Analysis and collection of rare disease data: a joint effort of biomedical and bioinformatics research communities.
| - |Important Dates
- Deadline for applications: 10th November 2023
- Workshop date: 28-29 November 2023 (lunch-to-lunch)
Venue
Sala Lettura (Biblioteca) A, National Research Council of Italy (CNR)
Piazzale Aldo Moro 7
00185 Rome, Italy
(link to the map)
Google maps coordinates: 41.900172, 12.510338
Fee
The workshop does not include a fee, but the participants are expected to pay their own
travel and accommodation costs (if any).
Selection
As the event venue has a maximum capacity of 40 seats, a maximum of 40 participants will be accepted based on a first-come-first-served basis.
Application Form
Organisers
- Rita Casadio (Università di Bologna)
- Emidio Capriotti (Università di Bologna)
- Claudio Carta (ISS)
- Luana Licata (Università di Roma “Tor Vergata)
Contact
For queries, please contact the organisers at: elixir.it.projects@gmail.it
Workshop Description
The ELIXIR Italy community interested in Rare Diseases (RDs) has the main goal of supporting with data analysis the research performed in the regional units with the aim of creating a reference hub for Researchers, Clinicians, Rare disease patients and stakeholders . In Italy, since 2001, initiatives such as the Italian Network on RDs dedicated to the prevention, surveillance, diagnosis and therapy of RDs and a national registry of RDs have been established at the National Institute of Health (ISS) (https://www.iss.it/en/web/guest/cnmr-copertina) moreover in 2008, the National Centre for Rare Diseases was formally established in ISS. In 1999 was founded UNIAMO (the Federazione Italiana Malattie Rare), is a non-governmental patient-driven Federation representing more than 150 RD patient Associations. All the initiatives are collaborating at international level. The focus of the workshop is the integration of different clinical and bioinformatic approaches to characterize RDs with a particular attention to Italian cases, and how to integrate them into an international framework. In this workshop, researchers from different biomedical communities active in the territory will have the opportunity to define their computational needs together with experts in different aspects of bio-sequence analysis with the aim of sharing experiences and integrating knowledge in different aspects of the complex problem of research, diagnosis and care of RDs.
Programme (pdf)
Tuesday, 28th November 2023 - Sala lettura A (Biblioteca) CNR, P.le Aldo Moro 7 |
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| 14:30 - 15:00 | Elixir IT: Rita Casadio UNIBO, Emidio Capriotti UNIBO, Claudio Carta ISS: The Italian Rare Disease Community |
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| 15:00 - 15:30 | Elixir NL: European RD Communities. Marco Roos (ONLINE) | ||
| 15:30 - 16:00 | Elixir UK: Research Data Management. Munazah Andrabi (ONLINE) | ||
| 16:00 - 16:30 | Coffee break | ||
| 16:30 - 17:00 | Rare Disease Patient Representatives Annalisa Scopinaro, President of UNIAMO, Federazione Italiana Malattie Rare, Rome, Italy (ONLINE) |
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| 17:00 - 17:30 | Istituto Superiore di Sanità (ISS): Rare disease activities. Domenica Taruscio (ONLINE), Former Director National Centre for Rare Diseases | ||
| 17:30-18:00 | Ospedale Bambin Gesù: Orphanet Italia. Michele Nutini | ||
Wednesday, 29th November 2023 - Sala lettura A (Biblioteca) CNR, P.le Aldo Moro 7 |
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| 09:30 - 11:00 | Presentations by young researchers |
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| 11:00 - 11:30 | Coffee break | ||
| 11:30 13:00 | Rare disease diagnosis: Use case presentations
Perspectives and closing |
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