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X-linked Chondrodysplasia Punctata 2 is a rare genetic condition that affects newborns. It is often inherited in an X-linked pattern, meaning that it is more common in males. This condition is typically present at birth…

The PGK1 gene is responsible for encoding the phosphoglycerate kinase enzyme, which plays a crucial role in the glycolysis pathway. This pathway is responsible for converting glucose into energy in the form of ATP. Phosphoglycerate…

The HNF1A gene, also known as the HNF1 homeobox A gene, is responsible for coding a transcription factor that plays a crucial role in the regulation of gene expression. This gene has been linked to…

CASK-related intellectual disability is a rare form of intellectual disability that is caused by mutations in the CASK gene. The CASK gene provides instructions for making a protein that is essential for normal brain development…

The ARMS2 gene, also known as the age-related macular degeneration susceptibility 2 gene, is a gene that is associated with age-related macular degeneration (AMD). AMD is a common disease that affects the macula, the central…

The MBL2 gene, also known as the Mannose-Binding Lectin 2 gene, is a genetic variant that plays a crucial role in the immune system. This gene provides important information for the health of individuals and…

Dopa-responsive dystonia, also known as dopa-responsive dystonia or DRD, is a rare neurological condition that is primarily inherited through genetic factors. In most cases, this condition is caused by a mutation or a deletion in…

The CHRNG gene is a genetic component that plays a significant role in various scientific and medical studies. It is one of the many genes that have been identified and studied extensively as a result…

Precision medicine is a medical approach that takes into account individual variability in genes, environment, and lifestyle when developing tailored treatment plans. It aims to provide more accurate diagnoses, deliver personalized treatment options, and improve…