Clinical Genomics Research

Ignacio Blanco

Elisabeth Castellanos

The Clinical Genomics Research group is currently the Genetics Service of the Clinical Laboratory of North Metropolitan Area of Barcelona (LCMN) at the Germans Trias & Pujol Universitary Hospital, which is directed by Dr. Blanco, one of the two co-leaders of the group. The group are in charge of co-diagnosis and follow-up of patients with hereditary diseases together other clinical services at hospital or other centers as well as providing genetic counselling to these patients and families, and managing all genetic testing required to determine the genetic cause of these diseases. One of the aims of the group is to improve the management of these patients considering not only clinical diagnosis but also emotional, social, religious and physical dimensions that could impact the patients. In addition, to increase the cost-effectiveness of genetic testing and also our knowledge of the genetic bases of some of the diseases, our group is centering research on developing new genomic techniques, both at RNA and DNA level, to analyze both germline and somatic variants. Finally, as genetics is a transversal area inside the LCMN, we participate actively to develop and set-up new methodologies to determine SARS-COV-2, to stablish the status of known pharmacogenomics biomarkers, etc.

In addition, we are members of Spanish Reference Center (CSUR) for Phakomatoses, which also is part of the European Network of Reference Centers (ERN) GENTURIS. This includes the Neurofibromatoses, Schwannomatosis, Tuberous Sclerosis and Von-Hippel Lindau. In this context, our group is focused on developing personalized medicine for these group of patients which include the development of new clinical guides which also take into account patients' emotional and social needs, the discovery of new prognostic biomarkers, understanding the role of patient's genomic alterations in the development of disease-associated lesions and finally, the implementation of different gene therapies strategies to cure these group of diseases.


See the publications of the group here

Members of the Group

Group Leaders

The Team

Línies de recerca

1. Development and implementation of new genomic techniques for genetic diagnosis of hereditary diseases

PI: Elisabeth Castellanos and Ignacio Blanco

Although NGS gene panels and clinical WES have allowed the discovery of new disease-causing genes and improves significantly the cost-effectiveness of genetic diagnoses, several of pathogenic non-coding variants are undetected or are hardly well classified without additional techniques. Our group aims to develop new genomic techniques to help solve this and also the detection of mosaicism, especially for the Phacomatoses, in order to implement them into routine genetic testing.

2. Personalized Medicine for Neurofibromatoses

PI: Ignacio Blanco

Important needs in Neurofibromatoses and Schwannomatosis are knowing the impact of the disease on the patient's quality of life (QoL), and also the result of the applied therapeutic and follow-up measures. In addition, unfortunately, these diseases sometimes progress aggressively without the possibility of curative treatment and affecting patients' daily activities, autonomy and QoL. We actively are establishing new personalized clinical practices for this group of diseases including not only genotype-phenotype associations, new treatments and biomarkers, but also considering active care of pain and palliative cares, the emotional, social and physical impacts for patients, caregivers and the health system.

3. Molecular pathogenesis and Gene therapy of Neurofibromatosis type 2 and related disorders

PI: Dr. Elisabeth Castellanos

Neurofibromatosis Type 2 and Schwannomatosis are hereditary disorders that predispose to the development of multiple tumours of the nervous system, mainly meningiomas and schwannomas, neurologic lesions and peripheral neuropathy, for which effective therapeutic options are lacking. Understanding the role of the genes causing these diseases and also the contribution of other modifying genes in tumor development and disease severity will allow, on the one hand, the discovery of new biomarkers, as well as, the development of personalized genetic therapies based in the disease-causing variant.


Evaluación de la terapia génica antisentido para la NF2 en líneas celulares iPS derivadas de Schwannomas y Meningiomas

PI: Elisabeth Castellanos - Ignacio Blanco
Funding agency: Asociación Afectados Neurofibromatosis
Start date: 01/09/2020
End date:  31/08/2022

Evaluation of the use of antisense oligonucleotides as a personalized therapy for Neurofibromatosis Type 2 patients

PI: Elisabeth Castellanos
Funding agency: Children's Tumor Foundation
Start date: 01/01/2020
End date: 30/12/2020

Grups de Recerca Reconeguts per la Generalitat de Catalunya, GRC (Grup de Recerca Consolidat)

PI: Eduard Serra
Funding agency: AGAUR
Agency code:
Start date: 01/01/2018
End date: 31/12/2020

Testing the Malignant Peripheral Nerve Sheath Tumor vulnerability to precision therapies directed to recurrent genomic alterations

PI: Eduard Serra
Funding agency: La Marató de TV3
Start date: 01/05/2020
End date:  30/04/2022

Personalized medicine in Neurofibromatosis type 2: improving the genetic diagnosis, the evaluation of the quality of life and the generation of schwannoma iPSC-derived cell model

PIs: Elisabeth Castellanos - Ignacio Blanco
Funding agency: ISCIII
Agency code: PI20/00215
Start date: 01/01/2021
End date:  31/12/2023

A patient centered research: awareness of patients' needs, clinical phenotyping and molecular parthenogenesis in Neurofibromatosis type 2

PIs: Elisabeth Castellanos and Jordi Llorens (UB)
Coordinator: Elisabeth Castellanos
Funding agency: La Marató de TV3 - Malalties Minòritàries
Agency code: 126/C/2020
Start date: 01/04/2021
End date:  31/03/2024


- Recerca, Projectes

L’IGTP coordinarà un projecte europeu per millorar el diagnòstic i el tractament de les neurofibromatosis

Investigadors del grup de Genòmica Clínica de l'Institut de Recerca Germans Trias i Pujol (IGTP) i del Servei de Genètica de l'Hospital Germans Trias (HUGTiP), coordinaran el projecte EURONET-NF que té com a objectiu millorar el diagnòstic genètic dels pacients amb neurofibromatosis i schwannomatosis (NF-SWN). El projecte involucra a 6 països i ha estat finançat per la Unió Europea amb aproximadament 1.6 milions d'euros per als pròxims 3 anys.

- Recerca

Desenvolupament in vitro d’una nova teràpia personalitzada per pacients amb neurofibromatosi tipus 2

Investigadors del grup de Genòmica Clínica de l'Institut de Recerca Germans Trias i Pujol (IGTP) i del Servei de Genètica de l'Hospital Germans Trias (HUGTiP), han desenvolupat una nova teràpia in vitro per recuperar part de la funció codificada pel gen NF2, el qual, quan està alterat, indueix el desenvolupament de la neurofibromatosi tipus 2. L'estudi s'ha publicat a la prestigiosa revista Molecular Therapy Nucleic Acids.

Més informació


Ignacio Blanco, Elisabeth Castellanos