Chromosome 8
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…
Edgar C. Johnson
Edgar C. Johnson is an Australian medical writer with a strong focus on public health and disease prevention. With years of experience in healthcare journalism, he is dedicated to providing clear, research-backed insights on medical advancements and wellness trends. Edgar’s work aims to empower readers with reliable information to make informed health decisions.
C2 gene
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…
Neuroferritinopathy
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…
CA12 gene
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…
PKD1 gene
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…
MLC1 gene
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.…
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
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,…
RS1 gene
The RS1 gene, also known as the retinoschisis 1 gene, is a genetic variant that plays a central role in the development of juvenile retinoschisis, an X-linked genetic disease affecting the retina. Numerous scientific articles have shed light on the…
Hyperprolinemia
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…
Genetic Conditions M
Genetic conditions are a group of disorders caused by changes in an individual’s genes or chromosomes. These conditions can affect various systems in the body and can lead to a wide range of symptoms and health problems. In this article,…