Gaucher Disease: Rare Genetic Disorder Discovered in 1882 - Research Paper

Introduction

Gaucher is a disease that was discovered in 1882 by Philippe C. E. Gaucher when he was at the age of 23 years. He found the condition from a young girl of six years. Gauche disease is a rare genetic disorder of autosomal that is characterized by glucocerebroside deposition in the cells of the macrophage monocyte system. The condition can also be characterized by a lack of enough Lysosomal enzymes called glucocerebrosidase. The root cause of this disease is the genetic mutation of the GBA gene. The condition is mainly associated with particular organs of the body like the liver, spleen, and born marrow; the disease affects the number of hemoglobin present in the blood, and the ability of blood to clot is interfered with. The extent to which is a personal experience, the effect of this disease differs depending on the type and symptom of the disease. For example, a person with type 1 of the disease experience relatively mild sign like extrapyramidal, while the one with type 2 of the disease, experience more severe and dangerous symptoms like hydrops fetalis. This disease is sporadic to infect people; research shows that between 40,000 to 60,000 children being born every year, only 1 of them is liable to be attached by this kind of disease. Gaucher disease is most common among the Jewish people, specifically the Ashkenazi group; for example, out of every 800 births, one child is infected by this disease. Worldwide statistics of the people, who had the disease by 2013, were approximately 280 million people.

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There are three main types of Gaucher disease, which are type 1(alpha), type 2 (beta), and type 3. Type 1Gaucher Disease is the most common; it usually attacks the Ashkenazi Jews. It can also be called the non-neuronopathic Gaucher disease since it does not often affect the central nervous system, for example, the brain and spinal cord. However, it is associated with causing diseases such as liver cirrhosis and pulmonary hypertension, and it can attack both young people and adults. Types 2 and 3 Gaucher diseases are also called neuronopathic forms, because they mainly affect the central nervous system, with type 2 being the most severe neuronopathic form and usually causes the deaths of people two years of age. It is characterized by Hydrops Congenital ichthyosis, while type 3 is associated with Cardiac and Vascular calcifications. Some of the general characteristics of Gaucher disease include growth retardation, skeletal abnormalities, abdominal pain, and blood disorders. It can also lead to some problems like Parkinson's disease, obstetric and gynecological disorders, and some and cancers conditions like leukemia, lymphoma, and myeloma. People belonging to a particular ethnic group, for example, Ashkenazi Jews, Indians, and Italians, are at high risk of being affected by this disease. Also, two parents who are carriers of the disease can suffer the same.

This disease does not discriminate between men and women. Gaucher disease is accompanied by a situation where a person is faced with more than one disorder, hence putting the patient at the risk of complications or even death. It is advisable for the risk population, for example, Ashkenazi Jews, to be screened and their DNA testing during pregnancy to determine whether the child to be born is liable for being affected by the disease. This condition mostly affects the poor people since they cannot secure medication due to their low income; most people end up being paralyzed because the disease affects the skeletal system.

Preventing Gaucher disease, is not possible especially to the parents who are the carriers of the disease, although, there are various treatment that can be carried out to try and minimize the condition, for example, enzyme replacement therapy (ERT), which is usually done to repair the damaged tissues and enzymes, other treatment forms are, gene therapy, and substrate reduction therapy. These types of experiments and treatments help to reduce the glucocerebroside accumulation in the liver of patients by replacing the affected enzymes and tissues, with the functioning ones, thus eradicating the Gaucher Disease. This process of enzyme replacement was first approved by food and drug administration in 1991 in the United States. Patients with type 1 disease affecting the bone marrow usually undergo bone marrow transplant or gene therapy; this also helps to prevent a retroviral vector with a typical glucocerebrosidase DNA sequence. Substrate reduction therapy is a treatment administered commonly to patients with type 1 GD to reduce the work being done with the remaining functional cells. This treatment is typically administered orally, and it helps the patients by reducing the enlarged spleen and other body organs and strengthening bones.

The treatment of the disease is quite expensive, being that; it is not a common disease. The government spends a lot of money buying the equipment and drugs for the treatment of the disease with a projection of up to $ 193 billion for the developed countries. Also, patients spend a lot in the treatment of the disease, for example, the total cost of up to $ 300,000 annually.

Foods and Drugs Administration Act of 1983, created the orphanage drug act that aimed at cutting the tax on research for the disease. To encourage the production of the medicines for the disease by the researchers, since they had claimed that they were not getting enough compensation for manufacturing, a cure for such rare diseases as GD.

From the text, it is clear that Gaucher Disease is a sporadic disease that its leading cause is from within the body. It can be both non-neuronopathic and neuronopathic, and its treatment is primarily to the low-incomers. The disorders cause a lot of frustrations in life. Thus, this calls for more research and new ways to be invented to help curb and reduce the disease among the risk population.