G N - 5 Neuromuscular and Neuropaediatric Research
The neuromuscular and neuropediatric research group is made up of clinicians belonging to the hospital neurology and pediatric services and specialized basic researchers in the laboratory. This multidisciplinary team has the main objective of finding treatments for neuromuscular and neuropediatric diseases that have no cure yet. For this purpose the team relies on its extensive clinical expertise in the management of these patients and also will analyse a powerful patient database, which is under construction. In the laboratory, the team has broad expertise in genetic, transcriptomic and proteomic techniques to study the pathogenicity of the disease at the molecular level. The team is also experienced 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 this line of research.
The group is part of the CIBER Network for Biomedical Research of the Institut Carlos III; CIBERER (Rare Diseases).
The three joint Principal Investigators are:
- Guillem Pintos Morell, Germans Trias I Pujol Hospital Paediatric Service (See Dr Pintos's publications)
- Jaume Coll i Cantí, Germans Trias I Pujol Hospital Neurology Service (See Dr Coll's publications)
- Gisela Nogales Gadea, Germans Trias I Pujol Research Institute (See Dr Nogales's publications)
Myotonic distrophy type I
Myotonic dystrophy type I is the most prevalent dystrophy in adults 1:8000. Patients present a genetic defect, that affects many tissues and organs of the body. In the more severe cases, the congenital forms, patients present a serious life compromise, with affectation of the central nervious system. Today there is not treatment to stop the progression of this disease. We are working currently in two research areas in this disease, 1) testing the therapeutic value that antisense oligonucleotides can offer to these patients in vitro; 2) identifying new biomarkers for diagnosis, symptoms prevention, or treatment follow up.
Myotonic dystrophy type I (DM1), also known as Steinert's disease, is the most common form of muscular dystrophy affecting approximately 1 in 8,000 people worldwide
Myotonic Distrophy type II
Myotonic dystrophy tipe II has a similar genetic defect than myotonic dystrophy type I, however the prevalence is lower and patients have a more mild presentation. In the last years, the new described cases of myotonic dystrophy type II have shown that there are many patients, which have a non-classic debut symptomatology, and that many cases remain underdiagnosed. In this line of resarch we are trying to cover a broader range of sympatomatic patients to diagnose new myotonic dystrophy type II cases, and define their clinical characteristics.
McArdle Disease or Glycogenosis type V
McArdle disease is a metabolic disease with has genetic causes. Patients present exercise intolerance with contractures and myalgias. In this line of research, we are optimizing the genetic diagnosis strategies for this disorder. Furthermore we are evaluating exercise intervention in the patients, which can have a serious impact in the well-being and improving of patients' quality of life
Gisela Nogales Gadea
(+34) 93 497 86 84