Neuromuscular and Neuropaediatric Research

Guillem Pintos Morell
Jaume Coll i Cantí
Gisela Nogales Gadea

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:

Research lines

   

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

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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.

Research projects

ONGOING PROJECTS

 

Miguel Servet Contract 


Code: MS14/00032
Principlal Investigator Gisela Nogales                                                                                                 
Start Date: 01/01/2015
End Date: 30/06/2019

Terapia de oligonucleótidos "anto-sentido" en modelos celulares derivados de pacientes con enfermedad de Steinert

Code: CP14/00032
Principal Investigator Gisela Nogales                                                                                                 
Start Date: 01/01/2015
End Date: 31/12/2019

La enfermedad de Steinert es la causa más frecuente de distrofia en adultos. Se puede presentar en formas
graves, en el nacimiento, la infancia o la vida adulta. La enfermedad es progresiva, multi-sistémica y afecta
seriamente a la vida. Actualmente no existen tratamientos para detener la progresión o curar la sintomatología
asociada. A través de estudios genéticos y transcriptómicos, se acepta que los principales síntomas de la
enfermedad son causados por la acumulación tóxica del ARN del gen DMPK, que en estos pacientes contiene una
expansión nucleotídica causante de la alteración transcriptómica y proteómica celular. Los oligonucleótidos `antisentido'
(AOs) se han propuesto como una opción terapéutica, ya que pueden unirse específicamente a este ARN
tóxico y conducir a su degradación. Aunque se han obtenido resultados esperanzadores administrando AOs en
modelos transgénicos de ratón y células, poco se sabe del efecto de estas moléculas en líneas celulares primarias
obtenidas de pacientes. El objetivo principal de esta propuesta es analizar el efecto de los AOs en la alteración
causada por el ARN toxico en líneas de cultivos celulares primarios de pacientes con Steinert y controles. Para
ello se obtendrán líneas celulares primarias de sangre, biopsia de piel y biopsia muscular. Estas células se
analizarán para determinar los efectos de los AOs en la toxicidad de ARN, la estabilidad de DMPK y la
inestabilidad de la expansión. Los resultados obtenidos supondrán un paso adelante para evaluar la potencial
utilidad terapéutica de los AOs en pacientes con enfermedad de Steinert. 

 

Application of more senstive genetic diagnostic techniques, study of phenotypic and prognostic modulators in myotonic dystrophy patients

Code: PI15/01756
Principle Investigator Gisela Nogales                                                                                                
Start Date: 01/01/2016
End Date: 31/12/2018

More information

Contact

Gisela Nogales Gadea

(+34) 93 497 86 84

gnogales(ELIMINAR)@igtp.cat