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Rare genetic diseases

We provide functional genetic support for your drug development program, starting from the initial drug target discovery and validation. For later clinical trials, we can build databases providing drug sensitivity of gene variants to guide patient inclusion and novel treatment approaches. 

Pre-clinical and clinical related services

We build cell models and functional assays to directly address the mechanisms underlying the cause of the disease. One example, to illustrate this approach, has been published by co-founder Zhenya Ivakine and his research team, for the neurological disorder, Niemann-Pick type C (NPC). NPC is caused by loss-of-function (LOF) gene variants in the NPC intracellular cholesterol transporter 1 gene (NPC1). Such LOF gene variants are causing an accumulation of cholesterol in the lysosomes. Zhenya and his team established a functional read out for quantifying cholesterol accumulation in the lysosomes (LysoTracker).


The LysoTracker readout was made quantifiable using a FACS approach. 


The functional assay approach includes gene editing, FACS sorting, and DNA sequencing to quantify the functional consequences of each gene variant. This setup allows Zhenya Ivakine and his team to quantify all possible nucleotide changes in larger regions of NPC1 for the LysoTracker readout.


We propose to use such functional assays to test the ability of your drug target to reverse disease biology for your rare genetic disease of interest, and build a data base of drug sensitive gene variants to help guide the inclusion of patients for your upcoming clinical trials. 


To learn more on how we can help your drug development program, please contact us or book a meeting.

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