Rare TumorS Lab

Leads the Rare Tumors Laboratory of the Hereditary Cancer Program/Group at the IDIBELL.

Biologist and biochemist by training interested in the study of rare hereditary cancers to orientate personalized prevention strategies for patients at risk.

She obtained her PhD in 2012 by the University Autónoma of Madrid at the Human genetics group of the CNIO. In 2013, she joined the Human Genetics department of McGill University as a postdoctoral fellow. During this period, she unveiled the genetic cause and mechanistic of rare familial tumors including the description of a germline variant in FGFR1 causing familial forms of Low grade glioneuronal tumors and the discovery of a novel tumor susceptibility syndrome caused by a germline pathogenic variant in the microprocessor DGCR8. In 2018, she became an assistant professor at the Gerald Bronfman department of Oncology at McGill starting her own independent projects in pediatric tumor susceptibility syndromes.

In 2020, she joined the IDIBELL as a La Caixa-Junior Leader while continuing to serve as an adjunct professor at the Gerald Bronfman department of Oncology (McGill). The same year she joined the Scientific Program Committee of the European Society of Human Genetics.

Currently she holds a Miguel Servet position and develops her research program to understand the molecular underpinnings of rare tumor syndromes that affect children and young adults. A central topic of her research is the molecular mechanistic balance that promotes the susceptibility and development of benign and low-grade tumors.

Cristina Rioja is the lab manager of Rare Tumors Laboratory at the IDIBELL. She holds a PhD in Molecular Biology from the University of Salamanca and a MSc in Biotechnology from the Public University of Pamplona. As a postdoctoral researcher at the Western University (Canada), she specialized in functional genomics and reciprocal transcriptomics in plant-pest interactions. Later, as postdoctoral researcher at the University of Copenhagen, she focused on epigenetics and plant metabolomics.

Currently she is interested in developing and setting up state-of-the-art genomic approaches for tumor profiling. In addition, she coordinates the IDIBELL node of “Network for Rare Tumors of the Ovary”, focused on monitoring rare ovary tumors world-wide to improve their diagnosis and provide an equal access to medical expertise and innovative treatments for all patients.

Jacopo Boni is a Juan de La Cierva Postdoctoral fellow with a strong background in kinases and cancer cell signaling. He obtained his PhD in Biomedicine from the Universitat Pompeu Fabra (UPF) in Barcelona studying DYRK kinases and their role as tumor drivers at the Centre for Genomic Regulation (CRG).

His current research work in the lab mainly focuses on uncovering the molecular events driving early brain tumorigenesis, with the aim of identifying novel targets for the treatment of low-grade glioma.

Anne-Sophie Chong is a laCaixa INPhINIT PhD fellow from Montreal. While completing her BSc in Anatomy and Cell Biology (McGill University), she joined a cancer genetics laboratory. In 2021, she completed a Master’s degree in Human Genetics (McGill University) investigating the genetic drivers of thyroid nodules and non-epithelial ovarian tumours. Her current research focuses on the role of miRNA deregulation in the development of thyroid lesions. 

Clara Nogué is a biotechnologist specialized in the health area. Later she took a master’s in translational medicine at the Universitat de Barcelona (UB) and the IDIBELL.

Currently, she carries out her PhD studies focusing on rare cancer syndromes due to alterations in the miRNA biogenesis pathway, particularly in the characterization of DGCR8 syndrome.

Carla Roca is a Geneticist specialized in Bioinformatics as she completed a master’s degree in Bioinformatics and Biostatistics and complementary training in Machine Learning after getting her Bachelor’s degree in Genetics.

She is currently pursuing a doctoral degree at IDIBELL in defining clinical and molecular insights of ovarian Sex Cord-Stromal Tumors. The project is part of an international initiative that aims to build a knowledge resource for rare ovarian tumors to improve their diagnosis and prognosis.

Lluis Salvador graduated in 2021 as a medical doctor from the Hospital Clínic, Universitat de Barcelona. After completing his bachelor thesis, Lluis was granted a Summer Internship Program at IDIBELL and joined the Rare Tumors Laboratory where he devotes his efforts to the study the genetics of Gorlin syndrome, a multi-tumor predisposition disease. Currently he combines his research interest in Gorlin syndrome with his position as a research assistant in the Genetic Cancer Counselling Unit of the ICO.

HyeRim Han is a PIF-SALUT (PERIS) Predoctoral Fellow at the Bellvitge Institute for Biomedical Research (IDIBELL) in Barcelona, Spain. She is currently undergoing a Graduate Research Traineeship in Human Genetics at the Lady Davis Institute in Montreal, Quebec, Canada. Experienced in cell biology and proteomics analysis, her research focuses on the mechanisms for susceptibility and tumorigenesis in pediatric CNS tumors.

Míriam Fernández is a biochemist specialized in molecular and cell biology. After finishing her bachelor’s degree at Universitat de Barcelona, she performed a master’s degree in Biomedical Research at Universitat Pompeu Fabra. While completing her studies, she joined a group at the Institut of Bioengineering of Catalonia (IBEC) where she got experience in the development and biological characterization of 3D in-vitro models. Currently she is the technician of the Rare TumorS Lab where she focuses on the generation of CRISPR/CAS edited cell models.