FMRgene premutation; PM): cognitive-behavioral characterization and precision medicine approa
Listed on 2026-01-22
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Research/Development
Research Scientist, Data Scientist
Location: Town of Italy
Organisation/Company Regione Puglia Research Field Psychological sciences Researcher Profile Recognised Researcher (R2) Leading Researcher (R4) First Stage Researcher (R1) Established Researcher (R3) Final date to receive applications 22 Jan 2026 - 23:59 (UTC) Country Italy Type of Contract To be defined Job Status Not Applicable Is the job funded through the EU Research Framework Programme? Not funded by a EU programme Is the Job related to staff position within a Research Infrastructure?
No
Retrospective identification of patients with FMR1 gene premutation:
Through a retrospective clinical and molecular analysis, adult patients of both sexes with PM and FXS will be identified. This strategy will help improve diagnostic accuracy and clinical management of conditions such as FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome is a neurodegenerative condition that causes tremor, ataxia, and cognitive problems in people with a mutation in the FMR1 gene, linked to the X chromosome).
PM affects on average 1 in 200 women and 1 in 450 men. FXTAS is more common in males and usually begins after the age of 50. To date, FXTAS in women is more complex to identify in the earlier stages) and other neurodegenerative diseases, contributing to the development of personalized precision medicine pathways.
- Longitudinal assessment of cognitive, neuropsychological, and psychopathological profiles.
- Italy
- OTHER
Eligibility of fellows: country/ies of residence:
- EUROPE
- OTHER
Eligibility of fellows: nationality/ies:
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