4th ALPE Awards

The 4th edition of the ALPE Awards have the following winners:

RESEARCH AWARD

Ex aequo to the Skeletal Dysplasias Research Group of the Institute of Medical and Molecular Genetics (INGEMM) and the Multidisciplinary Unit of Skeletal Dysplasias (UMDE) of the La Paz University Hospital; and the Human Rights Institute Bartolomé de las Casas (IDHBC) of the Carlos III University INGEMM and UMDE Since 2004 the research of the IGEMM and UMDE has focused on the identification and characterization of new mutations, genes and regions of the genome involved in skeletal dysplasias, many of which occur with short stature and to understand why they cause the disease. These investigations have allowed them to study more than a thousand individuals with skeletal dysplasias and identify the underlying genetic cause in 53% of the cases analyzed, including cases with very rare dysplasias, described above in no more than 1 or 2 cases in the world. They have improved the success rate of molecular diagnostics, increasing it up to 53% in these pathologies, which has contributed to improve the monitoring of patients and the possibility of getting treatment in some cases, seek new treatments and promote genetic counseling to patients. families The group has published more than 40 articles on the genetics and molecular biology of skeletal dysplasias in international journals. His growing career and his involvement with patient organizations validate this well-deserved prize that the ALPE Foundation is proud to deliver. IDHBC although as began to function as a university center in 1990, in 2003 the IDHBC began to develop a priority work on Equality, Non-Discrimination and Disability that has made it a benchmark both nationally and internationally. The institute has carried out research, teaching, editorial and other activities in different thematic lines connected with disability and human rights and has given rise to more than 100 publications (monographs, collective books, book chapters, articles, and papers) relating specifically to the rights of people with disabilities. An enormous bibliography, if they are added to these publications, articles in magazines, studies, reports, guides, and projects. In addition, the IDHBC offers postgraduate training and carries out an intense informative work with the organization of events and participation as speakers and lecturers of its members.

INSTITUTIONAL AWARD

To the Carrefour Solidarity Foundation for the project Comprehensive therapy classroom for children with achondroplasia and other bone dysplasias. Created in 2001, the Carrefour Solidarity Foundation especially supports projects in favor of children with disabilities or at risk of social exclusion, intervenes in emergency situations and promotes the labor integration of people with disabilities or disadvantaged people. After the positive evaluation of the project presented by the ALPE Foundation in 2015 "Classroom of comprehensive therapy for children with achondroplasia and other bone dysplasias" and a visit to the premises of the Foundation, he was selected as a finalist and was elected by more than 30,000 votes of Carrefour employees in Spain. The multisensory therapy classroom offers children the opportunity to be exposed to controlled stimuli with a double objective: to acquire a series of learning through discovery and to develop the maximum potential of their school, social and intellectual abilities. The integral therapy classroom is just one of the inclusive projects funded by the Carrefour Foundation, whose merit has been recognized with numerous awards.

PERSONAL AWARD

To Helena Rohner and Lucas Ayala for the documentary "Lucas Adventure". Helena Rohner is a renowned jewelry designer and when her firstborn son Lucas was born she discovered that he had achondroplasia. Years later, when Lucas began the process of limb lengthening, the only effective therapy today to gain height, he decided to document it. Then she searched for funds, involving friends, Helena managed to produce and then disseminate a 24-minute documentary that allowed many families, affected and people unrelated to achondroplasia, to see a process of limb lengthening up close, even though the documentary does not have a journalistic aesthetic, so to speak, but artistic and sensitive. A visual and emotional approach to achondroplasia, to a child-hero, to a family. Helena Rohner has widely disseminated achondroplasia in the media, thanks to Lucas adventure and its mediatic nature. Her fame as a designer, her relationships in creative and journalistic environments, and her willingness to make known, away from stereotypes, under a new and positive light, achondroplasia, have led to numerous appearances in the national press, with extensive reports that have reached a very wide and varied public.

Watch Lucas Adventure full video here.

 

AWARDS GALA


The award ceremony will take place during a gala dinner to be held on 12th June 2018, Tuesday, at 8pm in Fundaland, C / Monasterio de las Huelgas 15, 28049, Madrid, Spain.

It will have the presence of renowned personalities in the above-mentioned attempt to offer society an image of people with achondroplasia and other dysplasias more in line with our times and their condition of basic normality in all areas, away from stereotypes. Everyone is welcome.

For registration in the Gala: This email address is being protected from spambots. You need JavaScript enabled to view it. or +34 985176153/+34 64782173