Clinical Genetics Lab

Dr. Conxi Lázaro is a molecular geneticist with more than 25 years of experience in the field of human genetics. She did her PhD in Human Genetics at University of Barcelona. She has worked in several clinical hospitals in Barcelona. She was an invited professor at Massachusetts General Hospital Cancer Center at Boston in 2003/04 and did a sabbatical stay at Mount Sinai Hospital and at Women’s College Hospital in Toronto in 2018/19.

In the last ten years she has been involved in several projects aimed at using Next Generation Sequencing (NGS) for genetic testing purposes. Her field of expertise is Hereditary Cancer. Of relevance was her pivotal research in the genetic basis of Neurofibromatosis type 1 (NF1). She is member of several reputable international consortia and associations such as CIMBA, ENIGMA, CTF, GENTURIS.

As a summary information of the scientific production, Dr. Conxi Lázaro has participated in more than two hundred scientific publications in indexed journals, being in many cases the first or last author. The cumulative impact factor is greater than 1000 and the average impact factor is 8.0. She has participated in more than 60 competitive research projects, being the Principal Investigator in more than half of them. For more than 20 years, Dr. Lázaro has demonstrated the ability to attract competitive resources, both national and international, from the public and private sectors.

In addition, Dr. Lázaro has participated in the writing of several book chapters as well as in several reviews and scientific articles for the general public. During her sabbatical year in Toronto (2018/2019) she led the edition of a book on variant interpretation entitled Clinical DNA Variant Interpretation-Theory and Practice (Academic Press, 2021).

I graduated in Biochemistry at the University of Barcelona. My PhD thesis, dealing with the genetic and molecular basis of Cystinuria, was completed in the Genetics Department of the Oncology Research Institute (IRO) under the supervision of Dr. M. Palacín and Dra. V. Nunes. There I worked as a research assistant in the Genetics Department of IRO, where I finished the characterization of the Cystinuria KO mouse model Stones (patent Nr.P2000301592), which I generated during the Ph.D., and performed Cystinuria pharmacological studies with it. In 2006 I started working as a research and diagnostics assistant in the Molecular Diagnostics Unit at the Catalan Institute of Oncology (ICO).

I am responsible for the Hereditary Breast and Ovarian Cancer Syndrome diagnostics and also work in the diagnostics technological development, mainly focusing in Next Generation Sequencing (NGS) techniques and analysis. As part of it, I’ve been involved in several projects aimed to use NGS panels for genetic testing purposes both at germline and somatic levels, and now to implement targeted RNAseq with short read and long read platforms. I collaborate with international consortia like ENIGMA and CIMBA to decipher the genetic basis underlying the Hereditary Breast and Ovarian Cancer Syndrome. Additionally, I pursue the improvement of genetic variant pathogenicity classification, by working in its semi-automation, developing gene-specific classification guidelines and building a Spanish hereditary cancer variant registry.

I have published 54 articles in peer-reviewed journals (H-index: 17, source Publons, February 2021). During these years I have actively participated in 15 R&D projects financed by public entities. I have supervised one master work (2021) and, together with Conxi Lázaro, one doctoral thesis (2016). Currently I am co-supervising another doctoral thesis.

Dr. del Valle is graduated in Biology from the University of Oviedo. Subsequently, he moved to to Pompeu Fabra University in Barcelona, where as a PhD student he investigated the genetic basis of several pediatric overgrowth syndromes, focusing particularly on Sotos syndrome. In 2007 he started working at the Molecular Diagnostics Unit of Catalan Institute of Oncology under the supervision of Dr. Lázaro. Since then, he has combined his efforts in the genetic diagnosis of different conditions of hereditary cancer, as well as in the investigation of the underlying molecular basis of hereditary cancer.

In these 20 years he has accumulated an extensive experience as a molecular geneticist, particularly in the fields of NGS, large genomic rearrangements and genetic variant classification. Since 2019 he holds the European Board of Medical Genetics, registered as Clinical Laboratory Geneticist. He has published more than 45 articles in peer-reviewed journals (h-index: 18, >900 citations), 1 book chapter and has actively participated in several R&D projects financed by public entities.

Sara González is a molecular geneticist with more than 25 years of experience in the field of human genetics. She took her degree in Biology at Universidad Complutense de Madrid. She did her training on colorectal cancer genetics in Hospital de Sant Pau, Barcelona under the supervision of Dr. Gabriel Capellá.

She settled up the laboratory of genetic testing at Catalan Institute of Oncology (ICO) in 1999, the seed of the current Service of Molecular Diagnostics. She has been involved in multiple projects aimed, her main research interest and field of expertise is Familial adenomatous polyposis (FAP) and Next Generation Sequencing (NGS) for genetic testing purposes. She is member of several reputable international consortia and associations such as AEGH and GENTURIS.

