Page 177 - MemoriaER-Eng

www.ciberer.es

• M l (2013) Snowflake, albinism and conservation. Pigment Cell Melanoma
Most relevant ontoliu
Res. 2013 Nov;26(6):786-7. doi: 10.1111/pcmr.12133. Epub 2013 Jul 15.
scientific
• Montoliu l, GrønskoV k, Wei ah, Martínez-García M, Fernández a, arVeiler b, Morice-
articles
Picard F, riazuddin s, suzuki t, ahMed zM, rosenberG t, li W (2014) Increasing the
complexity: new genes and new types of albinism. Pigment Cell Melanoma Res.

2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17.

• Mártinez-García M, Montoliu l (2013) Albinism in Europe. J Dermatol. 2013
May;40(5):319-24.

During 2013, at the U756 of CIBERER, we have continue developing our research
Highlights
projects on albinismo, and with animal models (transgenic and mutante mice) of

albinismo, and neurosensorial related pathologies. On the other hand, and in col-
laboration with U711 (Angel Carracedo) we have continued our activities towards

the molecular diagnose of all known mutations associated with albinismo, com-
pleting the previous design with new mutations and genes that have appeared

recently in the literature. In addition, we have been solving all those cases with

patients where only one (or none) of the mutations involved has been character-
ized, through the use of new approaches involving next generation sequencing

strategies. We have also continue expanding our informative and teaching task,

through several updates a the web page on albinismo, for people with albinismo
and their relatives (http://www.cnb.csic.es/~albino).

Thanks to the 1st European Days of Albinism, held in Paris in October 2012, and

to the subsequent publication of various new genes associated with albinismo, we
have led the preparation, during 2013, of a large comprehensive review on this

subject, engaging as co-authors all researchers currently relevant in albinism, in

order to Estbaliz a new nomenclature for those new genes whose mutations are
also associated with albinismo (Montoliu et al. 2014, published online in 2013).

This nomenclature has been distributed and disseminated through ORPHANET,

HUGO, OMIM, MGI and several other databases.

During 2013 we have also continued our activities in collaboration with associa-
tions in support of people with albinism, both in Spain, ALBA (www.albinismo.es)

and in France, Genespoir (www.genespoir.org) through the participation of Lluis
Montoliu, as invited speaker in their respective annual meetings, held in Huelva

(April 2013) and Berck-sur-mer (France, March 2013).

Finally, during 2013 we have extended to PCT the previous patent generated on

the new animal model f achromatopsia, characterized in the laboratory.

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