- Therapies in neuromuscular disorders: We are involved in several pivotal clinical trials for novel therapies targeting spinal muscular atrophy and Duchenne muscular dystrophy. We also lead natural history studies for LAMA2-related dystrophies and collaborate in basic research for improved strategies.
- Imaging in neuromuscular disorders: We employe imaging techniques and artificial intelligence to characterize muscle involvement and monitor disease progression in neuromuscular disorders.
- Precision Diagnosis: We reanalyzed data from over 150 families with neurogenetic disorders and used optical genome mapping in undiagnosed cases.
- Developmental and epileptic encephalopathy (DEE): Analysis of an early-onset DEE cohort cases to uncover novel genes and expanded phenotypes and understand its molecular basis.
eCORE
- Woman & Child Health & Rare Diseases
Team
Group Leader
Alfons Macaya Ruíz
Principal Investigator (PI)
Francina Munell Casadesús, Belén Pérez Dueñas, Mireia del Toro Riera, David Gómez Andrés
Researchers
Edgard Verdura Peralta, Anna Marcé Grau, Miquel Raspall Chaure, Ana Felipe Rucián, Júlia Sala Coromina, Laura Costa Comellas, Lucy Dougherty de Miguel, Angel Somalo Ipiens
PhD Students
Ana Laura Cazurro Gutiérrez, Ainara Salazar Villacorta, Julia Ferrero Turrion
Nursing and Technical Staff
Gabriela Urcuyo Delgado, Ana Gabriela Lungo Peccorini
Selected Publications
Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera De Benito D, Nascimiento Osorio A, Estévez Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B, Savarese M.
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Ann Clin Transl Neurol. 2024 Oct;11(10):2745-2755.
DOI: 10.1002/acn3.52189
IF: 4.4
Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Mov Disord. 2024 Jun;39(6):983-995.
DOI: 10.1002/mds.29754.
IF: 7.4
Ribeiro-Constante J, Tristán-Noguero A, Martínez Calvo FF, Ibañez-Mico S, Peña Segura JL, Ramos-Fernández JM, Moyano Chicano MDC, Camino León R, Soto Insuga V, González Alguacil E, Valera Dávila C, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Martin-Tamayo Blázquez MDP, Paredes-Carmona F, Marti-Carrera I, Hernández-Fabián A, Tomas Davi M, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan M, Iglesias Santa Polonia FF, Cazorla MR, Ferrando Lucas MT, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Cueto-González AM, Valera Párraga F, Campistol Plana J, Serrano M, Alonso X, Del Castillo-Berges D, Schwartz-Palleja M, Illescas S, Ramírez Camacho A, Sans Capdevila O, García-Cazorla A, Bayés À, Alonso-Colmenero I.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Front Cell Dev Biol. 2024 Mar 5;12:1321282
DOI: 10.3389/fcell.2024.1321282.
IF: 4.6
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A,
Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E,
Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A,
Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I, Mariotti C; ERN-RND Working Group for Management of Transition
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
Neurol Sci. 2024 Mar;45(3):1007-1016.
DOI: 10.1007/s10072-023-07101-3
IF: 2.7
Ortiz de Zarate, Z., Fonseca, E., Abraira, L., Santamarina, E., Campos-Fernández, D., Quintana, M., Sánchez, J., Goméz-Andrés, D., Sala, J., Raspall, M., Felipe-Rucián, A., Del Toro, M., Macaya, A., & Toledo, M. (2024). https://doi.org/10.1016/j.ejpn.2024.01.004
EPITRANS. Quality assessment of the epilepsy transition process.
Eur J Paediatr Neurol, 2024: 48, 121–128.
DOI: 10.1016/j.ejpn.2024.01.004
IF: 2.7
Selected Projects
Development of a new gene therapy strategy and preparation of a patient cohort for clinical trials in merosin-deficient congenital muscular dystrophy
Principal Investigator: Francina Munell - Jordi Barquinero
Agency: ISC III
Funding: 139,150 €
Period: 2020-2024
Congenital muscular dystrophy type 1A: inhibition of fibrosis and correction by gene editing
Principal Investigator: Francina Munell - Jordi Barquinero
Agency: ISCIII
Funding: 117,370 €
Period: 2023-2025
Longitudinal validation of the mSPRS, FARS-ADL (PROM), selected performance outcomes, comprehensive set of anchor measures
Principal Investigator: Rebecca Schüle (European coordinator) Alfons Macaya (Local Coordinator)
Agency: ERN-RND, ERDERA
Funding: 50,000 €
Period: 2024-2025
Treatabolome in autosomal dominant ataxias
Principal Investigator: D. Gómez Andrés
Agency: ERN-RND
Funding: 10,000 €
Period: 2024-2025
Pediatric Neurology Group (SGR)
Principal Investigator: Alfons Macaya
Agency: Agència Gestió Ajuts Universitaris i de Recerca
Selected Dissemination Activities
IVth PEDIATRIC NEUROLOGY COURSE: Prevention as a cornerstone in childhood neurological diseases
Place: Campus Universitary Vall d'Hebron
Date: 01/01/1970
Brief: A meeting bringing together neuroscience specialists adressed to training young neurologists and neuropediatricians and with a focus on treatable neurological disorders.
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