RARE Daily

Centogene Partners with Insilico Medicine for Niemann-Pick Disease Type C Target Discovery

January 20, 2022

Rare disease diagnostics company Centogene and AI-driven drug discovery company Insilico Medicine said they will work together to identify, rank, and annotate proteins to identify novel therapeutic targets for Niemann-Pick disease Type C using artificial intelligence.

Photo: Alex Zhavoronkov, founder and CEO of Insilico Medicine

The duration of the research collaboration will initially last 20 weeks.

Niemann-Pick disease type C (NPC) is a genetic lipid storage disease caused by mutations in the NPC1 and NPC2 genes that lead to a heterogeneous spectrum of symptoms. This may include ataxia, dystonia, vertical supranuclear gaze palsy, severe liver disease, and interstitial lung disease, among others. Onset may occur at varying ages, from neonatal to adulthood. Life expectancy is reduced, and the estimated incidence is approximately 1 in 120,000 births but many cases go mis- or undiagnosed, making it difficult to determine the true frequency of NPC.

There are currently no FDA-approved treatments for NPC.

As the framework for the collaboration, Centogene will leverage its Bio/Databank with multiomic patient data and NPC cell lines (for transcriptomic data and validation of identified candidates), through the use of Insilico’s comprehensive novel target discovery AI platform for the identification of differential metabolites, pathways, and genetic modifiers. Both companies will analyze identified targets before pursuing validation in Centogene’s cellular models, and Centogene will retain exclusive rights to any intellectual property generated by the research.

“With the power of AI, we will accelerate the analysis and knowledge discovery of multiomic data from patients affected with NPC,” said Patrice Denèfle, chief scientific officer at Centogene. “Using relevant human cellular models, we hope to crack the code and validate meaningful and valuable insights on a disease for which no cure has been found over the past decades using traditional pharma approaches.”

“Centogene’s rare disease-centric Bio/Databank is unique in the richness of the data it holds. By leveraging Insilico’s powerful proprietary AI platform, PandaOmics, with the multiomic research data from Centogene, I hope our collaboration will result in the discovery of a therapeutic target for NPC,” said Alex Zhavoronkov, founder and CEO of Insilico Medicine. “Ultimately we want to improve the quality of life for those affected by the disease and bring tangible hope to thousands of NPC patients around the world.”

If the research demonstrates translational robustness, a further stage of drug development would become accessible – identifying molecules that act on the identified targets. AI-based methods are expected to accelerate this process – ultimately turning years into months for both the target-to-hit and hit-to-lead phases.

Author: Rare Daily Staff

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