Page 82 - MemoriaCIBER2019-ENG

82
CIBER Annual report 2019
Programmes
Translational Genomic Medicine Programme
Coordinator: Ángel Carracedo Álvarez
In 2019, the Translational Genomic Medicine Programme was created with one of the main objectives being the im- plementation of the new genomic medicine and other omics applications to the diagnostic practice of hospitals. This group emerged from the former Genetic Medicine programme and has been reduced to only 5 of the original 10 groups. Among the main milestones in 2019, we highlight several relevant studies such as the one by Joaquín Dopazo, who has led a study published in Cancer Research on genomic big data in which 9,428 samples from 25 types of cancer have been analyzed to reveal metabolic modules whose individual or coordinated activity predicts the type of cancer and the evolution of the disease, also opening doors to new therapeutic opportunities. This same CIBERER group, to- gether with the group led by Marcela del Río, has identified a common genetic signature in three rare skin diseases or genodermatosis (recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum).
Lastly, we highlight the Annual Scientific Meeting of the programme organised on March 13 in El Escorial, Madrid in which the coordinator Ángel Carracedo commented on the lines of work of this new area and the 1 million genomes initiative.
Mitochondrial
and Inherited Metabolic Medicine Programme
Coordinator: Rafael Artuch Iriberri
This programme works to improve knowledge of inherited metabolic diseases, and has achieved several relevant
findings, such as:
• Identification of 5 molecules with the ability to reverse coenzyme Q deficiency thanks to a high-throu- ghput screening method in a yeast model. DOI.org/10.1177/2472555219877185.
• Participation of CIBERER groups in the first liver transplant for the treatment of mitochondrial neurogas- trointestinal encephalopathy (MNGIE) in Spain, carried out at the Vall d’Hebron Hospital in Barcelona.