“Before they cure me, I want them to take care of me” is the motto of the XI International Congress of Rare Diseases held yesterday and today, organized by the Association of Rare Diseases D’Genes and the Catholic University San Antonio, where it takes place .
The congress has the collaboration of the International Association of Relatives and People Affected by Lipodystrophies (AELIP), the Ibero-American Alliance of Rare Diseases (ALIBER) and the Spanish Federation of Rare Diseases (FEDER).
The congress began yesterday with a testimonial table in which a young woman affected by Enhler Danlos, the father of a child with Duchenne’s Dystrophy and a young woman suffering from achondroplasia transmitted what is supposed to coexist with a rare pathology.
Later the official inauguration took place, with the presence of the president of D’Genes and the Spanish Federation of Rare Diseases (FEDER), Juan Carrión; the general director of Disability Policies of the Ministry of Health, Consumption and Social Welfare, Jesús Celada; the Minister of Health of the Region of Murcia, Manuel Villegas; the president of the International Association of Relatives and People Affected by Lipodystrophies (AELIP), Naca Eulalia Pérez de Tudela; and the vice-chancellor of Research of the UCAM, Estrella Núñez.
During two days, this Congress brings together researchers, professionals and students from branches such as health, social work or education, representatives and members of associations of patients and family members and people who live with rare diseases.
The figures support this forum: half a hundred speakers, representatives of a large number of patient associations, 700 registered and follow-up in a score of countries, especially in Latin America, as it is broadcast by streaming.
The Congress will serve to publicize research lines that are being carried out, advances in rare diseases, good practices in this area, elements or innovative programs or diagnostic updates.
The first round table, entitled “Good practices from the Administration in rare diseases”, counted with the intervention of the Health Minister of Madrid, Enrique Ruíz Escudero; the Minister of Health of Murcia, Manuel Villegas; and the director of FEDER, Alba Ancochea.
Later on another table talked about investing in treatments as a matter of future, and in particular on good practices for the start-up of a treatment, individualized medicine in rare diseases, home therapy or map of orphan drugs.
In the afternoon, some current research lines are addressed, such as advances in systemic autoinflammatory syndromes, animal models in rare diseases such as dyskeratosis congenita or applications of computational chemistry in rare pathologies. Likewise, new advances in gene therapy research were discussed and in particular the example of Wilson’s disease; or a line of work around lysosomal storage diseases.
In addition, at the last table of the first day there was talk of neurodegenerative diseases with iron brain accumulation; Molecular bases of bone sclerosing disorders; collaborative projects, clinical trials and basic research in ELA in Spain; or masterful formulation in infrequent pathologies.
Today, Saturday, the XI International Congress of Rare Diseases will continue with three tables on corporate social responsibility, innovative elements and diagnostic updates. In addition, practical workshops on flamenco have been programmed as therapy for special education, food for patients with ALS, ozone therapy or practical aspects of the treatment of epilepsy.
In addition, two meetings of families will take place today, one from D’Genes Epilepsia and another D’Genes X Fragile. Likewise, the VI Symposium of Lipodistrofias organized by AELIP is also celebrated.