• López-Fernández Luis Andrés

CV

After extensive predoctoral and postdoctoral training at prestigious institutions including CIB (CSIC), INSERM (France), and CNB (CSIC), I established a pharmacogenetics research group at Hospital Gregorio Marañón in 2006. My work is dedicated to developing innovative research lines focused on pharmacogenetics of adverse reactions to fluoropyrimidines, pharmacogenomics of multiple sclerosis, improving implementation of pharmacogenomics, genetics of dual pathology, and pharmacogenomics of anti-TNF drugs in pediatric inflammatory bowel disease.

Throughout my career, I have led numerous research projects and mentored many students, from undergraduate to doctoral levels. I am actively involved in key committees and working groups, including the Pharmacogenomics Working Group for Comunidad de Madrid, aiming to integrate pharmacogenetics into healthcare, DPYD CPIC gene expert panel, and PharmVar DPYD expert panel.

ABSTRACT

Our group has pioneered investigations into the pharmacogenomics of anti-TNF therapies in pediatric inflammatory bowel disease (IBD) since 2016. Our collaborative efforts across over 20 Spanish hospitals aim to identify genetic variants and gene expression profiles associated with anti-TNF treatment response in children.

We have sequenced 200 exomes from children with IBD receiving anti-TNF biologic treatment. Bioinformatics analysis has uncovered 249 genetic variants associated with long-term response to infliximab and 146 to adalimumab. Intriguingly, only two of these variants overlap. Based on these findings, we have generated a predictive score using only 14 single nucleotide variants (SNVs). This score allows us to classify children with IBD into low, medium, or high risk of failure for infliximab on one hand, and adalimumab on the other. This novel approach has enabled us to identify pediatric patients at high risk of failure to one drug but low risk to the other, and vice versa. Results suggest that almost 50% of patients could potentially benefit from personalized therapy by selecting the drug with the highest likelihood of sustained response, leading to clear advantages for both the patient and the healthcare system.