Rare Disease Diagnostics Summit

“Reducing the Diagnostic Odyssey to Improve Patient Outcomes”

Boston, Massachusetts

The diagnostic component of genetic rare diseases must be addressed. More than 350 million people are living with a rare disease. On average it takes 7 different consultations before an initial referral to a clinical geneticist and a minimum of 5 years to completely diagnose a patient, with 70-90% of cases going undiagnosed. With roughly 7,000 known rare diseases, 80% have a genetic crisis.

The numbers are clear, and it’s time to act now.

This event will bring together drug companies, patient advocacies, diagnostic providers, insurance companies, and other key stakeholders to facilitate earlier and better diagnosis of rare genetic diseases.

This event will enable partnerships between diagnostic and pharma companies for companion diagnostics, provide a platform for industry to build the much-needed relationships with patient advocacies, and facilitate knowledge-sharing on genetic discovery, biomarkers, disease mechanisms, and novel strategies to improve early rare genetic disease diagnosis.

For registration info, click here.

Stay tuned for more information about this event.