Keratoconus is a rare genetic condition that affects the corneal structure, causing it to thin and gradually develop a cone-like shape. This condition has been linked to multiple genes, and studies have shown that it can be inherited in a…
Trichorhinophalangeal syndrome type II, also known as TRPS II, is a rare genetic condition that affects multiple parts of the body. It is characterized by long, thin fingers and toes, a distinctive facial appearance, and abnormalities in the hair and…
The question of whether genes can be patented has been a topic of much debate and controversy in the field of genetic testing and sequencing. Patents, which grant exclusive ownership rights for an invention or discovery, have traditionally been utilized…
The ADNP gene, also known as Activity-dependent neuroprotector homeobox protein, is a gene that plays an important role in brain development and functioning. It is associated with a spectrum of neurodevelopmental disorders, including autism spectrum disorder (ASD). The ADNP gene…
The GLB1 gene, also known as the beta-galactosidase-1 gene, is responsible for coding the enzyme known as beta-galactosidase. This enzyme is involved in the breakdown of certain complex molecules called glycolipids, specifically gangliosides. Mutations in the GLB1 gene can lead…
The SLC6A3 gene, also known as the dopamine transporter gene, provides instructions for making a protein called the dopamine transporter. This protein is responsible for the reuptake of dopamine from the synapse, a small gap between neurons, back into the…
Wilson disease, also known as hepatolenticular degeneration, is a rare inherited condition characterized by the accumulation of copper in various tissues of the body. It is caused by mutations in the ATP7B gene, which encodes a copper-transporting protein. This protein…
10q26 deletion syndrome is a rare genetic condition that occurs when a small piece of genetic material on the long arm of chromosome 10 is missing. This condition is also known as 10qter deletion syndrome, as the deletion occurs on…
The LDHA gene, also known as lactate dehydrogenase A, is one of the genes involved in the production of the enzyme variant called lactate dehydrogenase. This enzyme is responsible for the conversion of lactate to pyruvate, an essential step in…
Precision medicine, also known as personalized medicine, is a new approach to healthcare that takes into account an individual’s specific genetic makeup, environment, and lifestyle. This approach allows healthcare providers to develop targeted treatments and prevention strategies that are tailored…