19-21 giugno 2018, Napoli – 6th Conference of Undiagnosed Diseases Network International
19-21 giugno 2018 presso la sede di Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078. Pozzuoli (NA), Italy
Programma delle giornate
Martedì 19 giugno
18:30 Cena di benvenuto – Partecipanti provenienti dall’estero (per gentile concessione di TIGEM).
Mercoledì 20 giugno
Sessione 1 – Chairs: William Gahl, Giorgio Casari
ore 9.30 Benvenuto
Giorgio Casari (Coordinator, Telethon UDP, TIGEM);
Helene and MikkCederroth(Wilhelm Foundation)
9:30-9:45 UDNI Organization.
Obiettivi del convegno:
Comitato/Rapporti del gruppo di lavoro (Committee/Working Group Reports)
Conferma delle politiche di condivisione dei dati
Discutere di scienza e di casi
Indirizzo Futuro dell’UDNI
Su cosa voteremo (Charter, Appendici, proposte BOD)
Chi vota (oggi e in futuro)
William Gahl
9:45-10:30 Rapporti del comitato
9.15-9.30 Membri (Eric Klee)
9.30-9.45 Programma (Vincenzo Nigro, William Gahl)
9.45-10.00 Comunicazioni (Domenica Taruscio)
10:30-11:00 Rapporti sui gruppi di lavoro
11:00-11:30 Coffee/Vitamin Break (TIGEM)
SESSION 2: Chairs: Vincenzo Nigro and Nicola Brunetti-Pierri
11:30-12:00 Scienza/Casi risolti (6 min: 4 min present+ 2 min Q&A)
M. Posada: Data sharing: lights and shadows shown through two undiagnosed cases
D. Babovic-Vuksanovic:RINT1biallelic alterations: a novel cause of infantile onset recurrent liver failure with dysostosis multiplex
A. Pujol (DEGS1):Biallelic mutations of the dihydroceramidedesaturase DEGS1 gene cause a novel hypomyelinatingleukodystrophy with atherapeutic hope
12:00-1:00pm Casi – Mysteri (6 min: 4 min presentazione + 2 min Q&A)
C. Radio: The Undiagnosed Patients Program @OPBG
Y. Anikster: Affected siblings sharing homozygous nonsensemutations in new genes: Does n=1 or 2?
A. Nordgren: An unknown syndrome in a boy with intellectual disability, structural brain anomalies,
ulnar polydactyly, tetralogy of Fallot, skeletal abnormalities, hypospadias and dysmorphic features
U. Ozbek: Missense EPG5 mutation segregation in 2 siblings withisolated neurological involvement.
Isolated form of Vici syndrome?
N. Brunetti-Pierri: RAB10: a candidate gene for a severe Phenotypewith developmental delay, hypotonia,
epilepsy and microcephaly
N. Brunetti-Pierri: Ectodermal dysplasia and syndactyly of Handsandfeet in a subject harboring compound
heterozygous variants in the ZFYVE16 gene
R. Puri: Undiagnosed case of dysmorphic features
G. Baynam: Undiagnoseddysmorphic case
13:00 – 14:00 Pranzo (TIGEM)
SESSION 3: Chairs Domenica Taruscio and Gareth Baynam
14:00-16:00 Reti di collaborazione, servizi, innovazioni
14:00-14:20 WuXi NEXTCODE, Christina Waters
14:20-14:40 Models and Mechanisms, Paul Lasko (Canada)
14:40-15:00 Studies with indigenous populations Gareth Baynam (Australia) Paul Lasko (Canada)
15:00-15:20 Genetic Counseling in the UDNI Resource Packs +/- a Diagnosis, Janine Lewis, GARD
Cases, Stephanie Broley, Australia
15:20-15:40 COST; Geographical bottlenecks, Bela Melegh, ZeynepTumer, Manuel Posada, Domenica Taruscio
15:40-16:00 A Genetic Evaluation Pipeline, Kevin Strauss, USA
16:00-16:30 Coffee/Vitamin Break (TIGEM)
Session 4 – Chairs: Holm Graessner and KenjiroKosaki)
16.30-16:45 Solve-RD Consortium, Holm Graessner, Tubingen
16:45-17:00 Efforts in rare and undiagnosed Diseases, Claudia Gonzaga-Jauregui, Regeneron
17:00-17:15 Japan’s IRUD, data sharing, model organism team, KenjiroKosaki, AMED
17:15-17:20 Korea’s UDP-web for international data sharing, DongsungRyu
17.20-17:35 Innovative NGS Methods to Diagnose the Undiagnosed, Vincenzo Nigro (Telethon)
17:35-17:40 NIH Undiagnosed Diseases Network Affiliate Members, Anastasia Wise
17:40-18.00 Discussion on all Networks, Services, Innovations
18.00 Aggiornamento
18:30 Cena (Wilhelm Foundation)
Giovedì 21 giugno
8: 30- 9:00 Opuscoli di settore disponibili
9:00-9:20 Data Sharing. David Adams, NIH UDP, Tudor Groza, Patient Archive, Michael Brudno
9:20-9:40 Options for data sharing, David Adams
9:40-10:00 Progress Report on Phenome Central Entries, Michael Brudno
Panel 1: Within Nation Sharing Experiences
Panel II: International Sharing Experience
10:00-10:15 RD-Connect, Solve-RD, and the UDNI, Manuel Posada, Domenica Taruscio
10:15-10:30 Discussion of UDNI-wide federated systems
10:30-11:00 Coffee/Vitamin Break (TIGEM)
11:00-12:15 Business Discussion (Gahl)
- Ratify Charter, Appendices
- Choose Database (Noda Bene?)
- ConfirmNew Committee Members
- Discuss Other Working Groups
- Patient Recruitment
- Next Meeting
- Other topics, Announcements
12:15-13:30 Pranzo (TIGEM)
13.30-13.50 Management of the (quite) unmanageable: Pros and Cons of a super-network based Undiagnosed Diseases Program, Raffaele Castello
13:50-14:35 Considerations of Philanthropy, Gareth Baynam, Steve Groft, Paul Lasko
14:35-15:45 Sustainability of the UDNI
- Use and Outcomes Data
- Administrative Requirements and Staff
- Measures of Success: Applications, Acceptances, