Non-invasive prenatal testing for common trisomies
In our pipeline we currently have a test for non-invasive prenatal detection of common trisomies. Together with the analysis of cell-free fetal DNA, present in maternal venous blood and using next generation shotgun sequencing one can almost with 100 % certainty detect Down syndrome and other common trisomies, such as trisomy 13 and 18 and also abnormalities of sex chromosome X and Y.
Reaction, sensitivity and side effects of medicaments
Genes determine the metabolic rate of the medications, their transport into the cells and organs, their excretion from the body and their effective binding sites. To date, genEplanet has been able to evaluate the individual’s response to certain drugs due to his/her genetic makeup. This includes different antidepressants, lipid-lowering agents, beta blockers, anti-migraine and other medications, for which we are also focus on the evaluation of new potential genetic markers in Slovenian population. As we go along, we shall extend the list of medications and provide with access to new data.
Establishment of optimal transporting conditions for samples to be analyzed with mass spectrometry
The project is aimed in the unifying and standardizing of methods of collection, storage and processing blood and urine samples for the purposes of further analysis. Serum and urine samples are extracellular bioliquids, which reflecting the state of metabolic activity in a given moment or in a given time period and can be considered as a metabolic " snapshot" of the health status of the body. However, currently there is no unified standard for the collection and storage of biological fluids for applications, which can lead to the changes in the metabolic profile and chemically or biologically induced changes in metabolites in either concentration or structure.
Test to asses risk for potential diseases
Our tendencies for developing many diseases are encoded in our genes. Environmental factors pay an important role with the development of such diseases. That is why, in most cases, we can influence how these diseases progress. With our information an individual can change his/her lifestyle and prevent a disease he/she is most prone to, from developing. But when that is not possible it can be discovered during preventive check-ups in time for the treatment to still be effective.
NutriFit genetic analysis represents an individually tailored diet and life-style plan based on a genetic analysis of each individual. NutriFit is an innovative product that is based on the fact that each individual possesses a specific genetic makeup and therefore each individual has specific nutritional needs. The core of NutriFit is based on the fact that link exists between numerous genetic variants and individual dietary needs. NutriFit is undoubtedly one of the main steps in the process of discovering specific needs of each individual and is therefore a key to the optimal diet and a healthy life-style. The personal nutrigenetic guide therefore identifies specific characteristics of each of us and guides individuals on the path to optimal health and well-being.
Mass spectrometry, NMR
Altered metabolism is a well-recognized cancer hallmark, resulting from changes in signaling pathways, protein expression, and other molecular mechanisms. It reflects also specific biochemical adaptations during carcinogenesis, which may confer malignant cells survival advantages. Metabolites are the end products of cellular metabolism and their concentrations reflect the functional status of the organism and thus they are closely related to the observed phenotype. Perturbations in biological pathways can amplify the concentration changes of metabolites, making small molecule metabolites very attractive biomarkers of disease. Mass spectrometry and nuclear magnet resonance based metabolic analysis approach on biological samples can determine biomarkers that will enable development of accurate serum, urine or dried blood spot based test for early detection of various cancers as well as other health complications.
Statistics, machine learning
We have expertise in development of in-house software, computer algorithms and machine learning systems for easy to use classification processes from raw data to end results. We have experience in statistical analysis using following general purpose statistical programming languages and tools R, SAS, Stata and MATLAB. We are familiar in programming on-line scripts and wide-range of statistical methods such as data mining (preprocessing, feature selection, decision trees, random forest, PLS, SVM, Naive Bayes and other algorithms used for classification, regression and clustering), ANOVA, t-test, Wilcoxon rank-sum test, AUROC, PCA and other multivariate and univariate statistical tests.
We have well established collaboration with clinics and hospitals, where patients are recruited in the research and samples are obtained for the purpose of different projects. We have experiences dealing with various samples, such as blood, urine and saliva samples. According to the purpose of use, we prepare the whole plan and take care of the sample processing, transport and storing processes.