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.

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.

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.

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.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, with a prevalence of 1 in 3500 boys world-wide. DMD is a genetic disorder characterized by a continued muscle degeneration, progressive muscle weakness, impaired locomotion and premature death by respiratory and cardiac failures. Unfortunately, DMD is an incurable disease and patients can only receive palliative therapies to delay symptoms and disease progression. There is no doubt that new therapeutical targets are needed to treat this devastating disease.  Based on previous results of our group, we envision HDAC11 as a new potential therapeutic target for DMD and in the lab we are exploring deeply the role of HDAC11 in the pathological context of muscle dystrophies. 

Deciphering the role of HDAC11 in skeletal muscle homeostasis, regeneration and muscular dystrophies

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

PI: Gisela Nogales
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

PI: Gisela Nogales
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

PI: Mònica Suelves
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

PI: Mònica Suelves
Funding agency: AFM Telethon
Agency code: 23557
Start date: 15/09/2021
End date: 30/01/2024