As a summary information of the scientific production, Sara González has participated in more than hundred scientific publications in indexed journals and in multiple competitive research projects.

In addition, Sara González has become an expert in managing quality in the field of genetic testing. She has participated in several courses and training focus on this field and she is leading the achieving and maintenance of different external quality schemes such as NORMA ISO9001, NORMA ISO15189 and EQA/EMQN quality assessment schemes.

José Marcos is a postdoctoral researcher and bioinformatician focused on hereditary cancer, web and database development. In 2009 he obtained a degree in computer engineering at the University of Granada, after which he worked as a software engineer for seven years. In 2016, he switched to the field of genetic diagnostics for developing a web-based tool to manage genetic testing of hereditary cancer as a part of the ICO-IMPPC Joint Program for Hereditary Cancer. Following this, he pursued a Master’s degree in Bioinformatics and Biostatistics at the Open University of Catalonia.

From 2018 to 2021 he did a PhD under the supervision of Bernat Gel and Conxi Lázaro at the Hereditary Cancer Program of the ICO-IDIBELL. During these years, he carried out multiple bioinformatics approaches to improve the genetic testing of hereditary cancer. He performed an evaluation of NGS copy number variant (CNV) calling tools on targeted gene panel data, focusing on genetic diagnostics. Taking advantage of the benchmark results, he then evaluated the impact of using a CNV calling tool as first-tier screening in the diagnostics routine. After that, he developed a R/bioconductor package to identify false positives produced by NGS CNV calling tools.

I graduated in Genetics at the Autonomous University of Barcelona (UAB) in 2016, and then moved to Madrid to pursue a Master’s Degree in Genetics, Cell Biology and Biomedicine. I performed my Master thesis at the Molecular Oncology group of San Carlos Clinical Hospital, focused on the identification of new genes involved in colorectal cancer predisposition using a multi-gene panel approach. It was during this period that I got familiar with the diagnostics environment involving next-generation sequencing technologies, and I realized I wanted to continue my academic career in cancer translational research in a clinical setting. In 2017, I started my PhD at the Molecular Diagnostics Unit of the Hereditary Cancer Program at the ICO-IDIBELL, under the joint supervision of Dr. Conxi Lázaro and Dr. Jesús del Valle. My project is focused on implementing new strategies and technologies in order to improve the diagnostic algorithms for hereditary cancers. Some topics of my research include the identification of new moderate/low-penetrance cancer predisposing genes and the implementation of somatic and RNA testing to increase the diagnostic yield.

I graduated in Genetics by the Univesity Autonoma of Barcelona in 2017. During my degree I did an internship at VHIO’s High Risk and Cancer Prevention Group, which was the reason why I decided that I wanted to focus my carreer on Hereditary Cancer.

In 2018, I did another internship at the ICO’s Genetic Counseling Unit supervised by the genetic counselor Ares Solanes and the Dr. Joan Brunet. After that, I started working at the unit as Data Curator. Meanwhile, I studied a Masters degree in Bioinformatics and Biostatistics at the Open University of Catalonia. I performed my Masters Thesis with Elisabeth Castellanos at the Genetic Diagnostics for Hereditary Cancer which is part of the ICO-IMPPC Joint Program for Hereditary Cancer. The aim of the project was to semi-automate the variant classification for RASopathies genes.

Since 2021 I am a predoctoral researcher under the joint supervision of Dra Conxi Lázaro and Dra Lidia Feliubadaló. The main goal of my research is to improve the diagnosis of Hereditary Cancer from a Bioinformatics point of view. Specially, I will be focusing on optimizing the variant classification process, as well as, developing new bioinformatics solutions, in order to improve variant interpretation and pipelines currently used.

I am a predoctoral researcher graduated in Biotechnology by the University of Barcelona (UB). In 2017, I coursed the Master in Genetics and Genomics by the University of Barcelona (UB). During that time, I performed my Master Thesis with Dr. Daniel Grinberg and Dr. Lluïsa Vilageliu in the Department of Genetics, Microbiology and Statistics of the UB. The aim of the project was to generate a cellular model for Sanfilippo type C syndrome by using CRISPR-Cas9 in induced pluripotent stem cells (iPSCs).

