Precision medicine, also known as personalized medicine, is a new approach to healthcare that takes into account an individual’s specific genetic makeup, environment, and lifestyle. This approach allows healthcare providers to develop targeted treatments and prevention strategies that are tailored…
The LDHA gene, also known as lactate dehydrogenase A, is one of the genes involved in the production of the enzyme variant called lactate dehydrogenase. This enzyme is responsible for the conversion of lactate to pyruvate, an essential step in…
The C2 gene is a genetic component that is related to age-related macular degeneration (AMD) and other conditions. This gene is responsible for the production of a protein called C2, which is part of the complement system. The complement system…
Chromosome 8 is one of the 23 pairs of chromosomes in the human body. It is a normal part of the genome and carries genetic information that is essential for the development and function of the body’s cells. However, abnormalities…
The CA12 gene is one of the genes that encode carbonic anhydrases (CAs) in the human body. Carbonic anhydrases are a group of enzymes that play a crucial role in the regulation of acid-base balance in the body. These enzymes…
Neuroferritinopathy is a rare genetic disorder caused by mutations in the gene responsible for encoding ferritin, a protein that regulates iron levels in the brain. The condition is inherited in an autosomal dominant manner, meaning that a person needs to…
The PKD1 gene, also known as polycystin-1, is the primary gene responsible for the development of polycystic kidney disease (PKD). PKD is a common genetic disorder that affects the kidneys, causing the growth of numerous fluid-filled cysts that can lead…
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic condition that affects the mitochondria, which are responsible for producing energy in our cells. This condition can lead to a variety of symptoms and problems, including muscle weakness,…
The MLC1 gene is a key player in the development and health of an individual. Through various tests and research, scientists have uncovered important information about the changes and variants of this gene that are associated with certain health conditions.…
Hyperprolinemia is a rare genetic condition that is caused by a deficiency of the enzyme pyrroline-5-carboxylate dehydrogenase. This enzyme is responsible for breaking down the amino acid proline in the body. Without enough of this enzyme, proline builds up in…