The Research Group on Molecular, Cellular and Genomic Biomedicine (BMCG) was accredited in 2010 and it is composed of a total of 21 researchers, ten of them belonging to the joint Unit for Rare Diseases CIPF_IIS La Fe. It is led by Dr. José M. Millán. The group is multidisciplinary and is made up of ophthalmologists, ENT doctors, geneticists, molecular biologists and biochemists, and participates as a member in the CIBER of Rare Diseases. Its objective is to deepen the knowledge of the physiology, genetics and clinics of diseases that fundamentally affect the organs of vision and hearing but also neuromuscular and neurodegenerative organs, seeking the immediate application of the results of this research to the clinical practice for the benefit of the patient.

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Our scientific contributions

USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans.
Schwaller F, Bégay V, García-García G, Taberner FJ, Moshourab R, McDonald B, Docter T, Kühnemund J, Ojeda-Alonso J, Paricio-Montesinos R, Lechner SG, Poulet JFA, Millan JM and Lewin GR
NATURE NEUROSCIENCE, 2020 Dec,  DOI:  10.1038/s41593-020-00751-y,  Vol. 24,  pag. 74-81

Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans.
Gómez-Escribano AP, Bono-Yagüe J, García-Gimeno MA, Sequedo MD, Hervás D, Fornés-Ferrer V, Torres-Sánchez SC, Millán JM, Sanz P and Vázquez-Manrique RP
PHARMACOLOGICAL RESEARCH, 2020 Nov,  DOI:  10.1016/j.phrs.2020.105105,  Vol. 161,  pag. 105105-105105

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
A. RODRIGUEZ-MUNOZ, E. ALLER, T. JAIJO, E. GONZALEZ-GARCIA, A. CABRERA-PESET, R. GALLEGO-PINAZO, P. UDAONDO, D. SALOM, G. GARCIA-GARCIA and J. MILLAN
JOURNAL OF MOLECULAR DIAGNOSTICS, 2020 Apr,  DOI:  10.1016/j.jmoldx.2020.01.003,  Vol. 22,  pag. 532-543

Reactive Species in Huntington Disease: Are They Really the Radicals You Want to Catch?
Bono-Yagüe J, Gómez-Escribano AP, Millán JM and Vázquez-Manrique RP
Antioxidants, 2020 Jul,  DOI:  10.3390/antiox9070577,  Vol. 9,  pag. 

Expanding the Genetic Landscape of Usher-Like Phenotypes.
Fuster-García C, García-García G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E and Millán JM
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019 Nov,  DOI:  10.1167/iovs.19-27470,  Vol. 60,  pag. 4701-4710

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