Improving the Diagnosis, Management and Research in Rare and Genetic Disease

Rare disease is not that rare: Your chances of getting any one of them is 1/10, the same risk as getting Diabetes.
Over 500 Million people are affected by a rare or genetic disease worldwide, half of them are children, and 30% of them will die within the first 5 years of their life due to their disease.
On average, it takes 12-15 years from onset of symptoms to be diagnosed with one of the >10,000 currently known rare and genetic diseases, much longer for patients who reside in rural and underserved communities. Inability to access spcialty care leads to a diagnostic and therapeutic delay, causing preventable secondary comorbidities and earlier, much higher mortality rates (yes, even in Europe!).
Lack of early recognition, intervention and appropriate long term management places a significant burden on the healthcare system; Over half the direct medical cost in the US is generated by patients with a rare or genetic disease, even though they only represent a fraction of the total patient population.
Our project zebraMD aims to provide evidence based specialty care anywhere, right at the point of care, no matter the patient's zip code, while utilizing longitudinal clinical data models to help find new therapies for rare and genetic disease.