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Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases

Many rare diseases of genetic origin affect neurodevelopment, causing severe motor problems that are difficult to treat. Our team uses a multidisciplinary approach to develop personalized treatments based on precision medicine with these objectives:

  • 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.

Our team promotes clinical and translational research in hospital care programs, such as units specialized in Dystonia and other Movement Disorders, Ataxias and Paraparesis, the Fetal Medicine Unit for Prenatal Diagnosis of Neurological Diseases and the Gene Therapy group for Neuromuscular pathology. Our researchers lead projects in the ERN-RND.

Publications

Genetic diagnosis of basal ganglia disease in childhood.

PMID: 34988976
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2022
Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Impact factor:
Publication type: Paper in international publication
Authors: Baide-Mairena, Heidy; Cazurro-Gutierrez, Ana; Delgado, Ignacio; Garcia-Arumi, Elena; Macaya-Ruiz, Alfons; Marce-Grau, Anna; Marti-Sanchez, Laura; Moreno-Galdo, Antonio; Perez-Duenas, Belen; Sanchez-Montanez, Angel et al.
DOI: 10.1111/dmcn.15125

DLG4-related synaptopathy: a new rare brain disorder.

PMID: 33597769
Journal: GENETICS IN MEDICINE
Year: 2021
Reference: Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.
Impact factor:
Publication type: Paper in international publication
Authors: Aldinger, Kimberly A; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V A; Boerrigter, Melissa Maria; Bruel, Ange-Line; Challman, Thomas D; Cogne, Benjamin et al.
DOI: 10.1038/s41436-020-01075-9

PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.

PMID: 33606314
Journal: MOVEMENT DISORDERS
Year: 2021
Reference: Mov Disord. 2021 Apr;36(4):1038-1040. doi: 10.1002/mds.28492. Epub 2021 Feb 19.
Impact factor:
Publication type: Letter whit IF
Authors: Agolini, Emanuele; Baide-Mairena, Heidy; Correa-Vela, Marta; Marce-Grau, Anna; Martinelli, Diego; Masnada, Silvia; Parazzini, Cecilia; Perez-Duenas, Belen; Tonduti, Davide; Veggiotti, Pierangelo et al.
DOI: 10.1002/mds.28492

NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.

PMID: 33585677
Journal: Neurology-Genetics
Year: 2021
Reference: Neurol Genet. 2021 Jan 21;7(1):e543. doi: 10.1212/NXG.0000000000000543. eCollection 2021 Feb.
Impact factor:
Publication type: Letter whit IF
Authors: Adarmes, Astrid; Carrillo, Fatima; Espinos, Carmen; Hinarejos, Isabel; Jesus, Silvia; Lupo, Vincenzo; Macias-Garcia, Daniel; Martinez-Rubio, Dolores; Mir, Pablo; Perez-Duenas, Belen et al.
DOI: 10.1212/NXG.0000000000000543

COVID-19 in children with neuromuscular disorders.

PMID: 33387010
Journal: JOURNAL OF NEUROLOGY
Year: 2021
Reference: J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Alvarez Molinero, Mireia; Camacho, Ana; Cancho-Candela, Ramon; Costa-Comellas, Laura; Domingo Jimenez, Maria Rosario; Fernandez Ramos, Joaquin; Fernandez-Garcia, Miguel A; Garcia-Campos, Oscar; Garcia-Romero, Mar et al.
DOI: 10.1007/s00415-020-10339-y

MCT8 Deficiency: The Road to Therapies for a Rare Disease.

PMID: 32410949
Journal: Frontiers in Neuroscience
Year: 2020
Reference: Front Neurosci. 2020 Apr 28;14:380. doi: 10.3389/fnins.2020.00380. eCollection 2020.
Impact factor:
Publication type: Review in international publication
Authors: Barez-Lopez, Soledad; Gomez-Andres, David; Grijota-Martinez, Carmen; Guadano-Ferraz, Ana et al.
DOI: 10.3389/fnins.2020.00380

Consumption of Goat Cheese Naturally Rich in Omega-3 and Conjugated Linoleic Acid Improves the Cardiovascular and Inflammatory Biomarkers of Overweight and Obese Subjects: A Randomized Controlled Trial.

PMID: 32380746
Journal: Nutrients
Year: 2020
Reference: Nutrients. 2020 May 5;12(5). pii: nu12051315. doi: 10.3390/nu12051315.
Impact factor:
Publication type: Paper in international publication
Authors: Bermejo, Laura M; Calvo, Maria V; Fontecha, Javier; Gomez-Andres, David; Gomez-Candela, Carmen; Lopez-Plaza, Bricia; Santurino, Cristina et al.
DOI: 10.3390/nu12051315

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

PMID: 31898846
Journal: HUMAN MUTATION
Year: 2020
Reference: Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14.
Impact factor:
Publication type: Paper in international publication
Authors: Adang, Laura A; Ayuk, Loveline A; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E; Blumkin, Lubov; Boespflug-Tanguy, Odile et al.
DOI: 10.1002/humu.23975

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

PMID: 30634555
Journal: Journal of Clinical Medicine
Year: 2019
Reference: J Clin Med. 2019 Jan 10;8(1). pii: jcm8010068. doi: 10.3390/jcm8010068.
Impact factor:
Publication type: Paper in international publication
Authors: Arjona, Cesar; Armstrong, Judith; Artuch, Rafael; Bayona-Bafaluy, Pilar; Codina, Anna; Darling, Alejandra; Emperador, Sonia; Garcia-Cazorla, Angels; Gort, Laura; Jimenez-Mallebrera, Cecilia et al.
DOI: 10.3390/jcm8010068

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

PMID: 30476213
Journal: NUCLEIC ACIDS RESEARCH
Year: 2019
Reference: Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.
Impact factor:
Publication type: Paper in international publication
Authors: Balhoff, James P; Baynam, Gareth; Bello, Susan M; Beltran, Sergi; Bergerson, Jenna; Blau, Hannah; Boerkoel, Cornelius F; Brudno, Michael; Carmody, Leigh; Carter, Melody C et al.
DOI: 10.1093/nar/gky1105