Science Webinars: rare disease diagnosis
In collaboration with AAAS / Science magazine
There are 7000 rare diseases that impact 1 in 11 Americans, 30 million patients in Europe and 225 million people globally. Less than 10% of patients with rare diseases receive a treatment and only 1% receive an approved treatment plan in Europe. Delivering effective treatments for rare diseases patients where the prevalence is low has been described as one of the major global health challenges for the 21st century.
One of the major challenges associated with rare diseases is failed and delayed diagnosis. Delayed diagnosis occurs because rare diseases are characterized by a broad diversity of symptoms that vary from disease to disease and from patient to patient suffering sometimes from the same disease. In isolation these symptoms can be very common leading to misdiagnoses. Therefore, there is a lengthy and burdensome path to diagnosis that take years on average. Oftentimes patients receive pointless treatments, unnecessary diagnostic tests and there is a heavy burden therefore on the health care system and most importantly on the lives and well-being of patients.
Early detection of rare genetic diseases would enable early intervention when available, effective follow-up and genetic counseling such as family planning. This would result potentially in an improved clinical outcome. The goal of this webinar series is to alert the scientific community to the challenges associated with detection of rare diseases.
These international webinars will engage the world’s leading scientists in this endeavor, raise research questions, address scientific methods and approaches and inform the wide scientific and public audience to the challenges associated with rare diseases detection.