Bohring-Opitz syndrome is a rare genetic condition that affects the development of various tissues and nerves in the body. It is associated with facial abnormalities, developmental delays, and intellectual disability. The syndrome is caused by alterations in a gene called…
A Gastrointestinal Stromal Tumor (GIST) is a rare cellular tumor that can develop in the gastrointestinal tract. These tumors are usually found in the stomach or small intestine, but they can occur anywhere along the digestive tract. GISTs are caused…
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…
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…
Noonan syndrome with multiple lentigines (NSML), also known as LEOPARD syndrome, is a rare genetic disorder that affects multiple systems in the body. NSML was first described by three physicians in 1963, and it was given the name LEOPARD as…
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).…
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…
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,…
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…
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…