Gene therapy, a medical technique that involves modifying an individual’s genome, has raised a number of ethical issues. These issues are rooted in the potential for gene therapy to alter the genetic makeup of future generations, as well as the…
5q313 microdeletion syndrome, also known as pura gene syndrome, is a rare chromosomal disorder that affects the 5q31.3 region of the chromosome. It is caused by the deletion of a small piece of genetic material, resulting in the loss of…
Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but severe skin diseases that can cause extensive damage to the skin and mucous membranes. These conditions fall within a spectrum of diseases known as Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN).…
The MESP2 gene, also known as the mesoderm posterior 2 homolog (Drosophila), is a genetic factor that has been associated with various conditions and diseases. It is considered to be an essential gene for the proper development of the skeleton,…
Precision medicine and personalized medicine are two topics that often come up in discussions about the future of healthcare. While they are related, there are some key differences between the two concepts. Precision medicine is a field of medicine that…
Focal dermal hypoplasia, also known as Goltz syndrome, is a rare genetic condition that affects multiple body systems. It is caused by mutations in a gene called PORCN, which is responsible for producing a protein needed for the normal development…
The ACSF3 gene is a gene that codes for an enzyme involved in the metabolism of fatty acids. It is one of many genes that have been identified through sequencing and databases such as PubMed. Mutations in the ACSF3 gene…
The COL1A2 gene is a gene that encodes for the type I collagen alpha 2 chain. It is responsible for the assembly of collagen, a protein found in connective tissues. Changes in this gene can result in various conditions, including…
The ATP2A2 gene, also known as the CA2-ATPase gene, plays a crucial role in the normal functioning of sarcoendoplasmic reticulum calcium ATPase pumps. This gene is responsible for producing a protein that is essential for maintaining the balance of calcium…
Lysinuric protein intolerance (LPI) is a rare autosomal recessive genetic disorder caused by mutations in the SLC7A7 gene, which codes for the y+LAT-1 protein. This condition is characterized by impaired transport of lysine, arginine, and ornithine across the cell membrane,…