SNPs and GO
Thirty two novel nsSNPs May effect on HEXA protein Leading to Tay-Sachs disease…
Rare Diseases
About the Community
The ELIXIR Rare Disease Community empowers regional genetic screening units across Europe by providing data analysis support. Its goal is to create a central hub of information for researchers and patients affected by rare diseases. Key activities of the Rare Disease Community include:
Standardised Resources and Tools:
- Maintain a curated registry of critical data resources and analysis tools on bio.tools, ensuring they comply with FAIR data principles;
- Collaborate with key stakeholders like RD-Connect and BBMRI(-NL) to standardise rare disease research services across Europe.
Data Access Portal for Researchers:
- Develop a secure online portal for authorised researchers to access European rare disease data;
- Support the development of an Implementation Study for real-time data visualisation tools.
Educational Initiatives:
- Organise training courses, workshops, and hackathons to educate researchers on using ELIXIR services effectively;
- Focus training materials on the specialised needs of the rare disease community.
Contribution of ELIXIR Italy
Italy demonstrates a strong commitment to combating rare diseases. Since 2001, the National Institute of Health (ISS), member of ELIXIR-IT, has spearheaded initiatives such as:
- The Italian Network on Rare Diseases: This network focuses on prevention, surveillance, diagnosis, and treatment of rare diseases.
- A National Register of Rare Diseases: This registry facilitates data collection and maintenance for rare diseases in Italy;
- Complementing these government efforts, UNIAMO, a patient-driven federation established in 1999, represents the voices of 150 rare disease patient associations. UNIAMO advocates for improved care and research.
ELIXIR-IT plays a vital role in advancing rare disease research by:
- Align with the ELIXIR Rare Disease Community: ELIXIR-IT ensures its training programs and expertise are aligned with best practices established by the international ELIXIR Rare Disease Community.
- Empower Researchers: ELIXIR-IT offers training programs designed to equip researchers with the necessary skills to accelerate progress in rare disease research. For more information, please visit the Istituto Superiore di Sanità Initiatives and the International Summer School on Rare Disease Registries and FAIRification of Data.
