February 29 is Rare Disease Day and we have organized the event on the occasion, to highlight how research is key to fighting these diseases, which affect an estimate of 263–446 million people worldwide.
Fighting the Rare is a glimpse into research on Lafora disease, a rare neurodegenerative condition, through the testimonies of researchers, patients and their relatives.
Presentation
Screening of the documentary Fighting the rare (Lluitant en minoria)
Date: Thursday, 29 Feb at 12h
Place: Fèlix Serratosa, PCB
Presented by: Dr. Jordi Duran, IRB Barcelona Alumni, currently a Group Leader at IQS (Institut Químic de Sarrià) & Jaume Duran, co-creator, film director and screenwriter.
Lafora disease is a rare neurodegenerative condition that most commonly starts as epileptic seizures in adolescence that progress rapidly with a severe neurodegeneration. The extent of the disease is devastating. Although the child is born with Lafora, the disease typically does not manifest itself until adolescence. Children grow up normally, with no perceivable problems until they begin to suffer with seizures. That is one of the cruelest things about Lafora. A normal, beautiful and apparently healthy child who has everything to live for is faced with nothing more than a “death sentence”. Therapy is primarily palliative and aimed at reducing seizures. From manifestation, which is normally the first seizure, a Lafora patient will die typically within 10 years. Currently, there is no cure for this devastating disease.
Fighting the Rare is a documentary on the importance of biomedical research to find treatments for rare diseases.