After finishing my Master, I realized I wanted to do my PhD in rare syndromes due to the lack of knowledge in this field and the impact they have in patients. For this reason, I decided to do my PhD in the Hereditary Cancer Program at IDIBELL, under the joint supervision of Dr. Conxi Lázaro and Dr. Juana Fernández. The overarching goal of my research is to find novel combinations of drugs that are effective in the treatment of Malignant Peripheral Nerve Sheath Tumors (MPNSTs), a rare and aggressive type of sarcoma that usually appears as a clinical manifestation in Neurofibromatosis Type 1 (NF1) patients. I also aim to investigate the role of the tumor microenvironment of MPNSTs in tumoral progression and resistance to treatments.

I am a postdoctoral researcher graduated in Biology from the University of Barcelona. In 2000, I started my PhD project in the Department of Genetics at the Faculty of Biology. There, I studied how the model organism freshwater planarians regenerate and I obtained my PhD in 2006. In 2007, I decided to switch to more translational research and started my postdoc at the Hospital Duran i Reynals as part of the neurofibromatosis type 1 group led by Dr. Conxi Lázaro, this group is now part of the hereditary cancer program at IDIBELL. During all this time we have studied different aspects of the NF1 such as possible therapies for certain genetic mutations, the search for new therapies to treat tumors associated with this disease called MPNST, or the development of in vivo and in vitro models to understand the formation of these tumors and perform co-clinical trials. I have published 16 articles in peer-reviewed journals (H-index 13), 2 book chapters and I have participated in 11 R&D projects. During this time, I co-supervised one masterwork in 2016, and currently, I am co-supervising one masterwork and a doctoral thesis.

In addition, for the last three years, I am also working as an associate professor in the Department of Cell Biology, physiology, and immunology at the Faculty of Biology.

I graduated in Biology by the University of Barcelona (UB) in 2019. During my degree, I did my Degree thesis with Dr. Manel Esteller in the IDIBELL and Josep Carreras Leukaemia Research Institute focused on the study of cancer-specific silencing of an RNA methyltransferase, therefore specifically in the cancer epigenetics program.

In 2020, I coursed the Master’s in Genetics and Genomics by the University of Barcelona (UB). During that time, I performed my Master’s Thesis with Dra. Conxi Lázaro and Dra. Juana Feráandez at the Molecular Diagnostics Unit of the Hereditary Cancer Program at IDIBELL. The project aimed to thoroughly characterize two newly establish Malignant Peripheral Nerve Sheath Tumors (MPNSTs) cell lines. It was during this period that I decided to continue my academic career in science with this group studying in more detail Neurofibromatosis type 1. For this reason, once I finished my Master’s in 2021, I started my PhD under the supervision of Dra Conxi Lázaro and Juana Fernández in the same laboratory. The principal aim of my PhD project is to evaluate the use of precision drugs to target three altered pathways due to the loss of recurrently mutated tumor suppressor genes (TSGs) in MPNST (NF1, CDKN2A / B, PRC2) in preclinical research, therefore, to find the best co-treatments that target the three altered pathways in MPNSTs.

During my PhD, I collaborate with the group of Dr. Eduard Serra, principal researcher who will also co-direct my doctoral thesis from the Germans Trias i Pujol Institute (IGTP).

I am graduated in Medicine by the Autonomous University of Barcelona (UAB) in 2013. After that, I performed my Internal Medicine Specialty Formation in the Bellvitge University Hospital between 2014-2019. During my years of training in the Internal Medicine Department, I had the chance to learn about autoimmunity and rare diseases. Thanks to Dr. Xavier Solanich I had the pleasure to discover primary and secondary immunodeficiencies.

Once I finished my Internal Medicine training, I started studying a Master’s degree in Advanced Immunology in the University of Barcelona (UB)- UAB to establish a training base in immunology and be able to direct my professional career towards the study of immunodeficiencies, whether primary or secondary. I performed my Master thesis under Dra. Conxi Lázaro tutorship studying TLR7 as a susceptibility factor for the development of severe COVID-19 in young patients without comorbidities.

Since September 2021 I have also enrolled the Medicine and Translational Research program in the UB to perform my doctoral thesis focused on genetic and immunologic host susceptibility factors to severe COVID-19 development under the joint supervision of Dr. Xavier Solanich and Dra. Conxi Lázaro.

Primary and Secondary immune deficiencies center my current concerns and interests. Further, since SARS-CoV-2 pandemic began I have been contributing to know more about COVID-19 therapeutic options through my participation in clinical trials as investigator and to know more about immunologic and genetic host susceptibility factors to severe COVID-19 disease.

