Research

Presentació

El Grup de Recerca Neuromuscular de Badalona (GRENBA) està integrat per personal clínic dels serveis de Neurologia i Pediatria de l'Hospital Universitari Germans Trias i Pujol i per experts en recerca bàsica al laboratori de l'IGTP.

Aquest equip multidisciplinari té com a objectiu principal la cerca de solucions per als pacients amb trastorns neuromusculars. Per a aconseguir això, l'equip recorre a la seva àmplia experiència clínica en el diagnòstic i el tractament d'aquests pacients, i recentment ha creat una gran base de dades de pacients.

Al laboratori, el grup compta amb una àmplia experiència en tècniques genètiques, epigenètiques, transcriptòmiques i proteòmiques per a estudiar la patogènia de malalties neuromusculars prevalents com la distròfia miotònica de tipus I, la glicogenosi de tipus V i la distròfia muscular de Duchenne, a escala molecular. L'equip també té experiència en la generació de models cel·lulars amb cèl·lules de pacients i en l'avaluació dels tractaments in vitro, in vivo i en pacients. A més, els investigadors treballen en molts projectes de col·laboració amb investigadors nacionals i internacionals que també estudien aquestes malalties.

Paraules clau: trastorns neuromusculars, neurologia, pediatria, regeneració muscular, mecanismes patològics.

Group of Research in Neuromuscular Diseases from Badalona (GRENBA)

Líder/s de grup

  • Gisela Nogales Gadea
    Gisela Nogales Gadea

    Gisela Nogales Gadea

    For more than 22 years, Dr Gisela Nogales-Gadea has been working as a biomedical researcher studying neuromuscular diseases in different laboratories around the world. She completed her doctoral thesis program at the Vall d'Hebron Research Institute (VHIR). As a postdoctoral researcher, she obtained a Sara Borrell contract from Instituto de Salud Carlos III (ISCIII), which allowed her to strengthen her specialisation in immune-based neuromuscular diseases at the neuromuscular diseases laboratory of the Sant Pau Research Institute (IR Sant Pau) and at the School for mental health and neuroscience of the University of Maastricht (The Netherlands). Following the Miguel Servet program of ISCIII that was awarded to her in 2015, she formed the Badalona Neuromuscular Research Group (GRENBA) at Germans Trias i Pujol Research Institute (IGTP). In 2023, she was awarded a MICINN research consolidation incentive program, through which GRENBA was consolidated as a research group at IGTP. Dr Nogales-Gadea's team efforts are aimed at improving the management and finding new treatments for patients suffering from various neuromuscular diseases, especially in the area of muscular dystrophies.

    Contact: gnogales(ELIMINAR)@igtp.cat
    ORCID: 0000-0002-7414-212X

  • Mònica Suelves Esteban
    Mònica Suelves Esteban

    Mònica Suelves Esteban

    Dr Mònica Suelves is a molecular and cell biologist with more than 20 years of experience and a solid background in the fields of myogenesis, tissue regeneration, muscular dystrophies, stem cells and epigenetics. Dr Suelves completed her doctoral thesis at Centro de Investigación y Desarrollo - Consejo Superior de Investigaciones Científicas (CID-CSIC, Barcelona). She was trained as a postdoctoral researcher for 10 years at world-leading institutions such as Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC, Strasbourg, France), Institut de Recerca Oncològica (IRO, Barcelona), Centro de Regulación Genómica (CRG, Barcelona) and Centro de Medicina Regenerativa de Barcelona (CMRB, Barcelona). In 2006, she was awarded by the Ramón y Cajal Program (Spanish Ministry of Science and Innovation) and, in 2010, she started her stage as principal investigator at Institute of the Predictive and Personalized Medicine of Cancer (IMPPC), currently merged with the Germans Trias i Pujol Research Institute (IGTP). In 2020, Dr Suelves joined the Neuromuscular Unit at IGTP (GRENBA: Badalona Neuromuscular Research Group) and, in 2023, she was recognided as an established researcher by the Spanish Ministry of Science and Innovation (MICINN). Currently, Dr Suelves' research focuses on addressing new pathophysiological mechanisms in neuromuscular diseases and the search for treatments for patients with muscular dystrophies.

