Posters
Intermediate ATXN1/ATXN2 expansions in non-SCA neurodegenerative disorders (ePoster EP11.084)
A study of 150 brain donors (WGS + PCR/TP-PCR validation) detects intermediate CAG expansions in ATXN1 (9.3%) and ATXN2 (10.0%), with co-occurrence in 1.3%, present in various diagnoses (ALS, Alzheimer's, PSP, Parkinson's, among others). Carriers showed a disease onset ~2.3 years earlier (significant in ATXN1, and in Alzheimer's with ATXN1), which supports their role as risk factors/modulators and suggests considering genetic testing and counseling in certain non-SCA cases.
NAGEN-data: analysis of the legal framework applicable to the sharing and discovery of genomic data
The poster (ePoster EP26.005) presents a legal reference analysis for NAGEN-data: it reviews GDPR, LOPDGDD, the Biomedical Research Law and the future EHDS, and defines high-impact areas for compliance: the legal basis for processing, technical-organizational measures (e.g., pseudonymization, use of Beacon v2 for data discovery and Keycloak for access control) and the performance of a Data Protection Impact Assessment (DPIA). It concludes that the current framework allows the proposed ecosystem provided that such safeguards are applied by design and by default.