Page 45 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
reddY P, ocamPo a, suZuKi K, luo J, Bacman sr, Wil- liams sl, sugaWara a, oKamura d, tsuneKaWa Y, Wu J, lam d, xiong x, montserrat n, esteBan cr, liu gh, san- cho-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 mutations in the germline by genome edit- ing. Cell. 2015 Apr 23;161(3):459-69.
ormaZaBal a, casado m, molero-luis m, montoYa J, rahman s, aYlett sB, hargreaVes i, heales s, artuch r. Can folic acid have a role in mitochondrial disorders?. Drug Discov Today. 2015 Nov;20(11):1349-54.
serrano m, de diego V, muchart J, cuadras d, FeliPe a, macaYa a, VeláZqueZ r, Poo mP, Fons c, o’callaghan mm, garcía-caZorla a, Boix c, roBles B, carratalá F, girós m, Briones P, gort l, artuch r, PéreZ-cerdá c, JaeKen J, PéreZ B, PéreZ-dueñas B. Phosphomannom- utase deficiency (PMM2-CDG): ataxia and cerebellar as- sessment. Orphanet J Rare Dis. 2015 Oct 26;10:138.
KölKer s, ValaYannoPoulos V, Burlina aB, sYKut-ce- gielsKa J, WiJBurg Fa, teles el, Zeman J, dionisi-Vici c, Barić i, Karall d, arnoux JB, aVram P, Baumgartner
Highlights
During 2015, our group has got different reasearcg grants, since all of our principal investigators are developing research projects funded by public agen- cies, such a the ISCIII. Noteworthy, 2 new young principal researchers have got, for the first time, funds from FIS, for developing their projects in the area of rare diseases (Drs. Serrano and Ormazabal). Namely, one project is about congenital disorders of glycosylation and the other is about new biomarkers for neurometabolic diseases.
Regarding the research results of the group, we have reach a similar level of scientific publications when compared with previous years, with a remark- able traslational and collaborative component (at national and international levels). For example, Dr. García-Cazorla has leaded an international colab- orative article about the results from an European
mr, Blasco-alonso J, BoY sP, rasmussen mB, Burgard P, chaBrol B, chaKraPani a, chaPman K, cortès i salad- elaFont e, couce ml, de meirleir l, doBBelaere d, Fur- lan F, gleich F, gonZáleZ mJ, gradoWsKa W, grüneWald s, honZiK t, hörster F, ioannou h, Jalan a, häBerle J, haege g, langereis e, de lonlaY P, martinelli d, matsu- moto s, mühlhausen c, murPhY e, de BaulnY ho, orteZ c, Pedrón cc, Pintos-morell g, Pena-quintana l, rama- dža dP, rodrigues e, scholl-Bürgi s, soKal e, summar ml, thomPson n, Vara r, Pinera iV, Walter Jh, Williams m, lund am, garcía caZorla a. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015 Nov;38(6):1059-74.
asencio c, rodrígueZ-hernándeZ ma, Briones P, mon- toYa J, cortés a, emPerador s, gaVilán a, ruiZ-Pesini e, YuBero d, montero r, Pineda m, o’callaghan mm, al- cáZar-FaBra m, salViati l, artuch r, naVas P. Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content. Eur J Hum Genet. 2016 Mar;24(3):367-72.
registry for genetic-metabolic diseases. As a result, practical recommendations and guidelines have been developed.
As regards our relationships with patients and fam- ilies associations, we have paticipated in the first meeting of a new Spanish association for patients with inborn errors of neurotransmission This meet- ing hold in valencia during 2015 was registered in the CIBERER web page.
Lastly, our Hospital is experiencing a deep transfor- mation, especially in the area of rare diseases. A new pediatric Institute for rare diseases has been launched, with the incorporation of Dr. Francesc Pa- lau, who will be the person in charge of leading this ambiciuos project.
Institution: Fund. para la Investigación y Docencia Sant Joan de Deu
Contact: Hospital Sant Joan de Deu · C/ Santa Rosa, 39-57.08950 Esplugues de Llobregat · Tel.: 93 280 61 69 E.mail: [email protected] · Web: http://www.hsjdbcn.org
CIBERER I Annual report 2015 I 45