Early diagnosis and the momentum of translational research, key in rare diseases.

Spain, July 2012.- it is estimated that currently exist between five thousand and eight thousand rare different diseases, affecting nearly three million Spaniards, of which 80 per cent are of genetic origin. The reality of these pathologies and their patients have been analyzed at the headquarters of the WTO in the day rare diseases ” by experts, scientists, political representatives and concerned, with the aim of making visible the problems that society faces to give solutions to the needs that generate this type of pathologyaggravated by the current economic situation.

In this seminar, organized by the Foundation for the formation of the WTO with the Spanish Association of rare diseases AER-ACMEIM, analysed aspects related to early detection and treatment of these pathologies, underlining the importance of early diagnosis with tools such as neonatal metabolic screening to obtain a better result in the pronostico of these patients. This simple test, popularly known as proof of the heel ”, takes place in the first days of life through heel Lance. It is aimed at the early detection of metabolic disorders in which there is an effective intervention that favourably modifies the prognosis of situations subject to screening.

Its realization, based on the evidence, is spreading increasingly at European level, at the national level and in the various autonomous communities, thanks to new technologies that reduce the test. In this sense, it is necessary to neonatal metabolic screening is carried out in a uniform manner in all the autonomous communities since that is essential for the detection of diseases in order to obtain a favorable outcome in its evolution after.

De izquierda a derecha: Ramón Garrido, Presidente Colegios de Médicos de Ciudad Real; Ricard Gutiérrez, Vice President of the WTO; Ana Chacon Assistant Director of information and attention to the patient of the community of Madrid; Jesus Ignacio Meco, President of the Spanish Association of rare diseases; Mercedes Martinez; Metabolopatias unit of the Hospital Ramón y Cajal and Dr. Jerome Fernandez, Deputy Secretary of the WTO).

Other paragraphs of the day has been dedicated to translational research that aims to direct application in the clinic. In regards to these diseases, broke from the premise that there is still much to do in this field, how to develop new lines of research than what is currently being done that, on occasions, is little practice in order to obtain good results in the evolution of these pathologies, and that translates, currently few therapeutic options.

It is essential, as you remarked, joint efforts between doctors and patients to pay attention that goes beyond the specific clinical assistance, extending towards a more multidisciplinary attention to greater involvement of primary careIn addition to specialties specific in each case, with the incorporation also of social services and psychological support when needed.

Coinciding with this day of discussion was the new Spanish Association of rare diseases AER-ACMEIN, chaired by Jesus Ignacio Meco at the headquarters of the WTO.

According to its managers, this new partnership part of the absence of any generic Association in rare diseases at the national level for people with a specific pathology of these features the need for the existence of AER-ACMEIM.

One of its main objectives is, Furthermore, provide families affected a framework partnership to work for the benefit of themselves, and that they can develop their work under the umbrella of this Association, and, at the same time, defend their rights and build its future.

The Association also aims to work together with the health sector, hence its interest in promoting a research fellowship in order to combine concepts, and added support, which would be intended to provide support in this field well to health professionals, innovative companies, associations of patients, etc.

The term of registration and receipt of projects is open from 22 June, until October 1, 2012. The bases can be consulted here.

Spanish Association of rare diseases AER-ACMEIM

AER-ACMEIM was born from a need. Spain has a large associative framework around rare diseases, a conglomerate of associations and federations populate our peninsula, curiously there is no generic Association National rare disease, it is here where is born the need to cited. ACMEIM as Castile Association has seen since its foundation how have United people of different ailments and regions. He have been born as metabolic Association does not make us ignore the people affected by rare diseases and who do not have a specific Association for its pathology concrete; After thinking on this issue we consider the need to provide associative coverage to anyone who suffers from a rare disease, without limits, without asking and without knowing where it comes, we are born with clear objective to facilitate A LAS families affected A framework partnership for work in benefit of if same, this is the concept: that people can develop their work under the aegis of the Associationdefend their rights and build its future.

ACMEIM is the cornerstone of this partnership, has been the inspiration for people who have decided to meet and pick up independently to improve their lives, but we are not the only people in the Association of metabolic de Andalucía, CDG, the Foundation small lungs or ASIMAGA, they have decided to personally support this new adventure, our first step are these days 22 and 23 days. In them, we have a large number of professionals, doctors, politicians who have not hesitated to show us your support to our appeal.

We believe that these days are the germ of a new seed, a project that aims high with a new concept in understanding associationism. We want to be innovative and lead the way in this new concept, so we invited practically all national associations that represent these pathologies, we have done more transparent as that can be done: inviting them to be an active part of these conferences to give voice in equal conditions to all and free to represent their collectiveunpretentious, we are not asking any association or Federation affiliation or commitment that goes beyond the collaborative between entities and we want to enjoy these days with the freedom to endorse them, but yes we ask that they not refuse the possibility of being represented to those affected in their collective, so we ask people affectedassociations, professionals and all members of our society to support and enforce one of our slogan: join rare diseases.

D. Jesus Ignacio Meco, President of the Spanish Association of rare disorders (AER-ACMEIM).