The results of the project enabled the development of center: PI of the project is Founder and head of »Center for genome analysis and personalized medicine«, operating withnin IP‐0029 Infrastructure center at University of Maribor, unit CORE@UM, finnancialy supported by ARRS. Our Center: 1. provide genetic diagnostic services and research&development and implementation of new diagnostic protocols for the University Clinical Center Maribor and University Clinical Center Ljubljana and other clinical and non‐clinical national health related institutions such as National instute of Public Health; selected R&D projects include IRP‐2016/01 »Development of next generation sequencing protocols for diagnosis of monogenetic (Mendelian) syndromes at University Clinical Center Maribor, Division of Paediatrics«, IRP‐2014/01‐30 »Identificaition of monogenic mutations and DNA polymorphisms associated with risk for Parkinson disease in Slovenian patients«; 2014‐2017 ..etc.; 2. Collaboration with industry: •ptimization of next generation sequencing aplications on instrument Illumina MiSeq; collaboration with company Kemomed; •pplication of the GENEIO platform for laboratory automatization of genetic testing collaboration with company Biosistemika d.o.o.); : •iagnostics of genetic diseases in human and animal models, collaboration with company EVG, Molecular diagnostics d.o.o.; ..etc. See also list of projects above. C.
F.17 Transfer of existing technologies, know-how, methods and procedures into practice
COBISS.SI-ID: 512488248Dissemination of recent scientific discoveries to clinical doctors and other experts in the field: 1. As a key note speaker at international scientific conference ESPCR European Society for Paediatric Clinical Research, 23rd Meeting, 20 June 2014, I have reviewed the stateofthe art in genetics and pharmacogenomics of chronic inflammatory diseases focusing on Inflammatory bowel disease and translations of scientific discoveries into clinical practice. 2. As a key note speaker at scientific international conference 45th Professor Janez Plecnik Memorial Meeting with international symposium Inflammatory bowel disease,Ljubljana 4. 12.5.12. 2014, I have reviewed the stateofart in genetics and pharmacogenomics ofInflammatory bowel disease and translations of scientific discoveries into clinical practice. COBISS ID: 512463928
B.04 Guest lecture
COBISS.SI-ID: 512411192As an invited speaker on internation scientific conference "Genetics2015" I have presented the results of our ongoing GWA pharmacogenomics study in Slovenian CD patients, where we are integrating Immunochip genotype data with comprehensive clinical data (34 items), biochemical data (24 parameters) and gene expression data collected before and during treatment (weeks 0, 4, 12, 20, 30) with ADA treatment response measured with IBDQ and CRP. These will give us deep insight into molecular biological pathways important for disease progression, recovery and developing resistance to anti-TNF. We have developed predictive models that distinguish responders from non-responders to ADA with currently up to 76% accuracy
B.04 Guest lecture
COBISS.SI-ID: 512548152Members of project group Uroš Potočnik and Matjaž Deželak were coauthors of "Monography on Psoriasis", where we described different aspects of psoriasis, the common chronic autoimmune disease. U. Potočnik and M. Deželak contributed the chapter "Psoriasis: genetics", where we reviewed the most important studies describing genetic risk factors for psoriasis.
B.06 Other
COBISS.SI-ID: 83746817Razvili smo algoritem, ki lahko z metodo strojnega učenja na osnovi genotipskih podatkov, lahko pove podskupino Crohnovih bolnikov, ki bo razvla refraktorno obliko, neodzivno na standardno zdravljenje. Ti bolniki bi bili lahko v zgodnejši fazi vključeni v zdravljenje z biološkimi zdravili
B.03 Paper at an international scientific conference
COBISS.SI-ID: 512526904