International Course Training on strategies to foster solutions of undiagnosed rare disease cases

12-14 aprile 2021
International Course Training on strategies to foster solutions of undiagnosed rare disease cases
Istituto Superiore di Sanità, Roma

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 International Course
Training on strategies to foster solutions of undiagnosed rare disease cases
12-14 April 2021
Istituto Superiore di Sanità, Rome, Italy
ONLINE

GENERAL INFORMATION
Due to the force majeure situation, the international travel policies associated with COVID-19 and extraordinary measures to limit the spread of the virus, the Italian
health authorities (including the Istituto Superiore di Sanità, ISS), recommend adopting a precaution approach and cancel the planned trips and events. In order
to allow the correct progress of the planned tasks of EJP RD, ISS ensures that the international course “Training on strategies to foster solutions of undiagnosed rare
disease cases”, 12-14 April 2021, ISS, Rome will be held ONLINE

Programme of the Course

DAY 1 April 12, 2021
Morning session
9:30 Welcome address
Domenica Taruscio
9.45 Overview of the European Joint Program on Rare Diseases
Claudio Carta
10.00 The Undiagnosed Diseases Network International and the Italian National Undiagnosed Network coordinated by ISS
Domenica Taruscio, Marco Salvatore
10:15 Solved and Unsolved Use Cases from ACURARE-ACIBADEM University, Rare Diseases and Orphan Drugs Application and Research Center, Turkey
Ugur Ozbek, Yasemin Alanay,
11:00 Questions & Answers
11:15 Break
11:30 ACUgen – in house Exome and Genome analysis pipeline
Özkan Özdemir
11:45 Hands-on exercise
12:30 End of morning session

Afternoon session
15:00 Use Cases from Solve-RD, Solving the unsolved Rare Diseases
Richarda de Voer
15:45 Questions & Answers
16:00 Break
16:15 Solving RDs with the RD-Connect Genome-Phenome Analysis Platform
Sergi Beltran, Leslie Matalonga
16:30 Hands-on exercise
17:30 End of the day 1

DAY 2 April 13, 2021
Morning session
10:30 Use Cases from Instytut Pomnik- Centrum Zdrowia Dziecka, Poland
Piotr Socha
11:15 Questions & Answers
11:25 Break
11:35 Use Cases from Instytut Pomnik- Centrum Zdrowia Dziecka, Poland
Diana Kaminska
12:20 Questions & Answers
12:30 End of morning session

Afternoon session
15:00 Use Cases from the “Undiagnosed Patients Program”, Ospedale Pediatrico Bambino Gesù, Italy
Marco Tartaglia
15:45 Questions & Answers
16:00 Use Cases from the “Undiagnosed Patients Program”, Ospedale Pediatrico
Bambino Gesù, Italy
Marco Tartaglia
16:45 Questions & Answers
17:00 End of the day

DAY 3 April 14, 2021
Morning session
10:15 Use Cases from Aix Marseille Université, France
Christophe Béroud
11:00 Questions & Answers
11:20 Break
11:30 Tool Demo Introduction from Aix Marseille Université, France
Christophe Béroud
11:45 Hands-on exercise
12:30 End of morning session

Afternoon session
15:00 Use Cases from Sir Ganga Ram Hospital, India
Ratna Dua Puri
15:45 Questions & Answers
16:00 Break
16:15 Use Cases from Sir Ganga Ram Hospital, India
Ratna Dua Puri
17:00 Questions & Answers
17:15 Closing remarks
17:30 End of the Course

SPEAKERS and TRAINERS
 Yasemin Alanay Acibadem Mehmet Ali Aydinlar University, Rare Disease and Orphan Drug Research and Application Center and School of Medicine, ACU/ACURARE, Istanbul, Turkey
 Sergi Beltran, Centre Nacional d’Anàlisi Genòmica, CNAG-CRG, Barcelona, Spain
 Christophe Béroud, Human Genetics of Aix-Marseille University, AMU, Marseille, France
 Claudio Carta, National Centre for Rare Diseases, CNMR, ISS, Rome, Italy
 Richarda de Voer, Radboud University Medical Centre (Radboudumc), Nijmegen, Netherlands
 Diana Kaminska Instytut Pomnik- Centrum Zdrowia Dziecka, Warsaw, Poland
 Leslie Matalonga, Centre Nacional d’Anàlisi Genòmica, CNAG-CRG, Barcelona, Spain
 Ugur Ozbek, Acibadem Mehmet Ali Aydinlar University, Rare Disease and Orphan Drug Research and Application Center and School of Medicine, ACU/ACURARE, Istanbul, Turkey
 Özkan Özdemir Acibadem Mehmet Ali Aydinlar University, Rare Disease and Orphan Drug Research and Application Center and School of Medicine, ACU/ACURARE, Istanbul, Turkey
 Ratna Dua Puri, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
 Marco Salvatore, National Centre for Rare Diseases, CNMR, ISS, Rome, Italy
 Piotr Socha, Instytut Pomnik- Centrum Zdrowia Dziecka, Warsaw, Poland
 Marco Tartaglia, Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy
 Domenica Taruscio, National Centre for Rare Diseases, CNMR, ISS, Rome, Italy

COURSE DIRECTOR
Domenica Taruscio, National Centre for Rare Diseases, ISS, Rome, Italy

SCIENTIFIC SECRETARIAT
Claudio Carta (Coordinator), Marco Salvatore, National Centre for Rare Diseases, ISS, Rome, Italy email: Questo indirizzo email è protetto dagli spambots. È necessario abilitare JavaScript per vederlo.

ORGANIZING SECRETARIAT
Linda Agresta, Daniela Bernardo, Laura Lee Cellai, Patrizia Crialese, Stefano Diemoz, National Centre for Rare Diseases, ISS, Rome, Italy
email: Questo indirizzo email è protetto dagli spambots. È necessario abilitare JavaScript per vederlo.

OFFICIAL LANGUAGE Workshops will run in English.
VENUE ONLINE