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Archive - Mar 5, 2019

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NIH Hosts Rare Disease Day; Countries Around World Stage Similar Events Marking Significance of 7,000 Individually Rare Diseases That, When Taken Together, Afflict Over 400 Million People; Many Are Grievously Affected Children with Genetic Diseases

On Thursday, February 28, 2019, the US National Institutes of Health (NIH) hosted its ninth annual Rare Disease Day (RDD) event, which included a feature address b NIH Director Francis Collins, MD, PhD, and is held to raise awareness, report progress, and speed advances for patients afflicted by the estimated 7,000 “rare diseases” that exist throughout the world. Approximately 80 percent of these rare diseases are genetic in origin, with more than half affecting children, and many being life-threatening. Although rare when viewed individually, these diseases--such as giant axonal neuropathy (GAN) (50 affected families in world) which the little girl Amber (https://www.friendsatnih.org/hope-for-amber/) (https://childrensinn.org/amber/) in the photo has (see much larger version of this photo at end of story), Fabry disease (8,000 in US), Niemann-Pick Type C (2,200 in US), hemophilia (18,000 in US), ALS (Lou Gehrig’s disease) (20,000 in US), cystic fibrosis (30,000 in US), and sickle cell anemia (100,000 in US)-- affect an estimated 400 million people around the world. These numbers can be contrasted with those for some common diseases such as type 2 diabetes (21 million in US), Alzheimer’s (5.7 million in US), invasive breast cancer in women (predicted 270,000 new cases expected to be diagnosed in 2019 in US), malaria (212 million cases worldwide in 2015), and tuberculosis (2 billion infected worldwide). (Editor's Note: In the US, rare diseases are defined as those affecting 200,000 or fewer people in the country of over 325 million.)