Rare Disease Day is celebrated on July 27th each year and is a day for people with rare diseases to share their stories and learn how to help others. Rare Disease Day was created in 2004 by the National Organization for Rare Disorders (NORD) as a way to increase awareness of rare diseases, reduce misunderstanding, and improve medical care. In 2011, NORD began collaborating with the International Rare Diseases Research Consortium (IRDR) to bring attention the importance of rare disease research.
Why It’s Important
The World Health Organization estimates that there are more than 1.2 million new cases of rare diseases worldwide each year, although only 25% of these patients receive appropriate medical care or rare diseases treatments hong kong due to lack of knowledge or resources. Rare diseases are those that affect fewer than 1 in 2000 people and account for a large proportion of human suffering.
What is a Rare Disease?
Benign Neonatal Progeroid Syndrome (BNPS) is a rare disease that affects one in every 800,000 live births. It affects both males and females equally and brings a range of symptoms including growth failure, loss of muscle mass, dwarfism, low body fat, wrinkled skin, and atrophied limbs. BNPS also causes early onset diabetes mellitus as well as kidney failure. There are currently no treatments or cures for BNPS; however, researchers have learned more about the disease through identifying the specific genetic mutations that cause this disorder. Researchers are making progress towards finding a drug that can slow or stop the disease’s progression, but much more needs to be done.
1.1 Million People with a Rare Disease
There are more than 1.1 million people in the United States with a rare disease. While some of these individuals may have multiple ailments, many are only dealing with one disorder at any given time.
In addition to the 1.1 million people living with a rare disease, there are an estimated 100,000 children affected by the approximately 22 rare diseases that occur during childhood. Approximately 70% of babies born in America have been affected by a rare disorder prior to birth, regardless of whether they survive or not.
Benefits of Research
The US National Institutes of Health Rare Diseases Initiatives brings hope to individuals dealing with rare diseases. The NIH Rare Disease Initiatives has awarded more than $1 billion in funding to more than 3000 research projects. These research grants are dedicated to finding rare diseases gene treatments hong kong and cures for approximately 7,000 rare diseases.
Role of Patients in Research Projects
In the future, patients could be directly involved in the design and conduct of pediatric clinical trials, especially trials that are focused on interventions to treat orphan drugs.