Daniel Natera de Benito
Investigador post-doc
Research group
Research line:
Precision for NeuroMusKids: A Precision Medicine Approach for Children with Neuromuscular Diseases
Daniel Natera de Benito is a pediatric neurologist specializing in neuromuscular diseases. He obtained his medical degree from the University of Salamanca in 2009, specialized in pediatrics in 2013, and obtained in 2015 and 2022 the Master's degrees in Neuropediatrics and the Master's in Genetics and Genomics from the University of Barcelona. Since 2017, he has been a doctor of medicine at the University of Barcelona.
In 2017, he joined the Neuromuscular Unit of the SJD Barcelona Children's Hospital, combining clinical work with biomedical research.
Between 2019 and 2020 he completed a postdoctoral stay at the Dubowitz Neuromuscular Center (University College London; UCL Great Ormond Street Institute of Child Health) where he obtained training oriented to the discovery of new genes in neuromuscular diseases.
He currently holds a Miguel Servet contract with the research line "Precision for NeuroMusKids", through which he investigates the biological pathways that underlie neuromuscular disorders, seeks out fresh genes, employs a thorough phenotypic profiling, and utilizes genomic analysis to gain a deeper comprehension of the pathophysiology of neuromuscular disorders.
Furthermore, he holds the position of principal investigator for the ArmTracker project, which is financed by Fundació La Marató de TV3. This project aims to assess the motor function of the upper extremities in patients with neuromuscular diseases by means of a portable system.
Professional network profiles
Last Publications
- Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM and Laurie S Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. npj Genomic Medicine . 9(1): 49-49.
- 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 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 and Savarese M Inferring disease course from differential exon usage in the wide titinopathy spectrum. Annals of Clinical and Translational Neurology . 11(10): 2745-2755.
- Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases EUROPEAN JOURNAL OF HUMAN GENETICS . : .
Projects
- Project name:
- Ajuts Joan Oró per a la contractació de personal investigador predoctoral en formació (FI 2024). Beneficiari: Esteve, Berta
- Leader
- Daniel Natera de Benito
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2024 FI-1 00075
- Starting - finishing date:
- 2024 - 2027
- Project name:
- Realización de un ensayo observacional maestro orientado a las enfermedades raras para descifrar la complejidad y optimizar la preparación del ensayo; red PROMOTE
- Leader
- Daniel Natera de Benito
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- AC23_2/00026
- Starting - finishing date:
- 2024 - 2026
- Project name:
- Miguel Servet (Contrato)
- Leader
- Daniel Natera de Benito
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- CP22/00141
- Starting - finishing date:
- 2023 - 2027