I present the Isabel Gemio Foundation, which seemed to me a laudable initiative in addition to having enormous utility for families in the situation of having a child with a disease such as muscular dystrophy.
The ISABEL GEMIO FOUNDATION for Research Muscular Dystrophies and Other Rare Diseases It was created with the objective of promoting and financing lines of scientific, clinical and basic research, as well as encouraging the exchange of information between experts and those affected, and promoting the development of pharmacology in Rare Diseases.
Rare Diseases, including those of genetic origin, are those diseases with danger of death or chronic disability, which have a low frequency or prevalence (less than 5 cases per 10,000 inhabitants), as defined by the European Union.
Thousands of diseases are included under this denomination, which share a common problem: they have many diagnostic and follow-up difficulties, they have an unknown origin in most cases, they involve multiple social problems, there are few epidemiological data, they pose difficulties in the investigation due to In a few cases, they lack mostly effective treatments.
The Neuromuscular Diseases They are genetically determined diseases that produce progressive muscle weakness and high mortality in patients who suffer from them, often children. Neuromuscular diseases are a set of disorders of low prevalence but, as a whole, they constitute the most frequent group of rare diseases.
