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Neus Castells Sarret

Institutions of which they are part

Postdoctoral researcher
Genetics Medicine
Vall Hebron Institut de Recerca

Neus Castells Sarret

Institutions of which they are part

Postdoctoral researcher
Genetics Medicine
Vall Hebron Institut de Recerca

Projects

Identification and functional characterization of structural variants in patients with inborn errors of immunity

IP: Roger Colobran Oriol
Collaborators: Romina Dieli Crimi, Aina Aguiló Cucurull, Laura Batlle Masó, Andrea Martín Nalda, Neus Castells Sarret
Funding agency: Instituto de Salud Carlos III
Funding: 208750
Reference: PI23/00161
Duration: 01/01/2024 - 31/12/2026

Related news

The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.

On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.

The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.

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