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Búsqueda de colaboraciones científicas en el campo de enfermedades raras

Resumen

Tipo:
Oferta Tecnológica
Referencia:
TOIT20170314002
Publicado:
24/03/2017
Caducidad:
24/03/2018
Resumen:
Una asociación italiana especializada en investigación de una enfermedad genética rara, el síndrome ring14, ha llevado a cabo estudios de investigación para profundizar en el conocimiento de esta enfermedad y mejorar la calidad de vida de los pacientes afectados y de sus familias. La asociación gestiona una base de datos de información clínica que ha obtenido de las familias. Esta base de datos es muy útil para determinar los síntomas relacionados con la enfermedad rara e impulsar y desarrollar una investigación traslacional. La asociación está interesada en ampliar su red de socios en el extranjero y busca colaboración científica o la posibilidad de participar en proyectos financiados por la UE.

Details

Tittle:
Looking for scientific collaborations in the field of rare diseases
Summary:
An Italian association devoted to a rare genetic disease called ring14 syndrome has been carrying out targeted research studies in order to deepen knowledge on the disorder and improve the life quality of affected patients and their families.
The association is interested in enlarge the network of partnerships abroad by means of scientific collaborations or research projects funded by EU.
Description:
The Italian association consistently sustained, supported and sponsored scientific projects and ambitious basic-science projects, such as the creation of ring14 models and the gene expression profiling of immortalized ring14 cells and has been funding as well phenotypic and language development studies. In order to better promote research, the association has created an international Scientific Advisory Board (SAB) and appointed a scientific coordinator. The SAB together with the scientific coordination office will be responsible for managing world scientists in order to develop new treatments and cures for the disease and for defining new scientific strategies for future developments.
The association sponsors basic and translational research through its strong commitment to projects aimed at advancing scientific knowledge on chromosome 14 disorders and sets up scientific activities dedicated to strategic planning of research initiatives and management of the project selection process.
The association also manages a database of clinical information collected from families. This database is extremely useful to determine which symptoms might be related to these syndromes and to stimulate and develop translational research. The database can be freely accessed upon receiving a letter of intent/scientific project and is listed in several international framework programs. The association also organizes international workshops involving experts in the field of cytogenetics, molecular genetics, clinical applications and epilepsy with the aim of generating ideas and innovative approaches for the study of these diseases, and meetings/holiday camps for families and patients.
The association is interested in any scientific collaboration with research centres in the field of rare-genetic diseases to disseminate scientific results and knowledge exchange between stakeholders, to develop knowledge management strategies and to pave the way to the development of new therapies for a better treatment outcome in rare disease patients. The collaboration either could be carried out by mean of a research contract or by mean of EU funded projects.
Advantages and Innovations:
The association has been the only reference point for hundreds of families around the world. It has been promoting and funding biomedical research for rare diseases and has gained a unique database of scientific data related to ring14 syndrome. The association has participated in different EU projects within the FP7.
Stage of Development:
Already on the market
IPs:
Other

Partner sought

Type and Role of Partner Sought:
Partner sought: Research entities, both public and private, focused on rare-genetic diseases.

Role of the partner sought: dissemination of scientific results and knowledge exchange between stakeholders, development of knowledge management strategies and development of new therapies for a better treatment outcome in rare disease patients.

Proposals under Horizon 2020 calls on the specific topic of rare disease are also welcome.

Client

Type and Size of Client:
Other
Already Engaged in Trans-National Cooperation:
Si
Languages Spoken:
English
French
Italian
Spanish

Keywords

Technology Keywords:
06001012 Investigaciones médicas
06001009 Terapia genética - ADN