The conference has been given by Virginia Nunes, UB-IDIBELL researcher, specialist in Wolfram syndrome; Aurora Pujol, IDIBELL and ICREA researcher, specialist in adrenoleukodystrophies; Teresa Casals, IDIBELL researcher, specialist in cystic fibrosis, and Maria Berdasco, IDIBELL researcher, specialist in Sotos syndrome. The session has had the collaboration of the Catalan Association of Scientific Communication (ACCC).
This initiative aims to bring to society the research results done in rare diseases at UB and IDIBELL to find new strategies for treatment and prevention.
Genetics of rare diseases
80% of rare diseases are hereditary. In this case it is essential to know the genetics of disease. During two decades Virginia Nunes has been studied the molecular genetics of Wolfram syndrome, a rare progressive recessive and neurodegenerative disease. It is characterized by the onset of different disorders in patient’s life: diabetes, optic atrophy, diabetes insipidus, deafness and other neurological and nephrology disorders. The mutations in WFS1 gene are responsible for the disease.
From laboratory to clinic
IDIBELL researcher Aurora Pujol leads the research group of Neurometabolic Diseases. Her recent research focuses on the X-linked adrenoleukodystrophy, a rare neurodegenerative disease that affects one in 17,000 people. The researcher have shown that oxidative stress is a major factor in this disease, and have tested in mice a cocktail of antioxidants that remit the locomotor system symptoms. Currently this cocktail is being tested in a clinical trial with 13 patients.
The most common rare disease
Cystic Fibrosis occurs in one in 2,000 to 5,000 people from the Caucasian population and mainly affects the lungs but also the liver, pancreas and intestine. Currently, no curative treatment is available, but there are therapies to improve the symptoms and the quality of life of patients. Basic research is needed to understand the pathophysiology and the genetic mutations that lead to disease. IDIBELL researcher Teresa Casals investigates new methods of diagnosis to know the effects of mutations in search of new biomarkers that may be useful as therapeutic targets to combat the disease.
Epigenetic approach
Sotos syndrome is a rare condition characterized by excessive growth of the body during early life with macrocephaly and motor and learning difficulties and is caused by mutations that inactivate the gene NSD1. IDIBELL researcher María Berdasco studies the changes that this mutation causes in the epigenome, ie chemical brands that carry genes, and also the connections between disease and a greater tumour willingness in patients.
New initiatives
During the conference, Lurdes Jordi, Director of the Valorisation Area of the Bosch i Gimpera Foundation has presented a new program launched with the objective of obtaining resources for research in rare disease at the University of Barcelona and its linked research centres.