The lipodystrophy, except those associated with antiretroviral therapy highly active patients receive HIV infected are extremely rare diseases, with an estimated prevalence of 1:200.000-1:1.500.000, which means they are difficult to diagnose properly and therefore adequately and efficiently treat.
Patients with rare diseases are usually treated by doctors with limited knowledge and / or part thereof which leads them to go to different specialists usually untrained in such conditions, to undergo various diagnostic tests, sometimes unnecessary, and repeated frequently, and to receive updated information when not sufficiently accurate.
Being necessary to implement actions that impact awareness / public awareness and to make visible the Lipodystrophies as the set of rare or low prevalence and characteristics of Mimas was declared World Day of Lipodystrophies March 31, reference date in which, combining efforts from different areas and social organizations to organize joint activities to raise awareness of these diseases, their characteristics, treatments, existing resources for patients, etc.
Then attach the I PROGRAM ADVANCE INTERNATIONAL SYMPOSIUM lipodystrophies
I INTERNATIONAL SYMPOSIUM lipodystrophies
Totana, 18, 19 and October 20, 2013
Mosaic Lounge, Hotel Executive Sport
Totana (Murcia)
PROVISIONAL AGENDA
Friday October 18, 2013
Morning
Symposium
Lipodystrophy: Bringing the laboratory to the street
9:00 How do we know we have a pathogenic mutation?
Dr. Sofia Sanchez Iglesias
Post-Doctoral Researcher, UETeM-CIMUS, Universidade de Santiago
Colloquium: questions from the audience.
9:30 When a protein goes wrong: the work of a molecular biologist
Alejandro Ruiz Riquelme
Pre-Doctoral Researcher, UETeM-CIMUS, Universidade de Santiago
Colloquium: questions from the audience.
10:00 Why my son has no body fat: genetic and acquired Lipodystrophies
Dr. Vanessa López González
Medical Assistant Medical Genetics Unit, University Hospital Virgen de la Arrixaca, Murcia
Colloquium: questions from the audience.
10:30 orphan drugs (I): the Spanish experience with recombinant human leptin
Prof. David Araújo-Vilar
Professor of Medicine, UETeM-CIMUS, Universidade de Santiago
Colloquium: questions from the audience.
11:00 Orphan drugs (II): Administrative position in the world of human recombinant leptin (Metreleptin)
Medical Director representative of Bristol-Myers-Squibb
Colloquium: questions from the audience
11:30 Coffee
12:00 Questions, questions and concerns regarding lipodystrophies
Debate-talk with the audience (all speakers)
13:00 to 14:00 personal medical consultation with a specialist (Prof. Araujo-Vilar)
Afternoon
Program
Saturday October 19, 2013
Morning
10:00 New Seipina associated neurodegenerative syndrome.
Celia's encephalopathy
¡ Clinical Phenotype
Dr. M.
Rosario Domingo-Jimenez and Dr. E.
Guillén-Navarro
Section of Neuropediatrics and Medical Genetics Unit.
University Hospital Virgen de la Arrixaca.
Murcia
¡ Genetic Basis.
Expression Studies
Prof. David Araújo-Vilar
Professor of Medicine, UETeM-CIMUS, Universidade de Santiago
11:00 Advances in the understanding of the structure and function of the seipina
Prof. Jesús R.
Requena
Associate Professor, CIMUS, University of Santiago de Compostela
European Consortium Lipodystrophies 12.00.
International research lines lipodystrophy.
13.00 Experience forum involving patients in Europe.
Representative Forum in London.
18.00 Living with a rare disease "Lipodystrophies".
Testimonials
Yolanda "Difficulties in access to treatment"
Francisco "force of life"
Elena "Experience in participating in a clinical trial in Lipodystrophies"
SUNDAY 20:
9 am: Breakfast.
From 10 to 12 h.: Symposium Papers I and VI of Congress (3rd session).
Closing of the VI Congress and Symposium I Lipodystrophies by authorities.
12 hours: Sightseeing Tour monumental surroundings.
From 12h to 14h.
Dynamics with participating children.
14 h: Farewell lunch (Location: TBD).
