Expert

Expert

Gilbert syndrome

Gilbert syndrome, also known as Gilbert’s syndrome or Gilbert’s disease, is a genetic condition that affects the liver’s ability to process bilirubin. Bilirubin is a yellow pigment that is produced when red blood cells break down. Normally, the liver filters…

VCAN gene

Variant Call ANalysis (VCAN) gene, also known as versican, is a gene that plays a crucial role in various biological processes. It is involved in the control of cell adhesion, proliferation, and migration, as well as in the production of…

Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the nerve cells of the brain. It is named after the physicians Friedrich Pelizaeus and Ludwig Merzbacher, who first described the disease in the 19th century. PMD is caused by…

Opioid addiction

Opioid addiction is a chronic disease that affects millions of people worldwide. It is a condition where people become dependent on opioids, a class of drugs that includes prescription pain relievers like oxycodone, hydrocodone, and fentanyl, as well as illegal…

SCN9A gene

The SCN9A gene is a gene that encodes for the α-subunit of the Nav1.7 voltage-gated sodium channel. It plays a crucial role in the regulation of pain and is associated with various conditions and disorders, including paroxysmal extreme pain disorder,…

Crohn’s disease

Crohn’s disease is a chronic inflammatory condition of the intestine, which can affect any part of the gastrointestinal tract from the mouth to the anus. It is characterized by inflammation and thickening of the bowel walls, leading to a range…

Familial glucocorticoid deficiency

Familial glucocorticoid deficiency is a rare condition characterized by the failure of the adrenal gland to produce glucocorticoids, which are hormones that help regulate metabolism and respond to stress. This condition is caused by mutations in specific genes, including the…

MAOA gene

The MAOA gene, also known as monoamine oxidase A, is a gene that codes for the production of an enzyme called monoamine oxidase. This enzyme plays a crucial role in the breakdown of various monoamine neurotransmitters, including dopamine, serotonin, and…

X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder that affects the nervous system and adrenal glands. It is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in the body. X-ALD primarily…