Page 87 - MemoriaCIBER-2017ENG

Scienti c Programmes
Genetic Medicine
Coordinator: Ángel Carracedo Álvarez
In 2017, the Genetic Medicine Programme has continued to lead the implementation of new genomic medicine and other omic applications in diagnostic practice in hospitals This same year there has been cooperation in such relevant studies as the ones performed by Ángel Carracedo’s group, which has iden- ti ed 65 new loci of risks in breast cancer and was published in the journal Nature, or the work published in Genome Biol in which Guillermo Antiñolo and Joaquín Dopazo’s Groups are cooperating, on studies of the whole exome for identi cation of new genes involved in Hirschsprung’s disease
Three pieces of research of the CIBERER unit led by Santiago Rodríguez de Córdoba’s group have identi- ed new factors for genetic predisposition for the atypical haemolytic uremic syndrome (aHUS) and pos- sible environmental factors unleashing this All three articles have been published at almost the same time, two of these in Kidney International and the other in Journal of the American Society of Nephrology
2017 stood out for being a highly proli c year in therapeutic research in this research programme Some of the milestones attained, such as the designation of metformin as an orphan drug for treatment of Lafora disease vouch for this The studies have been made by Pascual Sanz and José Serratosa’s group The designation of propranolol has also been attained as new orphan drug for treatment of Von Hippel-Lindau’s disease This designation has been achieved thanks to the preclinical research done by Luisa Botella’s group with the cooperation of the Alianza Española de Familias de Von Hippel-Lindau
Relevant articles for treatment of rare diseases have also been published, such as the work done by Erwin Knetch in cooperation with Aurora Pujol on the e ect of tauroursodeoxycholic acid (TUDCA) in X-linked adrenoleukodystrophy published in Acta Neuropathol and the collaborative work done on the prevention of hereditary angioedema with the C1 inhibitor of Maite Caballero, which has been published in the New England Journal of Medicine
We should lastly stress that two new group leaders have been appointed over the year: Luisa María Botel- la has been appointed CIBERER Group leader at the Centro de Investigaciones Biológicas (CSIC) replacing Carmelo Bernabéu, and Maite Caballero at the Hospital La Paz to replace Margarita López Trascasa
Inherited Metabolic Medicine
Coordinator: Rafael Artuch Iriberri
We should stress the organisation of internationally relevant symposia and congresses by the Inher- ited Metabolic Medicine area For example, in 2017 a CIBERER-Fundación Ramón Areces symposium was held at which the main international specialists in amino acid transport defects covered aspects concerning the mechanisms of pathologies associated with these defects and the therapies developed This was coordinated amongst others by the groups led by Virginia Nunes and Manuel Palacín Another important international encounter was on primary hyperoxaluria, at which the progress made in trans- lational research was presented This was coordinated by the CIBERER group led by Eduardo Salido Lastly, the Group for Minority Adult Diseases held a session at which it dealt with such matters as asso- ciations of patients with low prevalent diseases, the genetics of mitochondrial diseases (from childhood to adulthood), etc