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The U728 has focused his research in the last 20 years in different genetically Highlights
based diseases such as neurofibromatosis , spinal muscular atrophy and sen-

sorineural disorders like hereditary deafness and anterior segment of the eye.
Hereditary hearing loss is characterized by high genetic heterogeneity and is one

of the most active research lines have been developed in recent years with nume-

rous achievements in the field of translational research, innovation and transfer
market. In 2013 these lines of research are being funded research projects for

7 (FIS , Fundacin Ramn Areces , the International Cooperation Project , CNPq

- Brazil ) that have led to 7 publications in first-quartile international journals
and 19 communications to congress, 9 of them at international conferences. In
á
the field of knowledge transfer, we have signed four licenses for commercial use
13
of diagnostic tools based on new generation technologies ( aCGH and NGS ) for 20
hearing loss that have been designed and validated in our laboratory. In turn we T
OR
have published a clinical guideline “ EMQN Best Practice guidelines for diagnostic P
testing of non - Causing mutations syndromic hearing impairment at the DFNB1 RE
L
locus “ field diagnosis of hereditary hearing impairment .
A
NU
Our laboratory in 2013 has been co-organizer of the XXVII Congress of the Natio- N
A
nal Association of Human Genetics held in Madrid and member of the organizing R /
committee of the 50th Workshop on Inner Ear Biology Alcal de Henares.
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