RareVariants Laboratory

The Rare Variants Lab, led by Dr. Mireia Olivella at the University of Vic / Institute for Research and Innovation for Life Sciences and Health, is dedicated to advancing the interpretation of genetic variation through a combination of computational genomics, protein structural biology, and translational rare disease research. The lab focuses on understanding how protein-truncating variants, missense mutations, and other forms of variation disrupt protein function and drive human disease, with a particular emphasis on neurodevelopmental and neurometabolic disorders.

A major line of research in the lab involves developing scalable and interpretable computational frameworks to classify the pathogenicity of genetic variants. These efforts integrate evolutionary constraint, population genomics, structural modeling, and molecular simulations. The lab leads the development of widely used platforms such as TruncPred, HomolVar, GRINdb, and other tools that provide high-resolution, exon-level and protein-level assessments of variant impact.

The Rare Variants Lab places special emphasis on disorders involving the glutamatergic synapse, including GRINpathies and related channelopathies, combining variant databases, structural modeling, and genotype–phenotype analyses to uncover disease mechanisms and improve clinical interpretation. Collaboration is a core principle of the lab. Its members work closely with clinical geneticists, neuroscientists, international research consortia, patient organizations, and translational partners to accelerate diagnostic pipelines, reclassify variants of uncertain significance, and advance precision medicine in rare disease.

Overall, the Rare Variants Lab aims to produce robust, interpretable, and clinically actionable tools that bridge genomic data, molecular mechanisms, and medical decision-making—advancing the understanding and diagnosis of rare genetic disorders.