Research lines

• Increase of the cost-effectiveness of genetic testing and our knowledge of the genetic basis of some diseases (mostly hereditary diseases with a predisposition to develop tumours, as well as renal diseases)
• Development of personalised medicine for neurofibromatoses and schwannomatosis patients, which include the discovery of new prognostic biomarkers, understanding the role of patient's genomic alterations in the development of disease-associated lesions and the implementation of different gene therapy strategies as a potential treatment for these group of diseases
• Improvement of the management of phakomatoses patients considering not only clinical diagnosis but also emotional, social, religious and physical dimensions that could impact patients with these rare diseases
• Development of strategies to evaluate genetic individual susceptibility to illness

Active projects

Past projects

Additional information

Collaborative Networks

• CSUR de Facomatosis ICO-HGTP-IGTP. Dr. Blanco is the coordinator of a Spanish Reference Center.
• European Network of Reference Centers (ERN) GENTURIS (syndromes with predisposition to rare tumors).
• NF-EURONET: European network to improve genetic testing for Neurofibromatosis, Schwannomatosis and related syndromes.
• Neurofibromatosis and Schwannomatosis Variant Curation Expert Panel (NF_SWN VCEP): International network recognised by National Health Institute (NIH) - ClinGen program to stablish gene-specific ACMG/AMP classification criteria for these diseases.
• Grup de Recerca en Neurofibromatosis (GRNF) 2021 SGR 00967: Multidisciplinary Neurofibromatosis Research Group recognized by the Government of Catalonia.
• XIGENICS: comprehensive genetics network of the Institut Català de la Salut to implement genomics medicine at ICS's hospitals.
• Can Ruti COVID sequencing HUB: HGTP-IGTP-IrsiCaixa network to characterize SARS-2-Covid variants detected in our population.
• Children's Tumor Foundation Europe (CTF-Europe): The Children's Tumor Foundation Europe's mission is to drive research, expand knowledge, and advance care for the NF community.

National and international partners

• Scott Plotkin, MD, PhD at Massachusetts General Hospital to participate in gene therapy approaches for NF2.
• Dr Piotrowski at Medical University of Gdanskv: Schwannomas' characterization and discover new genes to induce these kind of tumors.
• Dr Lázaro at Hereditary Cancer Program of Catalan Institute of Oncology (ICO) to improve genetic diagnostics tools and NF research, and common research projects
• Dr Jordi Llorens, at Facultat de Medicina i Ciències de la Salut (UB), together with Otorhinolaryngology Service at HUGTiP to study the pathogenesis of vestibular Schwannomas and hearing loss.
• The Barcelona Neurofibromatosis Group (BCN_NF Group). The group is composed by different groups that collaborate together in the field of the Neurofibromatoses: the group of Dr. Conxi Lázaro who initiated the first NF Group at mid '90s; the group of Dr. Serra (Hereditary Cancer Group at IGTP) with huge experience in study the contribution of somatic variants in the development of NF tumors and also in the development of iPSC-based models for study NFs; the group of Dr. Cleofé Romagosa (Department of Pathology, Vall d'Hebron Hospital) pathologist specialist in sarcomas and expert in tumors of the PNS associated to NFs, and our group.

Comittees and advisory boards

Dr Blanco is advisory board of:

• Associación Espanyola de Afectats por la Neurofibromatosi (AENF)
• Associació Catalana de Neurofibromatosi (AcNefi)
• Member of the Advisory Council for Minority Diseases of Departament de Salut de la Generalitat de Catalunya
• Member of the Advisory Council of the National Commission for Assisted Human Reproduction (CNRHA)
• Member of the Advisory Committee of the Spanish Federation of Rare Diseases (FEDER)
• Advisor to the Spanish Ministry of Health in the area of Genetics

Doctoral theses

Title: Refining prognosis capacity and implementing principles of personalized therapies for Neurofibromatosis type 2
Author: Núria Catasús Segura
University: Universitat de Barcelona
Date of defense: 31/05/2022
Qualification: Cum Laude

Innovation 

Patent: Arkadiusz Piotrowski; Irene Tieman-Boege; Magdalena Koczkowska; Monika Horbacz; Elisabeth Castellanos; Theresa Mair; Monika Heinzl; Shebab Moukbel; Barbara Arbeithuber; Atena Yasari; Natalia Filipowicz; Justyna Prokopiuk. Registered. Automated dúplex sequencing library preparation for the NF2 gene in suspected mosaic NF2-related schwannomatosis patients Poland. 01/02/2024. Foundation for Polish Science (FNP) under the International Research Agendas Program.