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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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