There are more than 7,000 identified rare diseases where about 80% are hereditary. About 30 million Americans are living with a rare disease today; worldwide more than 350 million people are affected. For most of the rare genetic diseases, basic knowledge, pathophysiology, natural course of the disease and understanding how to test as well as how to monitor is limited or not available at all. This significantly hampers the ability to both diagnose and treat these diseases. However, early diagnosis is crucial for the majority of the patients.
Dr Arndt Rolfs, CEO of CENTOGENE states, "For the early diagnosis of rare hereditary diseases, we have to take the burden off the clinician’s shoulders and transfer it in the labs. Even the most renowned clinical expert cannot properly diagnose all of the known rare genetic disorders. This is a significant problem for society and even more so for the individually affected patient and their family members. This problem attributes to the diagnostic odyssey for most of these patients."
The implementation of systematic screening methods, whole genome sequencing (WGS) and MS/MS based proteomic testing has already improved the world for the rare disease patients, even though it is still in its infancy.
CENTOGENE is initiating a program to characterize at least 50 new genes per year - exposing a new rare hereditary disease world. The analytical strategy is based on the systematic combination of WGS and high-content proteomic approach in clinical samples. We believe that this combination of diagnostic gene and protein screening strategies in each patient with a rare genetic disorder will allow identification over the next 10 years in more than 95% of all rare hereditary disorders.