Genetics and sensorineural pathophysiology

2023 Activity indicators

7 competitive national public projects: ISCIII, CAM
1 private led project
1 HR competitive contract
9 publications
IF: 60.09
Q1 publications: 6 (67%)
D1 publicacions: 2 (22%)
1 thesis
National institution scientific project evaluators: 5 researchers
Members of editorial committees: 2 PI
Several panels developed at IRYCIS for genetic diagnosis in use at HURYC
Gene therapy in hypoacusis study in progress (Decibel Therapeutics)
1 document with recommendations (PMID: 37218840)
10 actions with an impact on society: conferences, courses and press releases
1 visitor hosted and 3 months stay:
- FISEVI

Milestones

Clinical trial based on AAV for hereditary hypoacusis due to mutations in OTOF.
SERMAS referent for the organisation of the genetics portfolio in the Ministry of Health.
Characterisation of ancestral Cas from 2600 million years ago for genome editing. Fañanas S, Morín M, Fernández S, Ojeda I, Dessy M, Giurgiu M, Bueren JA, Moreno MA, Segovia JC, Quintana O. Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides. Front. Genome Edit. 2023;5: 1104666 - 1104666. DOI:10.3389/fgeed.2023.1104666. PMID: 37188156.
Identification of Cingulin as a novel autosomal dominantly inherited hearing impairment gene. Zhu GJ, Huang Y, Zhang L, Yan K, Qiu C, He Y, Liu Q, Zhu C, Morín M, Moreno MÁ, Zhu MS, Cao X, Zhou H, Qian X, Xu Z, Chen J, Gao X, Wan G. Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse. EMBO Mol Med. 2023;DOI:10.15252/emmm.202317611. PMID: 37691516.
Identification of PPCDCDC, as a new gene associated with a congenital defect of metabolism due to alteration in CoA biosynthesis. Bravo I, Morin M, Arribas L, Álvarez M, Pedrón C, Soletto L, Santolaria C, Ramón S, Ugarte M, Rodríguez P, Ariño J, Moreno MÁ, Pérez B. Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy. J. Inherit. Metab. Dis. 2023;46(2): 261 - 272. DOI:10.1002/jimd.12584. PMID: 36564894.