Category Genetics

The BIN1 gene, also known as the Bridging Integrator 1 gene, is a gene that plays a crucial role in the health and functioning of muscles. Mutations in this gene have been found to be linked to various genetic conditions,…

Understanding your family’s health history can provide valuable information about your own health and help you make informed decisions about your healthcare. Additionally, knowing your family health history can help healthcare providers identify and manage any potential risks or conditions…

Autoimmune Addison disease is a rare and complex disorder in which the body’s immune system mistakenly attacks the adrenal glands. The adrenal glands play a critical role in producing hormones that regulate various bodily functions, including the body’s response to…

Kabuki syndrome, also known as Kabuki makeup syndrome, is a rare genetic condition that is caused by variants in genes associated with histone methylation. It has been identified as one of the causes of intellectual disability and developmental delay in…

The recent advances in genetic research have opened up new possibilities for medical treatments. Gene therapy is one such treatment that holds great promise for treating various genetic disorders and related conditions. However, the safety of gene therapy is a…

Juvenile myoclonic epilepsy (JME) is a rare genetic condition that is identified by its association with myoclonic seizures. It is one of the most common forms of generalized epilepsy and has been extensively studied by researchers. Scientific articles have provided…

Adenosine monophosphate deaminase deficiency is a rare genetic condition associated with the ADAMI gene. It is also known as myoadenylate deaminase deficiency. This condition affects the muscles and results in exercise intolerance. Patients with adenosine monophosphate deaminase deficiency experience muscle…

The TTPA gene, also known as the alpha-tocopherol transfer protein gene, is a genetic variant that is associated with deficiencies in vitamin E transport and function. Vitamin E is an essential nutrient that plays a crucial role in protecting cells…

The SLC34A1 gene, also known as sodium-phosphate transporter 2A (NAPI-IIA) or sodium-dependent phosphate transport protein 2A (Pit-2), is a scientific term used to describe a protein-coding gene that is responsible for the regulation of mineral homeostasis in humans. Mutations in…

Saul-Wilson syndrome is a rare genetic condition with complex inheritance. It is associated with altered function of genes that cause a variety of clinical features. The syndrome is characterized by craniofacial abnormalities, intellectual disability, scalp defects, and other anomalies. The…