Page 83 - CIBERER-2015-eng

the scientific community and the general population memoration of the “Annual meeting on rare diseases all the activity related to the investigation and med- in adulthood”.
ical research on RD. For instance, through the com-
Most relevant scientific articles
Research Groups
catalán-garcía m, garraBou g, morén c, guitart-mamPel m, gonZáleZ-casacuBerta i, hernando a, gallego-es- curedo J, YuBero d, VillaroYa F, montero r, o-callaghan as, cardellach F, grau J. BACE-1, PS-1 and sAPPβ lev- els are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflam- matory myopathies. Mol Med. 2015 Nov 3. doi: 10.2119/ molmed.2015.00168.
cámara Y, carreño-gago l, martín ma, melià mJ, BláZqueZ a, delmiro a, garraBou g, morén c, díaZ-manera J, gal- lardo e, Bornstein B, lóPeZ-gallardo e, hernándeZ-lain a, san millán B, cancho e, rodrígueZ-Vico Js, martí r, garcía-arumí e. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6.
Bosch m, FaJardo a, alcalá-Vida r, FernándeZ-Vidal a, teBar F, enrich c, cardellach F, PéreZ-naVarro e, Pol a. Hepatic Primary and Secondary Cholesterol Deposition
Highlights
In 2015 we have participated in: (i) PIBER-1 on genom- ics medicine with the rest of Pdl groups (Neurology ar- ticle); (ii) PIBER-2 on patophysiology of RD, specifically on mtDNA maintenance syndromes (together with U701,U717,U723,U727: Neurology article); (iii) PIBERs 3 and 4 on clinical and therapeutical investigation in the following categories: (a) muscular pathology (Mol Med and Rheumatol Int articles and collaboration with U713,U703); (b) mitochondrial toxicity (Pedatr Infect Dis, J AntimicrobChemother, AIDS articles); (c) neuro- degenerative and psychiatric diseases: X-fragile syn- drome (FIS with U726); familial Parkinson’s Disease (PD) (FIS with CIBERNED); common aetiopathology between PD, diabetes and Alzheimer’s disease (Inter- CIBER) and mitochondrial basis of schizophrenia; (d) obstetric disorders: intrauterine growth restriction (3 FIS projects with U719, 2 in 2015, Pedatr Infect Dis and AIDS articles); (e) myocardiopathies (Marató of TV3 2015, Cardiovasc Res article); (f) mitochondrial genetic disorders: gene therapy on MNGIE (ACCI with U701,U714) and TALENs for assisted reproduction
and Damage in Niemann-Pick Disease. Am J Pathol. 2016 Jan 16. pii: S0002-9440(15)00693-8. doi: 10.1016/j.aj- path.2015.12.002.
hernándeZ-rodrígueZ J, ruíZ-ortiZ e, tomé a, esPinosa g, gonZáleZ-roca e, mensa-Vilaró a, Prieto-gonZáleZ s, esPígol-Frigolé g, mensa J, cardellach F, grau Jm, cid mc, Yagüe J, aróstegui Ji, cerVera r. Clinical and genet- ic characterization of the autoinflammatory diseases diag- nosed in an adult reference center. Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Epub 2015 Aug 21. Review.
reddY P, ocamPo a, suZuKi K, luo J, Bacman sr, Williams sl, sugaWara a, oKamura d, tsuneKaWa Y, Wu J, lam d, xiong x, montserrat n, esteBan cr, liu gh, sancho-martíneZ i, manau d, ciVico s, cardellach F, del mar o’callaghan m, camPistol J, Zhao h, camPistol Jm, moraes ct, iZPisua Belmonte Jc. Selective elimination of mitochondrial mu- tations in the germline by genome editing. Cell. 2015 Apr 23;161(3):459-69. doi: 10.1016/j.cell.2015.03.051.
techniques (Cell article). Many projects are conduct- ed by CIBER and have allowed funding for human re- sources; the grants given by CELLEX foundation for infrastructure and staff have also been fundamental. Finally, we are working in the development of 2 orphan drugs for rare myopaties and Pompe disease.
Our participation in the PITER-1 is focused in: (a) diag- nosis of RD (with U701,U729,U717); (b) translation to the health system of diagnostic methods (with U717, U737, U701, U723, U727, U729); (c) clinical guidelines elaboration and (d) creation of the “Group for Medical Assistance of Adult Patients with Rare Diseases” and the “Attention unit for patients with inborn errors of metabolism”, formed by U703,U737,U722 and diverse services from the Hospital Clinic of Barcelona (intra- mural/CIBERER-2010, 2 medical residents in intern- ship and papers including AmJPathol, AutoimmunRev, ClinExpRheumatol, JAmGeriatrSoc articles). Regard- ing PITER-2 we have participated by handing biologic samples to CIBER-biobank and on PITER-3 in the men- toring and teaching of students.
Institution: Hospital Clínic de Barcelona · Villarroel, 170. 08036 Barcelona · Tel.: 93 227 54 00 - Ext 2907
E.mail: [email protected] · Web: http://www.idibaps.org/recerca/704/recerca-muscular-i-funcio-mitocondrial
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