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Human Disease Modifier Genes


Diversity between patients who suffer from the same disease promote studies that focus on the surrounding aspects. ​The aim of these research branches is to study the genetic and biomolecular aspects of certain diseases, including genetic predisposition, clinical diagnosis and the identification of new therapeutic targets. ​BIOMICs UPV/EHU focuses on modifier genes that impact on the diagnosis and treatment of certain illnesses.

Cystic Fibrosis

Publications (last 10 years):

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1. Kleinbielen T, Palencia-Madrid L, Garcia-Ibarbia C, Ortiz F, Riancho JA, M de Pancorbo M. Association of LCT -13910C>T polymorphism and hip fracture in a cohort of older adult population from Northern Spain. Gene. 2021. 30;783:145560. doi: 10.1016/j.gene.2021.145560

2. Kleinbielen T, Hernández-Sierra MP, Prieto-Fernández E, Olasagasti F, Sevillano R, M De Pancorbo M. NOS1AP SNPs related to sudden arrhythmic death syndrome. Forensic Science International: Genetics Supplement Series. 2019. 7(1);569-571.

Congress contributions (last 10 years):

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45th European Cystic Fibrosis Conference - Rotterdam, the Netherlands, 2022

Granizo-Rodríguez E. , Baeta M., Kleinbielen T., Padura O., Arizti P., Baranda F. and de Pancorbo M.M. E-Poster and Oral Presentation: “Cystic fibrosis modifier genes and bacterial infections in spanish patients”.

28th Congress of the International Society for Forensic Genetics (ISFG) – Prague, Czech Republic, 2019C

Tamara Kleinbielen, María del Pilar Hernández Sierra, Endika Prieto-Fernández, Felix Olasagasti, Rubén Sevillano, Marian M. De Pancorbo. Poster presentation: “Study of biomarkers related to Sudden Arrhythmic Death Syndrome”.

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