Important Dates

  • Deadline for applications: 10th November 2023
  • Workshop date: 28-29 November 2023 (lunch-to-lunch)


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


The workshop does not include a fee, but the participants are expected to pay their own travel and accommodation costs (if any).


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


  • Rita Casadio (Università di Bologna)
  • Emidio Capriotti (Università di Bologna)
  • Claudio Carta (ISS)
  • Luana Licata (Università di Roma “Tor Vergata)


For queries, please contact the organisers at:

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) ( 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

14:30 - 15:00 Elixir IT: Rita Casadio UNIBO, Emidio Capriotti UNIBO, Claudio Carta ISS:
The Italian Rare Disease Community
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)
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

09:30 - 11:00 Presentations by young researchers
  • Giulia Babbi. UNIBO. Reactome pathways and Rare Diseases.
  • Damiano Parrone. UNIROMA1. A resource to explore drug repurposing opportunities for rare conformational diseases.
  • Cesare Rollo. UNITO. Deciphering Myelodysplastic Syndrome: A Deep Learning Approach for Prognosis Prediction and genomic Characterization.
  • Giulia Sassi. UNIPR. Illuminating Pharos TDarks: a coevoluzionary approach to rare diseases.
  • Bernardina Scafuri. UNISA. Identification of two possible pharmacochaperones for GALTp.Q188R enzyme by a computational strategy.
  • 11:00 - 11:30 Coffee break
    11:30 13:00 Rare disease diagnosis: Use case presentations
  • Michele Pinelli, Universita’ Federico II, Napoli Genomic annotation for the interpretation of DNA sequencing in rare diseases.
  • Tania Giangregorio, Ospedale Sant’Orsola, Bologna Workflows for the analysis of CNVs from microarray and NGS data.
  • Maria Cerminara, Istituto Gaslini, Genova Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by possible oligogenic mechanisms.
  • Alfredo Brusco, Università di Torino. Disentangling uncommon genetic causes of neurodevelopmental disorders.

  • Perspectives and closing