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Most relevant scientific articles
• Harms DW, quaDros rm, seruGGia D, oHtsuKa m, taKaHasHi G, montoliu l, GurumurtHy cb . Mouse Geno- me Editing Using the CRISPR/Cas System . Curr Protoc Hum Genet . 2014; 83:15 .7 .1-15 .7 .27 .
• seruGGia D, montoliu l. The new CRISPR-Cas system: RNA-guided genome engineering to efficiently produce any desired genetic alteration in animals . Transgenic Res . 2014; 23(5):707-16 .
• moreira pn, montoliu l. Intracytoplasmic sperm injection (ICSI)-mediated transgenesis in mice . Methods Mol Biol . 2014;1194:141-56 .
• montoliu l, Kelsh RN . Do you have to be albino to be albino? Pigment Cell Melanoma Res . 2014; 27(3):325-6 .
• montoliu l, GrØnsKoV K, Wei aH, martínez-García m, FernánDez a, arVeiler b, morice-picarD F, riazuDDin s, suzuKi t, aHmeD zm, rosenberG t, li W . Increasing the complexity: new genes and new types of albinism . Pigment Cell Melanoma Res . 2014;27(1):11-8 .
Highlights
CIBERER Unit U756 focuses its activities in research on albinism, a rare genetic condition affecting 1:17000 in Europe and North-America . At least 18 heterogeneous types of albinism group in this rare disease, globally characterized by a fundamental visual deficit, associated with mutations present in, at least, 18 loci . People with albinism can manifest alterations in pigmentation, affecting skin, hair and eyes (oculocutaneous albinism, OCA) o only the eyes (ocular albinism) . These symptoms can be presented in a syndromic form (Hemansky-Pudlak, Chediak-Higashi) . In collaboration with the Spanish association in support of people with albinism (ALBA, www .albinismo .es) and with unit U711 Angel Carracedo (USC) we are developing an initiative called albinochip, aiming to genetically diagnose, universally, all known mutations associated with albinism . We also offer support and information to everyone interested through a dedicated web page (www .cnb .csic .es/~albino/) . In the laboratory, we have generated various animal models of albinism, essentially mice, whose genome has been genetically altered to reproduce the visual and pigment deficits observed in humans . Using these animal models for different types of albinism, mainly OCA1, we have explored the functional relevance of non-coding genomic sequences, using the innovative CRISPR-Cas9 technology, and described phenotypes that are similar to those observed in mutations usually located within the coding areas . We have also reported new animal models of additional visual alterations, such as achromatopsia, and started to explore potential treatments for certain types of albinism, analyzing the usefulness of some drugs whose activity has been recently proposed to recover, at least partially, some deficits associated with albinism . Finally, through our participation in International Mouse Functional Genomic consortia, we offer from our laboratory the possibility to cryopreserve, archive, disseminate and import many mouse mutant lines of interest in biomedicine, through the platform EMMA/INFRAFRONTIER (http://www .infrafrontier .eu) .
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas Contact: Centro Nacional de Biotecnología (CNB-CSIC) · C/ Darwin 3, Campus de Cantoblanco . 28049 Madrid · Phone: (+34) 91 585 48 44 · E .mail: montoliu@cnb .csic .es Web: http://www .cnb .csic .es/~montoliu/
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