Małgorzata Borczyk

From amino acids to animal models: MAP2K2 mutations and their role in pathogenesis of CFC4 Syndrome

Abstract Background Cardio-facio-cutaneous syndrome type 4 (CFC4) is a rare RASopathy caused by germline mutations in the MAP2K2 gene, which encodes the MEK2 protein - a key kinase in the Ras/MAPK signaling pathway. Although the Ras/MAPK cascade has been widely studied due to its...

preSCRIPT: Large-scale prescription search and annotation engine for pharmacogenomic studies

Abstract Pharmacogenetics (PGx) has traditionally focused on a small number of high-impact variants affecting drug response due to the fact that PGx studies are labor-intensive and therefore low-throughput. Population biobanks linked to electronic health records (EHRs), including...