E061 – Pharmacogenomics and drug discovery (GenDeM)

Objectives

​The main objective is the analysis of the genetic variability that influences the individual response to drug treatments. The purpose of the group is to advance knowledge in order to discover biomarkers linked both to the prevention of adverse reactions and to the optimization of the therapeutic effectiveness of existing drugs by identifying new therapeutic targets and pharmacological approaches. In this sense, the group particularly prioritizes drugs used in the treatment of prevalent diseases that are difficult to manage therapeutically and/or high cost for the National Health System, ranging from psychiatric agents (including the use of opioids in the context of addiction) to cardiovascular and oncological agents. The main lines of research of the group have a highly translational approach and are oriented towards the direct application of the results to clinical practice, with the aim of enriching and perfecting, through Personalized Medicine, the current procedures, betting on analytical quality.

Lines of research

-Search for biomarkers in Pharmacogenomics

-Association of study variables with clinical characteristics of the patients

-Prevention, prediction and quality in Pharmacogenetics

-Identification and validation of new therapeutic targets and pharmacological approaches

-Improvement of molecular analysis methods and strategies in diagnosis in Pharmacogenetics

• Can-Jun Ruan; Ismael Olmos; Carina Ricciardi; et al; Jose de Leon; Olalla Maroñas Amigo. Exploring low clozapine C/D ratios, inverted clozapine-norclozapine ratios and undetectable concentrations as measures of non-adherence in clozapine patients: A literature review and a case series of 17 patients from 3 studies. Schizophrenia Research. 2023.  https://doi.org/10.1016/j.schres.2023.07.002

• Georgios Schoretsanitis; A Elif Anıl Yağcıoğlu; Can-Jun Ruan; et al; Jose de Leon; Olalla Maroñas Amigo. Clozapine ultrarapid metabolism during weak induction probably exists but requires careful diagnosis. A literature review, five new cases and a proposed definition. Schizophrenia Research. 2023. https://doi.org/10.1016/j.schres.2023.05.010
•  M de With; A Sadlon; E Cecchin; et al; The Working Group on the Implementation of DPD-def. Implementation of dihydropyrimidine dehydrogenase deficiency testing in Europe. ESMO Open. 2023 Apr;8(2):101197. https://doi.org/10.1016/j.esmoop.2023.101197

• Fernando Facal; Begoña Portela; Almudena Gil-Rodríguez; Francisco Barros; Olalla Maroñas; Ángel Carracedo. Complete deletion of the CYP2D6 gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: case report. Frontiers in Pharmacology. 2023. https://doi.org/10.3389/fphar.2023.1237446

• Céline Bellenguez; Fahri Küçükali; Iris E Jansen; Luca Kleineidam; […]; GR@ACE ([..] Olalla Maroñas et al); […]; Jean-Charles Lambert. (374/404). New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nature Genetics. 2022, 54, 412–436 https://doi.org/10.1038/s41588-022-01024-z

• Francisco José Toja-Camba; Nerea Gesto-Antelo; Olalla Maroñas; et al; Anxo Fernández-Ferreiro. Review of Pharmacokinetics and Pharmacogenetics in Atypical Long-Acting Injectable Antipsychotics. Pharmaceutics. 2021 Jun 23;13(7):935. https://doi.org/10.3390/pharmaceutics13070935

• Sonia Moreno-Grau; Maria Victoria Fernández; Itziar de Rojas; et al; Agustín Ruíz; Olalla Maroñas. Long runs of homozygosity are associated with Alzheimer’s disease. Translational Psychiatry. 2021 Feb 24;11(1):142. https://doi.org/10.1038/s41398-020-01145-1

• Marianne Rodrigues Fernandes; Juliana Carla Gomes Rodrígues; Olalla Maroñas; et al; Ney Pereira Carneiro Dos Santos. Genetic Diversity of drug-related genes in Native Americans of the Brazilian population. Pharmacogenomics and Personalized Medicine. 2021; 14: 117–133.. https://doi.org/10.2147/PGPM.S274741