911399. Group of Haematological Malignancies Laboratory

Department of Internal Medicine
Faculty of Medicine

The Haematological Malignancies Laboratory focuses on investigating novel drivers, biomarkers, diagnostic tools and therapeutic targets in haematological neoplasms such as myeloma and acute myeloid leukaemia. The group also acts as the reference laboratory for several centres within the Madrid network of public hospitals. This laboratory stores over four thousand samples in a biobank developed in collaboration with other hospitals. The Pre-clinical Research Unit, is integrated at the Instituto de Investigación Biomédica 12 de Octubre (http://www.imas12.com), using its core facilities for genomics and in vitro research to establish the effects of new anticancer molecules. The Early Phase Clinical Trials Unit is the first of its kind in Madrid, exclusively dedicated to hematologic diseases. The purpose of this Unit is to shorten the time normally taken between a laboratory discovery and its application to patients. The group has joined recently to the CNIO, with the creation of the Haematological Malignancies Research Unit CNIO-H12O (https://www.cnio.es). This integration allow a full access to all the facilities of CNIO and the integration with other basics groups, on the other hand CNIO´s groups can use our clinical facilities. Moreover, in collaboration with the Imas12, the group had stabilised the spin-off Altum sequencing (http://www.altumsequencing.com), a company focused in provide services to the pharmaceutical industry to cancer patients monithoring.

The group have two fixed locations, the H12O-CNIO HAEMATOLOGICAL MALIGNACIES CLINICAL RESEARCH UNIT and the laboratory of the Hospital 12 de Octubre. In the laboratory of CNIO we have more than 300 square metres and complete research equipment. In the laboratory of the H12O we have 1000 square meters of laboratory. The laboratories are equipped with s laminar flow hood, optical, fluorescent, confocal, microscopes incubators, RTPCR machines, Flow cytometer FASCanto II, Sorter FASCAria fussion, x-ray, next-generation sequencers (Illumina and Ion Torrent), as well as collaborations with departments such as microbiology, internal medicine, genetics or pathology. We also have a big animal facility for immunodepresed animals wiht PET CT and bioluminiscence systems.

Cancer will affect one in every three human beings. However early detection and latest generation therapies have substantially improved the survival of patients diagnosed in recent years. In many cases, cancer is considered as a chronic disease, but relapses occur, even after efficient treatment, mostly induced by the survival of residual malignant cells. The quantification of these cancer cells remaining after treatment (Minimal residual disease, MRD) is a powerful tool to define the level of response and clinical outcome of cancer patients. Our Group leads the research in applying Next Generation Sequencing (NGS) for MRD monitoring. Despite the high sensitivity and clinical impact of our proprietary technology, we still miss the right markers for some cancer subtypes. The definition of best genetic markers for MRD such as Somatic Gene Mutations, Gene Rearrangements, Epigenetic Alterations and Structural Variants in a individualised (patient specific) manner, will help patients to know the evolution of their disease and clinicians to better decide when and how to treat them. The project will be focus in expand or approaches to other cancers including solid tumours, apply them in liquid biopsy monitoring (Blood test) and define new strategies to monitor MRD such as DNA methylation or structural variants tracking. The candidate will be in charge of stablish protocols for cfDNA purification and sequencing, define an experimental pipeline to quantify MRD using DNA methylation signatures by Deep Bisulfite Sequencing (DBS) and define Structural Variant sequences by nanopore long read sequencing.

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