I graduated in Genetics at the Autonomous University of Barcelona (UAB) in 2014, then I completed a master’s degree in Biological Anthropology, Human Diversity and Biomedical Applications at the University of Barcelona together with the Autonomous University of Barcelona in 2015. At this time, I performed my master’s thesis focused on the genetic study of Lewy body diseases, supervised by Dr. Katrin Beyer and Dr. Cristina Santos at the Hospital Germans Trias i Pujol. Following with neuroscience research, I pursued my PhD (2020) in the mitochondrial neuropathology lab led by Dr. Albert Quintana and Dr. Elisenda Sanz. I was keen on deciphering the neuronal type specific contribution at transcriptomic (nuclear and mitochondrial) level in Leigh syndrome mitochondrial disorder. Supporting this research, I did a short stay in Dr. Rita Horvath’s lab in Cambridge University (UK).  Additionally, I collaborated with industry stakeholders in pre-clinical pharmacological studies for mitochondrial pathologies, coordinated a master’s thesis and collaborated in university teaching at the UAB. Then, I decided to direct my career path towards a translational research and clinical support. In 2021 I joined Hereditary Cancer Group at the IDIBELL as Project Manager while coursing a clinical genetics postgraduate course.

I am a postdoctoral researcher graduated in Genetics from the Universitat Autònoma de Barcelona (UAB) in 2015. I continued my university education with the Postgraduate course in Medical Genetics by the Universitat de València (2016-2017) and the Master’s Degree in Cytogenetics and Reproductive Biology by UAB (2017-2018). I did my Master Thesis in the Genetics of Male Fertility Group, characterizing genetic risk in carriers of chromosome heteromorphisms. After that, I started my Phd (2018-2021) at the same group, under the joint supervision of Dra. Francesca Vidal and Dr. Joan Blanco. There, I studied 22q11.2 deletion syndrome as a model study for the integral analysis of genetic factors that predispose genomic disorders. At this time, I entered at the Next Generation Sequencing (NGS) analysis world. Meanwhile, I collaborated in the study of clonal heterogeneity and evaluation in relapse high-hyperdiploid B-cell acute lymphoblastic leukaemia, with Dr. Oscar Molina and Dr. Pablo Menéndez from Josep Carreras Leukaemia Research Institute. During these years, I published two books and several divulgation articles to bring genetics to the general population. In 2021 I joined to Hereditary Cancer Group at IDIBELL as a NGS data analyst.

Guillem obtained his B.Sc. in Molecular Biology by the University of Barcelona (UB) in 2013, performing research internships in both the Developmental Genetics and Biology group and the Unit of Botany of the University of Barcelona (UB) as well as the Chromatin Dynamics group at the University of Copenhagen (KU). He performed a research internship in the group of Dr. Kristian Helin at the Biotech Research & Innovation Center in Copenhagen, Denmark (2013-2014), and continued his studies obtaining an M.Sc. in Human Biology by the University of Copenhagen (KU) (2016). He performed his master thesis at the laboratory of Dr. Kim Jensen at the Biotech Research & Innovation Center (currently reNEW) in Copenhagen, Denmark (2016). He pursued his Ph.D. in Biomedicine at the Hematopoietic Stem Cells, Transdifferentiation and Reprogramming group led by Dr. Thomas Graf at the Centre for Genomic Regulation (CRG) in Barcelona. He defended his Ph.D. thesis in 2022, focusing on the role of post-translational modifications of transcription factors in cell fate decisions. He joined the Hereditary Cancer group at IDIBELL as a Project Manager to aid in the steering of global translational and clinical projects.

I graduated in Medicine at the University Rovira i Virgili (URV) in 2004, and then I performed the Internal Medicine Specialty at the Hospital Universitari de Bellvitge (HUB) between 2005-2010. Thereafter, I finished a Master’s degree in Systemic Autoimmune Diseases at the University of Barcelona (UB) in 2011, and a Master’s degree in Advanced Immunology at the UB and the Autonomous University of Barcelona (UAB) in 2015. My PhD thesis in Medicine, dealing with genetic and immunologic host susceptibility factors to severe COVID-19, was completed at the UB in 2021.

I am a consultant in the internal medicine department at the HUB since 2010. Investigation and management of primary (genetic) immunodeficiency and secondary immunodeficiency (caused by another illness or treatment except for HIV) in a specific clinic and within the framework of a multidisciplinary unit to manage these entities in the HUB. I also attend patients with autoinflammatory and systemic autoimmune diseases, as well as some rare diseases such as systemic histiocytosis.

From 2010 to the present I have published more than 60 original articles in peer-reviewed journals (H-index 18, total times cited 3661; source Scopus, March 2023). I also has participated in the writing of several book chapters and article reviews. In addition, I have participated in six R&D projects by public entities, and in eleven clinical trials from public and private sectors.