BIONEUR Information

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 marketing by the US-FDA and/or the EU-EMA. In addition there are about 2,000 clinical trials conducted with FDA and/or EMA approved orphan designated investigational drugs. The bad news is that regardless of how many treatments are available today or will be in the near future, patients who need these new therapies may never benefit from these if patients can’t get an accurate diagnosis to begin with! It is impossible for physicians to be an expert in all 7,000 rare diseases. Reason for which many physicians use the internet in search of the missing links. The fact that this diagnostic odyssey still exists illustrates that current online symptom checker portals provide insufficient information physicians require as part of their process of differential diagnosis of patients who suffer from a rare disease. For more information about the solution we are developing to address and solve this serious dilemma, please visit www.bioneur.com.