Ref. 4365_Att. 3 - Translational Neurogenetics: From Molecular Diagnosis to Innovative Therapies for Hereditary Neuromuscular and Neurodegenerative Disorders
Core
Conduct research in neurogenetics focusing on early diagnosis, optimizing molecular diagnostic pathways, and developing therapeutic strategies for hereditary neuromuscular and neurodegenerative disorders.
Role type
Researcher (Translational Neurogenetics)
Builds
Integrated and personalized diagnostic and therapeutic pathways
Domain
Healthcare / Neurogenetics / Molecular Diagnostics
Deliverable
research
Required skills
Third-generation sequencing technologies, multi-omic approaches, functional characterization of genetic variants, identification of disease-associated genes
Preferred skills
Translation of research results into clinical practice
Technologies
Third-generation sequencing, multi-omic platforms
Responsibilities
Optimize molecular diagnostic pathways, identify novel disease-associated genes, validate new therapeutic targets, characterize genetic variants
Seniority
Individual Contributor
