Page 20 - CIBERER2016-ENG

Genetic Medicine
Coordinator: Ángel Carracedo
The Genetic Medicine Programme continues to lead the process for implementation of NGS and other
omic applications for diagnostic practice at hospitals.
The most strategic action in this respect was the cooperative CIBERER project, led by Dr. Dopazo’s group (U715), to develop a pilot system for storage and management of genomic data (exomes or large panels). Seven hospitals from four of Spain’s regional “Autonomous Communities” took part in the project: La Paz, Fundación Jiménez Díaz, Ramón y Cajal, CBM (Madrid), Virgen del Rocío (Seville), Hospital del Mar (Barcelona), HU La Fe (Valencia). This and other initiatives continue to enable us to discover new genes involved in RD and as examples of this there are such discoveries as:
• In the field of inherited thrombophilia, we should stress the identification of the molecular basis of a very relevant proportion of cases with antithrombin deficiency without mutations in the encoding gene (SERPINC1) by Dr. Vicente’s Group (U765).
• Apart from this, the first catalogue of the healthy Spanish population’s genetic variation was published. This work was jointly performed by Dr. Dopazo’s group (U715) and that of Dr. Antiñolo (U702). Dopazo et al, Mol Biol Evol. 2016 Jan 13.
A lot of work was done this year in the lines of research into therapies.
Dr. Sanz’s group (U742) along with that of Dr. Serratosa (U744) have treated malin-deficient mice models of Lafora disease in order to find out whether they improved their neurological symptoms. The results indicate the possible utility of these compounds to slow down the development of the disease (Berthier et al., 2016, Mol. Neurobiol, 53: 1296-1309). As a result of these findings the designation of orphan drug was obtained from the European Medicines Agency (EMA) for metformin in treatment of Lafora disease.
In 2016, the EMA also accepted the denomination of temsirolimus as orphan drug for treatment of X-adrenoleukodystrophy, based on a publication and a European patent
(EP14382353.2) of the CIBERER. A cooperative work between Dr. Knetch’s group U721 and Dr. Pujol’s group (U759).
Lastly a dossier has been sent to the EMA for designation of propranolol as an orphan drug for Von Hippel- Lindau, which was approved in January 2017. A protocol for a clinical trial for HHT was also drawn up, and presented to the AEMPs for a clinical trial at the Ramón y Cajal hospital with an antiangiogenic component.
As far as training is concerned we should stress the organisation of the second edition of the course on “Complement and renal pathology” at the Hospital Universitario La Paz, coordinated by CIBERER unit U754 (Dr. Margarita López), which was financed by the CIBERER and at which a total number of 140 professionals from the national healthcare field took part.
20