Rare Genetic Diseases

Rare genetic diseases are disorders caused by unusual changes (mutations) in an individual’s genes, which are the instructions for our body’s development and function. These conditions are uncommon, affecting a small percentage of the population, and often result in health challenges or abnormal physical features. They can be inherited from parents or occur spontaneously. Because they are rare, diagnosing and researching these diseases can be challenging. Although each disease affects few people, collectively, rare genetic diseases impact millions worldwide, highlighting the importance of awareness, diagnosis, and ongoing medical research.