Genetic and rare diseases are conditions caused by variations or mutations in an individual's DNA. These mutations can occur spontaneously or be inherited from a parent and can affect many different parts of the body including the brain, heart, and muscles. The number of genetic and rare diseases is increasing daily, and many are still undiagnosed or misunderstood.
One well-known genetic disease is cystic fibrosis. This disease affects the lungs and digestive system and is caused by a mutation in the gene that controls salt transport in and out of cells. This leads to the production of thick, sticky mucus that clogs the airways, making it difficult to breathe. Another example of a genetic disease is sickle cell anemia, caused by a mutation in the gene that produces hemoglobin, a protein in red blood cells that carries oxygen to the body's tissues. The mutation causes the hemoglobin to form abnormal molecules, causing red blood cells to form a sickle shape, leading to blockages in small blood vessels, resulting in pain, organ damage, and other complications.
Rare diseases, on the other hand, are defined as conditions that affect a small percentage of the population. According to The Orphan Drug Act, a rare disease is a disease that affects fewer than 200,000 individuals in the United States. In some other parts of the world, a rare disease's rarity means refers to the lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. There are more than 7,000 rare diseases, many of which are genetic in nature, but it is important to note that not all genetic diseases are rare, and not all rare diseases are genetic in nature. An example of a rare disease is fibrodysplasia ossificans progressiva (FOP) characterized by the formation of bone in muscles, tendons, ligaments, and other connective tissues, causing restricted movement and eventually leading to a loss of mobility, often referred to as the Stoneman or Woodman syndrome. This condition is caused by genetic mutations, and currently, there is no cure for it.
Treatment and management of genetic and rare diseases can vary widely, depending on the specific condition. Some genetic diseases can be treated with medication or surgery, while others may require more extensive management, such as physical therapy or a special diet.
In fine, genetic and rare diseases are complex conditions that can have a significant impact on an individual's health and well-being. They are caused by mutations or variations in an individual's DNA and can affect many different body parts. Due to the infrequent occurrence of these diseases, the current clinical diagnosis process often fails to properly diagnose them, resulting in a high number of undiagnosed cases. With the advances in research, scientists hope to improve diagnosis, treatment, and care for people affected by these diseases.