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…
Category: Genetics
All about genetic conditions, genes, chromosomes, and more!
MBL2 gene
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
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…
CHRNG gene
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…
What are some of the challenges facing precision medicine and the Precision Medicine Initiative
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…
RYR2 gene
The RYR2 gene, also known as the Ryanodine receptor 2 gene, is a gene that encodes for the ryanodine receptor 2 protein. Mutations in this gene can lead to various diseases and conditions, including arrhythmogenic…
TAP1 gene
The TAP1 gene, also known as the Transporter Associated with Antigen Processing 1 gene, is a genetic variant that is related to a number of diseases and conditions. The gene is part of a complex…
Tay-Sachs disease
Tay-Sachs disease, also known as GM2 gangliosidosis, is a rare genetic condition that affects the nervous system. It is one of several forms of lysosomal storage diseases caused by the loss of function of certain…
Cyclic vomiting syndrome
Cyclic Vomiting Syndrome (CVS) is a rare disorder characterized by episodes of severe vomiting and nausea. This condition predominantly affects children, but it can also persist into adulthood. The exact cause of CVS remains unknown,…
GRHPR gene
GRHPR is a gene that encodes the enzyme glyoxylate reductase/hydroxypyruvate reductase, which is primarily expressed in the kidney. The GRHPR gene plays a crucial role in the metabolism of glyoxylate and hydroxypyruvate, by converting them…