Page 20 - CIBERER-2015-eng

Scientific Programmes
Mitochondrial and Neuromuscular Medicine
2015 was a year which involved several structur- al changes mainly stemming from the transfer of two new groups from the CIBER de Enferme- dades Neurodegenerativas in 2014. These were the groups led by Dr Isabel Illa and Dr Vilchez re- spectively, which joined the one which became known as the Mitochondrial and Neuromuscu- lar Medicine Programme; this was also due to a
Its 3rd Annual Scientific Meeting was held on 15th December at Madrid’s Hospital 12 de Octu- bre, where the work done was pooled, concentrat- ing on studies of mitochondrial dysfunction and physiopathogeny in models of disease, as well as on aspects of genetic-molecular identification (NGS), biomarkers and therapeutic approaches in mitochondrial and neuromuscular pathology. The
group in this programme leaving the CIBERER and another being included through the corre- sponding call of the Acción Estratégica de Salud (AES) of the Instituto de Salud Carlos III (ISCIII), led by Dr Josep Dalmau, whose real integration will become effective in 2016.
The 12 groups forming the Programme have obtained major scientific results, in dissemination and cooperation with patients’ associations, both individually and in cooperation with other CIBERER groups, either in the programme itself or in other programmes.
On the scientific level we should stress the pro- gress made in tackling diseases with mitochon- dria as the physiopathological target and affect- ing the individual’s bioenergy balance. This was done by studying genome-mitochondria commu- nication and the physiopathology and disease mechanisms in cell models and iPSC, the promo- tion of translational research into neuromuscular diseases and therapeutic research through the development of animal models to the preclinical stage, biomarkers, especially in neuromuscular pathologies. The most important publications and research projects of the groups are covered in the specific section for each of the groups in- cluded in this report.
As regards cooperation, we should stress that over 2015 the PdI participated in 4 projects in the ACCI Call: Cooperative and Complementary Intra- mural Actions (ACCI), 4 of these ending in 2015 and the other 4 being granted in the 2015 call. It is significant that three of these were coordinated by groups in the Programme. 9 of the 12 groups participated in an ACCI in 2015.
groups had also met beforehand in the frame- work of the Annual CIBERER meeting.
In 2015 the “Translational Research Experimental Medicine and Therapeutics on Charcot-Marie-Tooth Disease” project, financed by the ISCIII as part of the IRDiRC, concluded. This had started in 2012, with the participation of 12 reference research groups, 6 of these belonging to the CIBERER and specifically 4 from this programme.
As regards the transversal contribution to the CIBERER as a whole, we should stress the coor- dination by U713 led by Dr José Manuel Cuezva, from the PROTEOmAB Platform for phenotyping energy metabolism.
The groups in the programme also cooperated with patients’ associations, such as AEPMI (Aso- ciación de Enfermos de Patologías Mitocondri- ales) or ASEM (Federación Española de Enferme- dades Neuromusculares).
20 I Annual report 2015 I CIBERER