GJB4 gene
The GJB4 gene, also known as the connexin 30.3 gene, provides instructions for making a protein called connexin 30.3. This protein is found in the skin and plays a role in the formation of gap junctions, which are channels that…
Category Genetics
PRICKLE1 gene
The PRICKLE1 gene is a gene listed in the Online Mendelian Inheritance in Man (OMIM) database. This gene is involved in the development and regulation of various health conditions, including ataxia, epilepsy, myoclonus, and progressive myoclonic epilepsy (PME). Studies have…
How does genetic testing in a research setting differ from clinical genetic testing
Genetic testing is the process of examining an individual’s DNA to identify variations in their genes that may be associated with certain health conditions or traits. This type of testing can be done in both research and clinical settings, but…
Anencephaly
Anencephaly is a rare condition that occurs during early development in which the neural tube, a structure that eventually forms the brain and spinal cord, fails to close completely. This results in the absence of a major portion of the…
Sporadic hemiplegic migraine
Sporadic hemiplegic migraine (SHM) is a rare form of migraine with aura that is characterized by temporary paralysis or weakness on one side of the body. This condition is different from other types of migraines because it is associated with…
NLRP7 gene
The NLRP7 gene, also known as the NALP7 gene, is a member of the interleukin-1 family of genes. It is related to other genes that are involved in regulating the immune system, such as the pyrin and NOD-like receptor (NLR)…
What does it mean if a disorder seems to run in my family
When certain disorders seem to run in a family, it often raises questions about the role of genetics in their development. Genetics is a branch of biology that deals with the study of genes, heredity, and variation in living organisms.…
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the ABCC6 gene, which is responsible for the production of an enzyme that helps regulate the flow of…
CHD2 gene
The CHD2 gene, also known as Chromodomain Helicase DNA Binding Protein 2, has been identified as a key contributor to a variety of health conditions. In recent years, research has linked mutations in the CHD2 gene to several neurological disorders,…
What are the different ways a genetic condition can be inherited
A genetic condition is a disorder or disease that is caused by changes or abnormalities in an individual’s DNA, genes, or chromosomes. There are several different ways in which a genetic condition can be inherited from one generation to the…