What does GARD mean in RESEARCH

GARD is a national program of the National Institutes of Health (NIH) that aims to enhance health outcomes for individuals with genetic and rare diseases by providing free educational resources, connecting healthcare professionals, and supporting research efforts.

Genetic diseases are caused by variations or mutations in the DNA of an individual. These variations can be inherited from parents or occur spontaneously during cell division. Examples of genetic diseases include cystic fibrosis, sickle cell anemia, and Huntington's disease.

Rare diseases are defined as conditions that affect a small number of people within a specific population. Generally, a disease is considered rare if it affects less than 200,000 individuals in the United States. Examples of rare diseases include Pompe disease, Gaucher disease, and Fabry disease.

Genetic and rare diseases are collectively common, affecting millions of people worldwide. It is estimated that more than 25 million Americans have a genetic disorder, while rare diseases affect approximately 25% of the population.

The symptoms of genetic and rare diseases vary widely depending on the specific condition. Symptoms can range from mild to severe and may affect any part of the body. Some common symptoms include physical abnormalities, developmental delays, intellectual disabilities, and organ dysfunction.

Diagnosis of genetic and rare diseases can be challenging due to their rarity and diverse symptoms. Diagnosis often involves a combination of physical examinations, family history, genetic testing, and specialized medical imaging techniques.

Treatment options for genetic and rare diseases vary depending on the specific condition. Some diseases have curative treatments, while others can only be managed to alleviate symptoms and improve quality of life. Research efforts are ongoing to develop new and effective treatments for these conditions.