Biography
MD (University of Buenos Aires), Board Certified in Genetics Head of Genotyping, Department of Clinical Analysis, HUSS, CEMIC Full Member of the National Academy of Pharmacy and Biochemistry.
Positions
- With grants from the Argentinian National Research Council (CONICET) we study the role of the enzyme Acyl-CoA synthetase-4 involved in arachidonic acid metabolism, as one of the most important molecules that regulates the aggressive phenotype through the regulation of several signal transductions in tumor biology. Using the above mentioned enzyme as a target, we are capable of restoring hormone sensitivity in triple negative breast cancer. Two patents were obtained in the USA / Europe and a third one with an inhibitor of the ACSL4 (PRGL493) gives merit to these results.
- Since 1995 devoted to sequencing genes related to inherited cancers, we described novel variants in patients in every gene analyzed (APC, MUTYH, Lynch Syndrome, TP53, RET protooncogen, and certainly BRCA1/2, etc). As a result of more than 4000 cases analyzed, including about 11% of novel pathogenic variants, we also found a wide profile of novel intronic variants, which we are specifically investigating to search for deeply intronic variants in BRCA1/2. The goal is trying to eventually elucidate the black hole of the more than 60% undetermined genetic results in hereditary breast-ovary cancer. Our local genetic variants are listed in the LOVD data sharing since 2017 with about 40000 entries for BRCA1/2 genes (ar.LOVD.org). We began in 2016 the interaction with International consortiums (CIMBA, ENIGMA) and as a result a few collaborative works have been published up to now in 2026.
Areas of special interest
- Tumor biology and lipid metabolism
- Triple-negative breast cancer therapies
- Genetics of hereditary cancers
- Genomic databases and international collaboration
Argentina