One billion identified alleles within world’s largest patient database of rare genetic disorders

CENTOGENE, the worldwide leader in diagnosing, profiling, tracking and elucidating rare diseases for patients, clinicians and pharmaceutical partners, today announced it has surpassed more than one billion identified alleles in their global patient cohorts within its database of more than 200,000 patient samples.

CentoMD® is the world’s largest global mutation database for rare genetic disorders, covering more than 3,300 associated phenotypes for patients in 115 countries. Within the master database of one billion alleles, CentoMD® boasts data on more than five million previously unpublished alleles. For every individual, it provides information about the genotype-phenotype correlation based on tested clinical cases.

“While any given rare disease affects only a small percentage of people, more than 350 million people worldwide are suffering from rare diseases. Diagnosing a patient with a rare disease can be exceedingly complex and challenging as our ability to discover a genetic variation in a patient genome is ahead of our ability to interpret that variation. Reaching over one billion alleles in our database CentoMD® is a tremendous milestone and will significantly improve the quality of any genetic data set, being the basis for further medical care,” said Professor Arndt Rolfs, CEO of CENTOGENE. “Supported by this information, healthcare providers and pharmaceutical partners will be able to determine the most accurate diagnosis and ultimately, help close the gap between diagnosis and therapy.”