Category Genetics

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…

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…

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…

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…

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…

Bipolar disorder

Bipolar disorder, also known as manic-depressive illness, is a mental condition characterized by extreme mood swings. Individuals with bipolar disorder experience episodes of mania and depression, which can significantly impact their daily lives and relationships. Research studies suggest that bipolar…

Amish lethal microcephaly

Amish lethal microcephaly is a rare condition that occurs with a high frequency in the Amish population. This genetic disorder is characterized by severe microcephaly, which is an abnormal smallness of the head. The condition manifests itself at birth and…

PDGFRB-associated chronic eosinophilic leukemia

PDGFRB-associated chronic eosinophilic leukemia, also known as myeloproliferative neoplasms (MPN), is a rare chronic condition characterized by increased production of abnormal eosinophils. These eosinophils are white blood cells that play a role in the immune system’s response to allergies and…

Nonsyndromic paraganglioma

Nonsyndromic paragangliomas are rare tumors that generally appear in the head and neck. They are known to be associated with excess production of catecholamines, which are hormones that affect the nervous system. Paragangliomas are typically benign and slow-growing, but they…

VLDLR-associated cerebellar hypoplasia

VLDLR-associated cerebellar hypoplasia is a neurological condition that is associated with the VLDLR gene. The VLDLR gene provides instructions for making a protein that is necessary for the development of the nervous system, including the cerebellum. Cerebellar hypoplasia is a…