    Contact: msuelves(ELIMINAR)@igtp.cat
    ORCID: 0000-0001-7095-5804

Línies de recerca

  • Myotonic dystrophy type 1: registries, diagnosis, pathological mechanisms, phenotype modulation, biomarkers, and new therapies
  • McArdle disease: registries, diagnosis, pathological mechanisms, phenotype modulation, biomarkers, and new therapies
  • Duchenne muscular dystrophy: fibrosis, fatty deposition, inflammation, muscle regeneration, metabolism, HDAC11, new therapeutic targets
  • Sarcopenia: muscle atrophy, stem cell exhaustion, mitochondrial dysfunction, metabolism, HDAC11, new therapeutic targets

Projectes actius

DM1-Corazón: Buscando biomarcadores de daño cardíaco en pacientes con Distrofia Miotónica tipo 1

PI: Gisela Nogales
Funding agency: Instituto de Salud Carlos III (ISCII)
Agency code: PI22/00104
Duration: 01/01/2023 - 31/12/2025

DM1-HEART: Searching biomarkers of heart damage in Myotonic Dystrophy type 1 patients

PI: Sebastián Figueroa Bonaparte
Funding agency: Proyectos del Legado JMC de Can Ruti
Agency code: 2022_55
Duration: 2023 - 2027

DM1-HEART-EXTEND: Extending the search for biomarkers of heart damage in Myotonic Dystrophy type 1

PI: Gisela Nogales Gadea
Funding agency: AFM Telethon
Agency code: #24757
Duration: 2023 - 2026

Exploring HDAC11 functions in muscular dystrophies

PI: Mònica Suelves
Funding agency: Ministerio de Ciencia e Innovación (MICINN)
Agency code: PID2020-118730RB-I00
Duration: 01/01/2021 - 31/12/2024

Investigación translacional en distrofia miotónica para el desarrollo de un tratamiento avanzado de RNA (DISMIOTAXT project)

PI: Gisela Nogales
Funding agency: Proyecto de Incentivación de la consolidación investigadora del Ministerio de Ciencia e Innovación
Agency code: CNS2022-135519
Duration: 2023 - 2025

Investigación traslacional sobre la distrofia miotónica para el desarrollo de una terapia avanzada basada en ARN

PI: Gisela Nogales
Funding agency: Ministerio de Ciencia e Innovación
Agency code: CPP2022-009960
Duration: 2023 - 2025

Past projects

DIMINUTOS, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis

PI: Gisela Nogales
Funding agency: Instituto de Salud Carlos III (ISCII)
Agency code: PI18/000713
Duration: 01/01/2019 - 30/06/2023

Exploring HDAC11 functions in Duchenne muscular dystrophy

PI: Mònica Suelves
Funding agency: AFM Telethon
Agency code: 23557
Duration: 15/09/2021 - 30/01/2024

Publicacions científiques

Publicacions destacades de 2023

Mütze U, Gleich F, Barić I, Baumgartner M, Burlina A, Chapman KA, Chien YH, Cortès-Saladelafont E, De Laet C, Dobbelaere D, Eysken F, Gautschi M, Santer R, Häberle J, Joaquín C, Karall D, Lindner M, Lund AM, Mühlhausen C, Murphy E, Roland D, Ruiz Gomez A, Skouma A, Grünert SC, Wagenmakers M, Garbade SF, Kölker S, Boy N. Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium. J Inherit Metab Dis. 2023 Mar;46(2):220-231. DOI: 10.1002/jimd.12572.

Launay N, Ruiz M, Planas-Serra L, Verdura E, Rodríguez-Palmero A, Schlüter A, Goicoechea L, Guilera C, Casas J, Campelo F, Jouanguy E, Casanova JL, Boespflug-Tanguy O, Vazquez Cancela M, Gutiérrez-Solana LG, Casasnovas C, Area-Gomez E, Pujol A. RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia. J Clin Invest. 2023 Jul 17;133(14):e162836. DOI: 10.1172/JCI162836.

Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization. Genome Med. 2023 Sep 7;15(1):68. DOI: 10.1186/s13073-023-01214-2.

TOTES LES PUBLICACIONS

Informació addicional

Doctoral theses

Title: Caracterización clínica y genética de una serie de pacientes con distrofia miotónica tipo 1
Author: Miriam Almendrote Muñoz
Supervisors: Gisela Nogales Gadea, Alba Ramos Fransi
University: Universitat Autònoma de Barcelona (UAB)
Date of defense: 17/11/2023

Two more doctoral theses will be presented during the 2023-2024 academic year, from Judit Nuñez Manchón (Supevisor: Gisela Nogales Gadea) and Renato Rafael Odria (Supervisor: Mònica Suelves).

Master’s theses

Title: Study of the normal population provides new information about the prevalence of Myotonic Dystrophy type 1 and Oculopharyngeal Muscular Dystrophy
Author: Nacho Jorda Llorens
Supervisors: Gisela Nogales Gadea
University: Universitat Autònoma de Barcelona (UAB)

Title: HDAC11: a novel modulator of ageing skeletal muscle
Author: Aina Cardús Garcia
Supervisors: Mònica Suelves
University: Universitat de Barcelona

Others

The Group of Research in Neuromuscular Diseases from Badalona unveils its new logo

(May 2023) The group previously known as Neuromuscular and Neuropediatric Research Group has updated its name to Badalona Neuromuscular Research Group (GRENBA) and has created its own logo. For the design process, students from the Escola d'Art Superior Pau Gargallo, Badalona, visited the research group at IGTP and presented various proposals. Choosing the logo was a challenge, as many were highly creative and well-designed, but in the end, Melissa Abigail Alava Mieles' design emerged as the winner. The research group would like to thank all students for their involvement in this project, as well as professors Miquel Aregay, Montserrat Sayol, and Júlia Cuyàs.

Dr Gisela Nogales Gadea awarded in the Consolidation Researcher Program 2022

(June 2023) The Ministry of Innovation and Science has awarded the Consolidation Researcher Program 2022 to Dr Gisela Nogales Gadea, leader of the Badalona Neuromuscular Research Group (GRENBA) at IGTP. This competitive program, included within the State Programme to Develop, Attract, and Retain Talent of the State Plan (and funded with European funds from the Recovery, Transformation, and Resilience Plan), aims to promote the consolidation of the research career of investigators, encouraging the creation of permanent positions in the affiliated institutions and facilitating the strengthening of the research line through the funding of a project of their own. Dr Nogales started GRENBA in 2015, together with clinical staff from the Neuromuscular Unit of the Neurology Service and the Neuropaediatrics Unit of the Paediatrics Service at HUGTiP, within the framework of a Miguel Servet program funded by Instituto de Salud Carlos III (ISCIII). The award of this program represents a new boost for this team, as it allows the incorporation of Dr Nogales as IGTP staff, and funding for a research project, in which third-generation genetic sequencing technology will be implemented to improve the diagnosis, prognosis, and response to therapy of patients with myotonic dystrophy type 1.

Notícies

- Recerca

Nous models cel·lulars de distròfia miotònica tipus 1 reflecteixen la diversitat clínica de la malaltia

Els models cel·lulars utilitzats per buscar noves teràpies per a la distròfia miotònica tipus 1 no solen tenir en compte la diversitat de subtipus que presenten els pacients. Una recerca liderada per investigadors de l'IGTP ha donat un pas endavant desenvolupant tres nous models que representen aquesta heterogeneïtat. Els resultats s'han publicat a la revista iScience.

Can Ruti celebra la jornada de malalties minoritàries denotant la importància de la recerca per ajudar als pacients

El dijous de la setmana passada, 29 de febrer, es va celebrar la 'Jornada dia internacional malalties minoritàries' a la sala d'actes de l'Hospital Germans Trias. Professionals de la salut i investigadors de l'Hospital i l'IGTP van explicar els seu treball per avançar en l'àmbit de les malalties minoritàries. També van intervenir representants d'associacions de pacients d'aquestes malalties.

+ Notícies