DOCK8 immunodeficiency syndrome is a rare genetic disease that impairs the immune system. It is characterized by recurrent infections, particularly in the respiratory tract, and is associated with a high frequency of allergies and autoimmune conditions. The syndrome is caused…
Fibromyalgia is a complex condition that affects many people, especially women. It is characterized by chronic pain, fatigue, and tender points throughout the body. The exact causes of fibromyalgia are still unknown, but researchers believe that a combination of genetic…
Genetic disorders are medical conditions that result from alterations or mutations in an individual’s DNA. These disorders can be passed from one generation to the next through the inheritance of genetic information. If a genetic disorder runs in your family,…
The GPHN (Gephyrin) gene is a key scientific discovery in the field of genetics and molecular biology. It is associated with various disorders and plays a crucial role in the communication between neurons in the brain. The GPHN gene has…
The MTHFR gene, also known as Methylenetetrahydrofolate Reductase, is a gene that plays a key role in the body’s ability to process and metabolize certain nutrients. This gene produces an enzyme that is involved in the conversion of a molecule…
The CD40LG gene, also known as CD40 ligand, is a gene located on the X chromosome. It is involved in the immune system and plays a crucial role in activating B cells and promoting immunoglobulin class switching. Mutations in this…
The SLC19A2 gene, also known as Solute Carrier Family 19 Member 2, is a gene that is responsible for coding a protein involved in the transport of thiamine, a vitamin important for various biological processes. Changes in the SLC19A2 gene…
The SGSH gene, also known as the sulphamidase gene, is a gene that is associated with the development of Sanfilippo syndrome type IIIA. Sanfilippo syndrome is a group of inherited diseases that are caused by genetic changes in specific genes.…
The C19orf12 gene, also known as chromosome 19 open reading frame 12, is a mitochondrial gene that has been the focus of scientific research. It was first identified and described in articles published in the scientific journal Genet and is…
Abetalipoproteinemia is a rare genetic condition that is characterized by a deficiency in a protein called apolipoprotein B. This protein is responsible for the production and transport of lipoproteins, which are molecules that carry fats and fat-soluble vitamins in the…