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Posted: January 18th, 2023
Rare genetic diseases
Rare genetic diseases, also known as orphan diseases, are a group of disorders that are caused by genetic mutations and affect a small portion of the population. These diseases often go undiagnosed and untreated due to their rarity and lack of research.
Cystic fibrosis (CF) is a rare genetic disorder that primarily affects the respiratory and digestive systems. It is caused by a genetic mutation in the CFTR gene, which encodes for the cystic fibrosis transmembrane conductance regulator protein. This mutation results in the production of thick, sticky mucus that clogs the airways and causes chronic respiratory infections. It also affects the pancreas, leading to difficulty in digesting Individuals with CF have a buildup of thick, sticky mucus in the lungs, which leads to chronic infections and difficulty breathing. It also affects the pancreas, causing difficulty in digesting food. CF is considered a rare disease, affecting about 1 in 3,500 individuals in the United States.
Another example of a rare genetic disease is sickle cell anemia. It is a genetic disorder caused by a mutation in the beta-globin gene, which leads to the production of abnormal hemoglobin. This causes red blood cells to become sickle-shaped, leading to blockages in blood vessels and a lack of oxygen to various organs. It is most common in individuals of African descent, but it also affects individuals of Hispanic, Mediterranean, and Middle Eastern descent.
Huntington’s disease (HD) is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the huntingtin gene, which leads to the production of abnormal huntingtin protein. This leads to the degeneration of nerve cells in the brain, causing movement problems, psychiatric symptoms, and cognitive decline. HD is considered a rare disease, affecting about 1 in 10,000 individuals worldwide.
There are many other rare genetic diseases such as Tay-Sachs disease, Fabry disease, and Gaucher disease, etc. These diseases often go undiagnosed and untreated due to their rarity and lack of research. However, advances in genetic testing and technology have allowed for earlier diagnosis and more targeted treatment for some of these diseases.
Rare genetic diseases are a group of disorders that are caused by genetic mutations and affect a small portion of the population. They often go undiagnosed and untreated due to their rarity and lack of research. Examples of rare genetic diseases include cystic fibrosis, sickle cell anemia, Huntington’s disease, and many others. However, advances in genetic testing and technology have allowed for earlier diagnosis and more targeted treatment for some of these diseases.
References:
Cystic Fibrosis Foundation. (n.d.). Cystic fibrosis statistics. Retrieved from https://www.cff.org/What-is-CF/Statistics/
National Human Genome Research Institute. (n.d.). Sickle cell anemia. Retrieved from https://www.genome.gov/genetic-disorders/Sickle-Cell-Anemia/
Huntington’s Disease Society of America. (n.d.). Huntington’s disease statistics. Retrieved from https://www.hdsa.org/what-is-hd/huntingtons-disease-statistics/
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