About
The Group of Research in Neuromuscular diseases from Badalona (GRENBA) has a mixed format and is made up of clinical staff from the Neurology and Paediatric services at the Germans Trias i Pujol University Hospital and researchers specialised in basic research who work in the laboratory at IGTP.
The primary goal of this multidisciplinary team is to find solutions for patients with neuromuscular conditions. To accomplish this, the team leverages its vast clinical expertise in diagnosing and managing these patients, and has recently developed a robust patient database.
In the laboratory, the team has extensive expertise in genetic, epigenetic, transcriptomic and proteomic techniques to study the pathogenicity of prevalent neuromuscular diseases such as Myotonic Dystrophy type I, Glycogenosis type V and Duchenne Muscular Dystrophy, at the molecular level. The team is also experienced in generating cellular models derived from patients and in testing treatments in vitro, in vivo and in patients. Additionally, the researchers work on many collaborative projects with national and international investigators also involved in the study of these pathologies.
In the lab, the team possesses extensive expertise in genetic, epigenetic, transcriptomic, and proteomic techniques to study the pathogenicity of prevalent neuromuscular diseases such as Myotonic Dystrophy type I, Glycogenosis type V, and Duchenne Muscular Dystrophy at a molecular level. The team is also experienced in generating patient-derived cellular models and in trialling treatments in vitro, in vivo, and directly in patients. Moreover, the researchers collaborate on numerous projects with both national and international investigators who are also studying these pathologies.
Keywords: Neuromuscular disorders, neurology, paediatrics, muscle regeneration, pathological mechanisms.
Group Members
Gisela Nogales Gadea(ELIMINAR) – Group Leader
Mònica Suelves Esteban(ELIMINAR)
Alicia Martínez Piñeiro(ELIMINAR)
Alba Ramos Fransi(ELIMINAR)
Sebastián Figueroa Bonaparte(ELIMINAR)
Elisenda Cortés Saladelafont(ELIMINAR)
Agustí Rodriguez-Palmero Seuma(ELIMINAR)
Giuseppe Lucente(ELIMINAR)
Neus Rabaneda Lombarte(ELIMINAR)
Miriam Almendrote Muñoz(ELIMINAR)
Eduard Juanola Mayos(ELIMINAR)
Judit Núñez Manchón(ELIMINAR)
Renato Rafael Odria(ELIMINAR)
Pau Maestres(ELIMINAR)
Eva Coll Liesa(ELIMINAR)
Alexandra Mercado Amarilla
Andrés Roberto Pelaez Cruz(ELIMINAR)
Laura Monlleó Neila(ELIMINAR)
Elena Maqueda Castellote(ELIMINAR)
Maria del Mar Rovira Cruz(ELIMINAR)
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Group Leader
Team
Research lines
Myotonic Dystrophy type I
Myotonic dystrophy type I (DM1, also known as Steinert's disease) is the most prevalent dystrophy in adults (cases are 1:8000). Patients present a genetic defect, which affects many tissues and organs of the body. In the more severe cases, the congenital forms, patients' quality of life is severely compromised with affectation of the central nervous system. Today there is no treatment to stop the progression of this disease. Currently, the team are working in two areas of research: 1) testing in vitro the therapeutic value that antisense oligonucleotides can offer to these patients; 2) identifying new biomarkers with clinical applications for diagnosis, prevention of symptoms and/or treatment follow up.
Myotonic Dystrophy type II
Myotonic dystrophy type II has a similar genetic defect to Myotonic dystrophy type I, however the prevalence is lower and patients have milder presentation. In recent years, the new cases of myotonic dystrophy type II described have shown that there are many patients who have a non-classic debut symptomatology and that many cases remain undiagnosed. The aims of this line of research are to cover a broader range of symptomatic patients and to diagnose new myotonic dystrophy type II cases as well as to better define their clinical characteristics.
McArdle Disease or Glycogenosis type V
McArdle disease is a metabolic disease which has genetic causes. Patients present exercise intolerance with contractures and myalgias. In this line of research, the group is optimizing the genetic diagnosis strategies for this disorder. Additionally, they are evaluating exercise interventions for these patients, as it can have a serious impact on well-being and improve quality of life.
Duchenne Muscular dystrophy
Epigenetic changes in muscle pathologies
Epigenetic alterations have profound effects on human pathologies, because histone modifications and DNA methylation influence gene expression. In the laboratory, the team are characterizing epigenetic profiles that could be altered in prevalent muscular dystrophies, such as DM1 and DM2, and in rhabdomyosarcomas.
Deciphering the role of HDAC11 in skeletal muscle homeostasis, regeneration and muscular dystrophies
HDAC11 is highly expressed in muscle tissue and the group have recently reported that HDAC11 is required for balancing fiber type composition and for modulating mitochondrial lipid oxidation in skeletal muscles. In addition, loss of HDAC11 accelerates skeletal muscle regeneration, by acting on specific satellite cell functions and macrophage cytokine production. Current work is addressing HDAC11 functions in chronic muscle pathologies and in ageing.
Active projects
DM1-Heart: Searching biomarkers of heart damage in Myotonic Dystrophy type 1 patients
Funding agency: Instituto de Salud Carlos III (ISCII)
Agency code: PI22/00104
Start date: 01/01/2023
End date: 31/12/2025
DIMINUTOS, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Funding agency: Instituto de Salud Carlos III (ISCII)
Agency code: PI18/000713
Start date: 01/01/2019
End date: 30/06/2023
Exploring HDAC11 functions in muscular dystrophies
Funding agency: Ministerio de Ciencia e Innovación (MICINN)
Agency code: PID2020-118730RB-I00
Start date: 01/01/2021
End date: 31/12/2024
Exploring HDAC11 functions in Duchenne muscular dystrophy
Funding agency: AFM Telethon
Agency code: 23557
Scientific publications
Research Publications Gisela Nogales-Gadea
Research Publications Alicia Martínez Piñero
News
La Fundació ”la Caixa” dona suport a 2 projectes biomèdics punters a l’IGTP perquè les seves innovacions arribin a la societat
La Fundació "la Caixa" accelerarà l'arribada al mercat de 20 nous projectes biomèdics de gran impacte social en el marc de la convocatòria CaixaResearch Validate i Consolidate 2021. Dos dels projectes són liderats des de l'IGTP. El programa té com a objectiu impulsar la innovació i la transferència de coneixement i tecnologies en l'àmbit de la biomedicina i la salut, a més de crear noves empreses basades en la recerca.
L’IGTP i la Fundació Èpica de La Fura dels Baus presenten resultats del workshop ‘Sistemes Complexos’
Aquesta setmana passada s'han presentat els resultats preliminars d'una experiència pionera a Can Ruti, la col·laboració entre arts escèniques i ciència, o el que és el mateix, la col·laboració entre la Fundació Èpica de la Fura dels Baus i l'IGTP. El workshop i la performance resultant van tenir lloc el passat mes de novembre, ara els investigadors treballen amb les dades recollides a partir de l'experiència, que seran d'utilitat per als respectius projectes de recerca.
Contact
Gisela Nogales Gadea
(+34) 93 033 05 30