Increasing Disease Insights by Describing Large Patient Cohorts
A deep understanding of a specific rare disorder is usually hampered by the small size of available patient cohorts. CENTOGENE was able to leverage its Biodatabank to overcome this obstacle for Batten disease, a childhood-onset neurometabolic disorder. The comprehensive and uniform characterization of 97 patients, representing the largest cohort of its kind by far, broadens our insights into Batten disease and showcases CENTOGENE’s unique positioning in the field of rare genetic disorders. It was published in the Orphanet Journal of Rare Diseases.