Investigación Neuromuscular y Neuropediátrica

Gisela Nogales Gadea

The Neuromuscular and Neuropediatric Research Group has a mixed format and is made up of clinical staff from the Neurology and Pediatric services at the Germans Trias i Pujol University Hospital and specialized basic researchers in the laboratory at the IGTP.

This multidisciplinary team has the main objective of finding treatments for neuromuscular and neuropediatric diseases that have no cure yet. To achieve this, the team relies on its extensive clinical expertise in the diagnosis and management of these patients, and it has recently built a powerful 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 and II and Glycogenosis type V 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.


Members of the Group from the Neurology and Pediatric Services

Members of the Group at the IGTP Laboratory

Research Publications Gisela Nogales-Gadea

Research Publications Alicia Martínez Piñero

Research Publications Mònica Suelves

Research Publications Alba Ramos Fransi

Líneas de investigación

Group Leader and Principal Investigator Gisela Nogales-Gadea

Dr Nogales has extensive experience in the study of Neuromuscular Disorders. In recent years she has focused her research on Myotonic Dystrophy type 1, a rare multisystemic disease with very heterogeneous manifestations. She has contributed enormously to the research in McArdle disease, the most frequent form of muscle glycogenosis. In both diseases, in collaboration with outstanding researchers in this area of study, she has participated in the elaboration of patients' registries, improvements in the diagnosis, advances in understanding their molecular pathomechanisms and testing of therapies.

Research line 1: 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.

Research line 2: 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.

Research line 3: 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.

Principal Investigator Alicia Martínez Piñeiro

Dr Martinez has extensive expertise and experience in the management of patients with Neuromuscular Disorders and research into these diseases.

Together with the multidisciplinary team Dr Martinez recently obtained accreditation from the Catalan Government for the Neuromuscular Unit, this is similar to the European ERN accreditation. She combines clinical work, research and entrepreneurship, has registered a patent and set up a spin-off company Time is Brain", which is developing technology to improve the management of stroke patients. The company has received initial investment and is currently in the process of obtaining more.

Principal Investigator Mònica Suelves

Dr Suelves has extensive experience in skeletal myogenesis and epigenetics. During her career, Dr. Suelves has explored many aspects of these two important areas including signaling transduction pathways regulating myoblast differentiation, the underlying mechanisms of muscle regeneration, where adult muscle stem cells play a major role, and epigenetic changes defining muscle stem cell identity. She uses diverse study models, which include primary skeletal muscle cells to recapitulate the myogenic process in vitro and animal models to study the skeletal muscle regeneration process on injury and in dystrophic muscles.

Research line 1: 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.

Research line 2: Deciphering the role of HDAC11 in skeletal muscle

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.

Principal Investigator Alba Ramos Fransi

Dr Ramos is experienced in the management and research of patients with Neuromuscular diseases. She is PI of a project in Myotonic Dystrophy currently being developed, to improve diagnosis and to test treatments. She has participated in the elaboration of clinical guidelines, elaboration of patients' registries, and participated in research projects of different dystrophies.

Projects

 

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

Code: PI18/00713
Principal Investigator Gisela Nogales-Gadea                                                                                              
Start Date: 01/01/2019
End Date: 31/12/2021

 

Més informació

Contacto

Gisela Nogales Gadea

(+34) 93 033 05 30

gnogales(ELIMINAR)@igtp.cat