Accelerated Orphan Drug Development
Rostock, Berlin, GERMANY & Cambridge, MA USA, 28 May, 2019 – In a whitepaper released today, CENTOGENE provided an update on its induced pluripotent stem cells (iPSC) program. Launched in early 2019, the program is focused on supporting pharmaceutical companies for faster and cheaper orphan drug development for neurodegenerative, metabolic, and cardiovascular diseases.
CENTOGENE has already collected more than 500 skin biopsies from patients with rare diseases from around the world, and is reprogramming them into iPSC for a number of metabolic rare diseases such as Gaucher, Niemann Pick Type A and C, Polycystic kidney disease, Fabry disease, Metachromatic leukodystrophy, and Mucopolysaccharidosis type 2.
In the drug discovery process for rare diseases, the industry faces limited information on the clinical spectrum of the disease because of the limited number of patients available by the very definition of a rare disease. Importantly for pharmaceutical companies, iPS cells are considered an unlimited source from which to generate almost every disease-specific cell type in the laboratory.
“A significant challenge in orphan drug development for rare genetic diseases is the lack of predictive high-throughput compound screening systems – with animal-based disease models often unsuitable and primary patient cells, such as neuronal and cardiac cells, difficult to obtain,” commented Dr. Arndt Rolfs, CEO and Founder of CENTOGENE. “By employing iPSC technology, we are offering our pharmaceutical partners disease models that represent the actual human diseases and providing a unique human model for less expensive, accelerated, and safer orphan drug development ̶ ultimately to the benefit of our rare disease patients.”
Dr. Rolfs continued: “The combination of our database containing information from more than 300,000 individuals, state-of-the-art bioinformatics including machine-learning algorithms and big data tools for pattern recognition, and our expertise in cohort identification, genetic testing, biomarker development, and clinical studies is now complemented by an in-house iPSC program for orthogonal target validation as well as further biomarker discovery.”