Children’s rare diseases and disease search

In the U.S., a condition is considered a rare disease if it affects fewer than 200,000 people nationwide at any given time.  The Office of Rare Diseases Research at the National Institutes of Health reports that there are approximately 7,000 rare diseases known today, and sometimes a diagnosis of a rare disease can take months or even years. Among them are approximately ten million children who are affected by a rare disease. Many rare children’s disease does not have a known treatment at this time for several reasons. Most of the clinical research studies do not address the specific pediatric populations, and children’s rare disease patients are few and located in various geographic areas.  Additionally, many rare diseases do not have a clear underlying cause.  This makes research in this year more critical.

The definition of children’s rare disease is that (A) the disease is a serious or life-threatening disease in which the serious or life-threatening manifestations primarily affect individuals aged from birth to 18 years, including age groups often called neonates, infants, children, and adolescents {and} (B) The disease is a rare disease or condition per US law definition.