
Deficiencies of this enzyme lead to accumulation of GlcCer and the development of the lysosomal storage disease known as Gaucher’s disease.
The Gaucher cells are normal scavenger cells known as macrophages that becomes unprocessed Gaucher cells usually accumulate in the liver, spleen and bone marrow, which causes inflammation and organ dysfunction.
Gaucher cells primarily cells buildup of certain fatty substances in certain organs, particularly the spleen and liver. This causes these organs to enlarge and can affect their function.
Gaucher disease is inherited in an autosomal recessive manner. The most common type of Gaucher disease is type-1, and this type typically does not affect the nervous system.
Type-2 Gaucher disease and perinatal lethal Gaucher disease are rare and severe forms of the disease.
How Diseases are Inherited
Genetic disorders are typically inherited (passed down) in either a dominant or recessive manner. We each have two copies of every gene on our 22 numbered chromosomes.
In addition, females have two copies of all the genes on the X chromosome, whereas males have one copy of the X chromosome genes and one copy of the Y chromosome genes.
When a disorder is dominant, the disease can occur when there are DNA mistakes in only one of the two gene copies. This means that if a parent has the DNA change, there is a 50-50 chance that it will be passed on to each child.
When a disorder is recessive, there must be mistakes in both copies of the gene for the disorder to occur. This means that both parents must carry at least one copy of the specific gene change in order to produce an affected child.
Types of Genetic Disorders
There are a number of types of genetic inheritance and associated disorders. For example, single gene or monogenetic inheritance disorders include:
- Cystic fibrosis
- Huntington’s disease
- Iron overload (hemochromatosis)
- Marfan syndrome
- Sickle cell anemia
Another type of genetic inheritance is multifactorial inheritance disorders, for example:
Inheritance of Gaucher’s Disease
Gaucher disease is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the defective gene in order for a child to be affected.
Prevalence of Gaucher’s Disease
- In people of Ashkenazi Jewish descent Type 1 Gaucher disease is more common, and affects 1 out of every 855 people.
- About 1 out of every 15 people of Ashkenazi Jewish descent are thought to be carriers of the genetic mutation responsible for Gaucher disease.
- The other types of Gaucher disease do not occur more frequently in people of Ashkenazi Jewish heritage.
- In the non-Jewish population, Gaucher disease affects 1 out of every 40,000 people.
Types of Gaucher’s Disease
Type-1 Gaucher Disease
The most common form of the condition is type-1 Gaucher disease. About 90% of patients with the condition have this type.
The signs and symptoms of this type can vary in their extent of severity. The symptoms can appear in childhood or may be delayed until adulthood.
The brain and spinal cord, or central nervous system (CNS), are typically not affected by the disease, so this type is sometimes referred to as non-neuronopathic, meaning that the condition does not affect nerve cells.
Type-2 Gaucher Disease (acute neuronopathic form)
This rare type of Gaucher disease affects the nervous system and is termed neuronopathic Gaucher disease.
Signs and symptoms include seizures, eye movement problems, and brain damage. Type 2 Gaucher disease is very severe and typically leads to life-threatening medical problems that begin in infancy.
Type-3 Gaucher Disease (chronic neuronopathic form)
Like Type-2 Gaucher disease, type-3 Gaucher is a neuronopathic form of Gaucher disease that affects the nervous system, but symptoms do not progress as rapidly as in Type-2. The signs and symptoms of Type-3 Gaucher disease may appear in infancy or later in childhood.
Perinatal Lethal Gaucher Disease
Perinatal lethal Gaucher disease is the most severe form of the condition. With this type, the life-threatening conditions can appear before birth.
There may be excessive swelling and fluid accumulation in the fetus (hydrops fetalis) prior to birth. Other features can include severe neurological disturbances, abnormal facial features, hepatosplenomegaly, and dry or scaly skin. Most infants with this form of the condition survive only a few days after birth.
Cardiovascular Gaucher Disease
This type of Gaucher disease, considered a rare subgroup of type-3 disease, primarily affects the heart, leading to calcification or hardening of the heart valves. Sometimes, symptoms and signs of other types of Gaucher disease may also be present.
Signs and Symptoms of Gaucher’s Disease
Following are the main signs and symptoms of Gaucher’s disease:
- Anemia (low blood cell count)
- Severe bone pain (chance of easily broken bones)
- Bleeding that is difficult to stop
- Eye movement disorders
- Fever
- Fatigue (tiredness)
- Enlarged spleen and (hepatosplenomegaly)
- Enlarged liver
- Lung problems
- Low platelet counts that can lead to easy bruising
- Yellow spots on the eyes
Patients with type 1 Gaucher disease usually first notice painless enlargement of the spleen, anemia, or bleeding and bruising due to low platelet count.
The enlargement of the spleen may become severe and may limit a child’s growth due to the energy required to sustain the enlarging spleen. An enlarged liver and abnormal liver function tests are also characteristic signs.
Skeletal involvement by Gaucher disease is common and can take the form of bone pain, fractures of bone, and a defect of the thigh bone (femur).
Bay Biosciences is a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens and human bio-fluid collections.
Samples available are cancer (tumor) tissue, cancer serum, cancer plasma cancer PBMC and human tissue samples from most other therapeutic areas and diseases.
Bay Biosciences maintains and manages its own bio-repository, human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors available in all formats and types.
Our biobank procures and stores fully consented, deidentified and institutional review boards (IRB) approved human tissue samples and matched controls.
All our human tissue collections, human specimens and human bio-fluids are provided with detailed samples associated patient’s clinical data.
This critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers and genetic information.
Patient’s data is extremely valuable for researchers and is used to help identify new effective treatments (drug discovery & development) in oncology, other therapeutic areas and diseases.
Bay Biosciences banks wide variety of human tissue samples and biological samples including cryogenically preserved at – 80°C.
Including fresh frozen tissue samples, tumor tissue samples, FFPE’s, tissue slides, with matching human bio-fluids, whole blood and blood derived products such as serum, plasma and PBMC’s.
Bay Biosciences is a global leader in collecting and providing human tissue samples according to the researchers specified requirements and customized, tailor-made collection protocols.
Please contact us anytime to discuss your special research projects and customized human tissue sample requirements.
Bay Biosciences provides human tissue samples (human specimens) from diseased and normal healthy donors which includes:
- Peripheral whole-blood,
- Amniotic fluid
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- Sputum
- Pleural effusion
- Cerebrospinal fluid (CSF)
- Serum (sera)
- Plasma
- Peripheral blood mononuclear cells (PBMC’s)
- Saliva
- Buffy coat
- Urine
- Stool samples
- Aqueous humor
- Vitreous humor
- Kidney stones (renal calculi)
- Other bodily fluids from most diseases including cancer.
We can also procure most human bio-specimens and can-do special collections and requests of human samples that are difficult to find. All our human tissue samples are procured through IRB approved clinical protocols and procedures.
In addition to the standard processing protocols Bay Biosciences can also provide human plasma, serum, PBMC bio-fluid samples using custom processing protocols, you can buy donor specific sample collections in higher volumes and specified sample aliquots from us.
Bay Biosciences also provides human samples from normal healthy donors, volunteers, for controls and clinical research, contact us Now.
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