Bioneur

rare diseases are often genetic, debilitating, progressive and/or life threatening and present with an unfamiliar combination of signs and symptoms which makes them for most physicians very difficult to diagnose! there are 7,000 rare diseases that affect about 350 million people worldwide. <1% is diagnosed and an even smaller number is adequately treated. 75% of those affected are children. 30% of them will not live to see their 5th birthday. "a significant number of patients had waited 20, 30, even 40 years. some wrote that, as adults well into middle age, they finally learned that the disabling symptoms they had experienced all their lives resulted from a disease present at birth". there is significant lack of knowledge and awareness about these rare diseases and the reason that this "diagnostic odyssey in rare disorders™" continues to exist for more than 30 years. the good news is that for about 500 of these rare diseases innovative treatments have been developed and approved for ma