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Significant Activities
Projects
NATIONAL
Financing Agency: Instituto de Salud Carlos III
Study of the pathways involved in autism spectrum disorders: Functional consequences of genetic and epigenetic variants.
Progress made in McArdle’s disease: New therapeutic approaches and development of a new non- invasive diagnosis in patients.
Identification and characterisation of the molecular mechanisms involved in Sexual Differentiation Alterations (SDA) by applying massive sequencing techniques and aCGH.
Muscular atrophy in ageing and inherited neurometabolical pathologies: an approach to diagnosis and intervention. Part 2: Approaches to therapies based on the use of iPSCs.
The Landscape of Axonal Biology and Membranes Associated with Mitochondria in Neurogenetic Disease.
COHORTE project: Characterisation and contribution to genetic diagnosis in a cohort of patients with intellectual disability, autism and/or epilepsy.
Financing Agency: Ministry of the Economy and Competitiveness
Regulation of mitochondrial DNA in human pathology: importance of homeostasis of the dNTPs pool.
Platform for support for internationalisation of the CIBER_BBN/ER/RES.
Others
Fundación Todos Somos Raros.
PIK3CA Overgrowth Syndromes: Diagnosis, Phenotype and Clinical Guidelines. INTERNATIONAL PROJECTS EU
European network and registry for homocystinurias and methylation defects (E-HOD).
Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases (RD-ACTION).
Novel therapeutic perspectives for mitochondrial DNA depletion and deletion syndrome due to defective dNTP homeostasis: The specific case of TK2 deficiency.
Project financed by AFM- TELETHON private foundation.
Transfer
One of the CIBER’s main aims is to transfer the knowledge generated by its researchers, so that its research results can be developed in protocols, services and products for improving clinical practice and people’s quality of life. To this end the CIBER Technology Transfer department acts as a liaison between its researchers and companies, private institutions, public research centres and other innovation agents in order to make cooperation with them more effective and ensure that the results of research are actually implemented. Work is done in several approaches in order to achieve this aim:
• Continuous contact with our researchers to monitor their results and train them in managing innovation.
A Technology Transfer Session was arranged for this purpose on 29 and 30 November 2016 as
part of the 30th anniversary of ISCIII. Experts in different areas attending this event shared their knowledge on industrial property, company creation, licencing processes, venture capital, grants for internationalisation, etc..
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