- Early and precision diagnosis by applying technological advances in genetics and imaging of the nervous system.
- Clinical and preclinical development of advanced therapies and facilitation of access to those already available.
- Deep brain stimulation program for symptomatic treatment of refractory movement disorders.
- Technological innovation and digital transformation of rare diseases.
eCORE
- Woman & Child Health & Rare Diseases
Team
Group Leader
David Gómez Andrés, Belén Pérez Dueñas
Principal Investigator (PI)
Anna Marcé Grau
Researchers
Maria Victoria González Martínez, Ignacio Delgado Álvarez, Lucy Dougherty de Miguel, Edgard Verdura Peralta
PhD Students
Ana Isabel Cazurro Gutiérrez
Nursing and Technical Staff
Martha Carolina Loredo Silos
Publications
Correa-Vela M, Carvalho J, Ferrero-Turrion J, Cazurro-Gutiérrez A, Vanegas M, Gonzalez V, Alvárez R, Marcé-Grau A, Moreno A, Macaya-Ruiz A, Pérez-Dueñas B
Early recognition of SGCE-myoclonus-dystonia in children
Dev Med Child Neurol. 2023 Feb;65(2):207-214
DOI: 10.1111/dmcn.15298
IF: 5.449
Centen LM, Pinter D, van Egmond ME, Graessner H, Kovacs N, Koy A, Perez-Dueñas B, Reinhard C, Tijssen MAJ, Boesch S
Dystonia management across Europe within ERN-RND: current state and future challenges
J Neurol. 2023 Feb;270(2):797-809
DOI: 10.1007/s00415-022-11412-4
IF: 6.0
Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
J Med Genet. 2023 Jul;60(7):685-691
DOI: 10.1136/jmg-2022-108929
IF: 4.0
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Genet Med. 2023 Apr;25(4):100018
DOI: 10.1016/j.gim.2023.100018
IF: 8.8
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant
Genes (Basel). 2023 Mar 29;14(4):822
DOI: 10.3390/genes14040822
IF: 3.5
Projects
FORTALECE
Principal Investigator: Belen Perez Dueñas
Agency: Instituto de Salud Carlos III
Funding: 416,665 €
Period: 01/01/2024- 31/12/2027
Diagnosis and management of myoclonus dystonia in Europe
Principal Investigator: Belen Perez Dueñas
Agency: European Reference Network for Rare Neurological Diseases
Funding: 11,543 €
Period: 01/09/2023- 01/09/2024
