Page 18 - CIBERER-2015-eng

Scientific Programmes
Genetic Medicine
The Genetic Medicine Programme continues to lead the initial implementation of Next Genera- tion Sequencing (NGS) and other OMICS appli- cations in diagnostic practice in hospitals. This enables us to go on discovering new genes in- volved in Rare Diseases (RD). Some examples of this are discoveries such as mutations in XPR1 which cause familial brain calcifications associ-
The programme also furthers physiopathological study for its therapeutic and diagnostic applica- tion in vascular and complement-mediated rare diseases. In this line of work we should stress the studies on complemented-mediated diseas- es done by Dr. Rodríguez de Córdoba’s groups (U738) describing a new relationship of hybrid gene CFHR1/CFH with the atypical haemolytic
ated with alterations in the export of phosphates, published by Dr Carracedo’s group (U711). (Lega- ti A, et al Nat Genet. 2015 Jun;47(6):579-81), and the works on epilepsies by Dr Serratosa’s group (U744) with mutations in KCNA2 and SLC13A5 which cause epileptic encephalopathy. (Brain. 2015 Nov;138(Pt 11): 3238-50 and Nat Genet. 2015 Apr;47(4):393-9).
Apart from this the first catalogue of genetic vari- ation of the healthy Spanish population has been published. This work was jointly produced by Dr Dopazo’s group (U715) and Dr Antiñolo’s unit (U702). Dopazo et al, Mol Biol Evol. 2016 Jan 13.
Another of the programme’s aims is to back pre- clinical research into rare epilepsies and related diseases, including Lafora’s disease. We should stress the works published by Dr Giménez’s group (U751) on the molecular aspects of gly- cine transporters 1 and 2 and their implication in hereditary Hyperekplexia. (Neuropharmacolo- gy. 2015 Feb;89:245-54 and J Biol Chem. 2015 Jan 23;290(4):2150-65), and the work done by Dr Sanz’s group (U742) on the structural mech- anisms of the laforin function implied in Lafora’s disease (Mol Cell. 2015 Jan 22;57(2):261-72). An- other accomplishment of Dr Sanz’s group was the application for patent ref: P201531786 for treatment and prevention of diseases or disor- ders regulated by AMPK, as is Lafora’s disease.
uremic syndrome (SHUa) (J Am Soc Nephrol. 2015 Jan; 26(1):209-19), and the work done in coopera- tion with Dr López Trascasa (U754) for risk haplo- types (Mol Immunol. 2015 Oct;67(2 Pt B):276-86).
Other findings of this kind include the work on Haemorrhagic Hereditary Telangiectasia (HHT) of Dr Bernabeu’s group (U707), which has postu- lated the involvement of endoglin in integrin-me- diated cell adhesion as the pathogenic mecha- nism in HHT (Cell Mol Life Sci. 2015 Dec 8) and has obtained the designation of bazedoxifene acetate as an orphan drug by the European Med- icines Agency.
Dr González Manchón (U734) has completed the phenotypic characterisation of a mouse model with podocalyxcin ablation (Podxl) in the vascular endothelium which represents an excellent tool for studying diseases occurring with an increase in vascular permeability, including systemic vas- culitis.
18 I Annual report 2015 I CIBERER