Cytox approach overview

Cytox is the world leader in developing and commercialising polygenic risk scoring (PRS) algorithms to identify an individual’s genetic risk component for developing Alzheimer's disease. A polygenic score, also called a polygenic risk score, genetic risk score, hazard score or genome-wide score, is a number based on variation in multiple genetic loci and their associated weights. It serves as the best prediction for the trait that can be made when taking into account variation in multiple genetic variants.

Our service based approach is based on a single nucleotide polymorphism (SNP) profiling array, variaTECT™, used in combination with analysis by our proprietary SNPfitR™ interpretive software. It is currently the most comprehensive research panel available for the detection of Alzheimer’s disease informative SNPs and generation of a polygenic risk score based on those SNPs. Our approaches have been developed and tested using multiple international cohorts on nearly 2,500 pathology confirmed subjects; with the presence of amyloid being quantitatively determined by PET, CSF or post-mortem autopsy. Results have been as high as 95% PPV for the presence of amyloid and for some cohorts show a nearly 10% AUC improvement over tests that measure APOE4 carrier status alone. Cytox's approaches are being actively evaluated today by global pharma, biotech and sponsors of larger cohort studies as a more rigorous and cost-effective means to improve stratification of at-risk subjects for participation in clinical trials.

To learn more about working with Cytox to stratify and select subjects more cost-effectively for inclusion in Alzheimer's disease clinical trials, please contact us at


Cytox is commercialising two related approaches for genetically screening subjects for risk of developing Alzheimer's disease. Our hypothesis-based approaches use several hundred SNPs that we have identified through our own internal research coupled with the latest public domain state of the art as being most important for disease progression and development. Cytox is also commercialising a hypothesis-free variant selection model using elastic net regularisation that interrogates nearly 135,000 SNPs known to be in regions associated with the development of Alzheimer's and other neurologically related diseases. Depending on the requirements of the study, Cytox has the ability to apply one or both approaches to a cohort study or clinical trial recruitment effort.

To learn more about Cytox polygenic risk scoring approaches for assessing risk for developing Alzheimer's disease, please contact us at


Defects in cell cycle regulation play a fundamental role in several diseases. It is now widely accepted that the pathogenesis of Alzheimer’s disease involves similar cell cycle mechanisms that could represent an important risk factor for the development of Alzheimer’s disease and other dementias. Many cellular processes are controlled by the complex mTOR pathway; differentially expressed mTOR pathway genes may regulate key functions linked to Alzheimer’s disease. Cytox has identified genetic risk variants (SNPs) which can be used ultimately, in the definition of an algorithm to predict Alzheimer’s disease progression. Proprietary data suggests that an assessment of disease risk may be possible using a customised genetic variation panel associated with mTOR signalling and other pathways.

Cytox is actively developing and in-licensing new approaches designed to help global pharma better understand the role that the mTOR pathway plays in the development and progression of dementia. mTOR pathways regulate the adaptive response of cells to their environment and include the activation and inhibition of a large number of genes. The Cytox genoTORTM approach calculates a SNP burden score for 21 different pathways associated with mTOR, providing insight into Alzheimer's disease subjects who phenotypically show similar symptoms, but genotypically may be quite different. As global pharma adjust their focus to develop more genetically targeted drugs to treat the progression of Alzheimer's disease, approaches like genoTOR will play an increasingly important and vital role.

To learn more about Cytox approaches designed to facilitate targeted drug development for treating Alzheimer's disease, please contact us at