Pharmacogenomics

PHARMACOGENOMICS

The main goal of the Pharmacogenomics Lab focuses on the study of germline and somatic variants (polymorphisms and mutations) in complex diseases in order to identify markers associated to disease risk and drug treatment response. Focusing on personalized medicine, the interest of our group is to define genetic factors responsible for the phenotypic variability accompanying different disease models. Molecular biology methodologies are employed in the laboratory to study specific genes encoding drug metabolism and transport enzymes, as well as genes involved in the DNA damage response, apoptosis and proliferation mediated by the p53 signaling pathway. Massive genomic analysis of variants is also undertaken through DNA microarray platforms or whole exome sequencing to identify disease-specific genetic markers and/or pharmacogenes.

Chair: Ariela Freya Fundia, MSc, PhD
Associated investigator – CONICET

Email: arielafundia@gmail.com

Researchers

Fellows

Concurrents

Research lines

Publications

Discrimination of the chemotherapy resistance status of human leukemia and glioblastoma cell lines by MALDI-TOF-MS profiling. Ledesma M, Poodts D, Amoia S, Hajos S, Fundia A, Vay C, Pibuel M, Lompardía S. Sci Rep. 2023; 13(1):5596. doi: 10.1038/s41598-023-32608-2.
Avances en la genética de la hipertensión arterial pulmonar. Fontecha MB, Anadón MR, Mazzei JA, Fundia AF. Insuficiencia Cardíaca 15 (1):10-18, 2020. http://www.insuficienciacardiaca.org/, http://ref.scielo.org/m3m5r9
Single nucleotide polymorphism in PTEN-Long gene: A risk factor in chronic myeloid leukemia. Ferri C, Weich N, Gutiérrez L, De Brasi C, Bengió MR, Zapata P, Fundia A, Larripa I. Gene. 2019; 694:71-75. doi: 10.1016/j.gene.2019.01.038.
Gene polymorphism profiles of drug-metabolising enzymes GSTM1, GSTT1 and GSTP1 in an Argentinian population. Weich N, Roisman A, Cerliani B, Aráoz HV, Chertkoff L, Richard SM, Slavutsky I, Larripa IB, Fundia AF. Ann Hum Biol. 44(4):379-383, 2017. doi: 10.1080/03014460.2016.1259429.
TP53 codon 72 polymorphism predicts chronic myeloid leukemia susceptibility and treatment outcome. Weich N, Ferri C, Moiraghi B, Bengió R, Giere I, Pavlovsky C, Larripa I, Fundia AF. Blood Cells Mol Dis 59:129-33, 2016. doi: 10.1016/j.bcmd.2016.05.007.
GSTM1 and GSTP1, but not GSTT1 genetic polymorphisms are associated with chronic myeloid leukemia risk and treatment response. Weich N, Ferri C, Moiraghi B, Bengió R, Giere I, Pavlovsky C, Larripa IB, Fundia AF. Cancer Epidemiol 44:16-21, 2016. doi: 10.1016/j.canep.2016.07.008.
Polymorphic variants of GSTM1, GSTT1, and GSTP1 genes in childhood acute leukemias: A preliminary study in Argentina. Weich N, Nuñez MC, Galimberti G, Elena G, Acevedo S, Larripa I, Fundia AF. Hematology; 20:511-6, 2015. doi: 10.1179/1607845415Y.0000000007.
Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR. Abelleyro MM, Radic CP, Tetzlaff T, Marchione V, Fundia AF, Larripa IB, Rossetti LC, De Brasi CD. Haemophilia; 21(3): e247-51, 2015. doi: 10.1111/hae.12656.
Glutathion-S-transferase gene polymorphisms in celiac disease and its correlation with genomic instability phenotype. Fundia AF, Weich N, Crivelli A, La Motta G, Larripa IB, Slavutsky IR. Clin Res Hepatol Gastroenterol, 38:379-84, 2014. doi: 10.1016/j.clinre.2014.01.007.
Gluthatione S-transferase P1 mRNA expression in plasma cell disorders and its correlation with polymorphic variants and clinical outcome. Stella F, Weich N, Panero J, Fantl D, Schutz N, Fundia AF*, Slavutsky I*. Cancer Epidemiol 37:671-4, 2013. doi: 10.1016/j.canep.2013.07.004.

Awards and recognitions