The IX International Congress of Rare Diseases will meet in Murcia to doctors, researchers and experts, relatives and affected by rare pathologies, in a meeting to be held from November 17 to 20 organized by the Association of Rare Diseases of Genes and the University Catholic San Antonio de Murcia (UCAM).
In addition, the congress is co-organized by the Association of Relatives and Affected Lipodistrofias (AELIP), the delegation of the Spanish Federation of Rare Diseases (FEDER) in Murcia and the Spanish Association of Congenital Adrenal Hyperplasia.
The program includes round tables and lectures on pathologies of low prevalence and includes satellite events such as the development of the First Conference of Congenital Adrenal Hyperplasia, the First National Meeting of Relatives and People with Pigmenti Incontinence or the Fourth Symposium of Lipodystrophies, as well as the sample Photographic exhibition "Expression of Hope" and the 1st Exhibition on Rare Diseases and support products.
The program will begin tomorrow, Thursday, November 17, with the inaugural ceremony by authorities and a testimonial table in which you can hear the testimony of people living with a rare disease.
Next, a roundtable on information and planning systems in rare diseases will be held, which will discuss the role of autonomic registries in the State Register of Rare Diseases, the Information Service on Rare Diseases and the Plan for Comprehensive Care in Diseases Rare from the Region of Murcia, and will present the study of socio-health needs in rare diseases Serious III and the conclusions of the analyzes of the ER Observatory.
In the afternoon, two round tables will be held, one on social services and inclusion, which will discuss the Guide to Disability and Rare Diseases in the Region of Murcia, Inclusive Education, Family and Early Care, Disability Pensions or Will be presented the conclusions of the IV Ibero-American Meeting of ER that took place in Uruguay.
The other will be about comprehensive care and, among other issues, tools will be presented to provide psychological support from the associative movement such as the CITA platform, or talk about physical exercise, intervention and social transformation.
The next day the day will begin with a round table entitled "Waiting for Godot: How to accelerate the diagnosis and start of treatment", followed by another called "CSUR in congenital errors of metabolism" and another on health care and networking In which the INNOVACare project will be presented, will talk about pediatric palliative care or European referral networks.
Later there will be another roundtable in which the latest advances in bone dysplasias will be analyzed and will include presentations on genetic analysis of skeletal dysplasias using new technologies, advances in orthopedic surgery in the treatment of these pathologies or current state of Osteogenesis imperfecta.
In the afternoon we will discuss cutaneous manifestations of Xeroderma Pigmentosum, the importance of basic research in the fight against Niemann Pick type C, new diagnostic options in intellectual disability or application of computational chemistry for the discovery of molecular chaperones in the context of Fabry disease.
Next, we will talk about the multidisciplinary approach of infrequent lipodystrophies and will present the Guide for diagnosis and treatment of lipodystrophies.
On Saturday 19, the latest advances in research and therapy in hereditary retinal diseases will be presented, as well as the latest advances in the diagnosis of rare diseases.
Thus, among other issues, we will talk about the organization of a genetic diagnosis center, genetic diagnosis techniques in rare diseases ArrayCHG and NGS or the program for cases without diagnosis IIUD SpainUDP.
This day will also serve to analyze the social worker's roles regarding rare diseases and the needs of those affected and their families.
Several workshops on myofunctional therapy and eating difficulties, communication skills and techniques, sexuality for adolescents and parents, lipodystrophy, and psychology and rare pathologies have already been planned in the afternoon.
In addition, this day will also take place different lectures and round tables on congenital adrenal hyperplasia, diagnosis and treatment of this pathology, surgical stages, needs for psychosocial care association.
The day will be closed with a lecture on the advances in genetics in rare diseases, the screening of the short film "Counting Stars" of the Spanish Association of Mastocytosis and the official act of closure.
The full program and the speakers of the IX International Congress can be consulted on the website http://www.congresoenfermedadesraras.es/.
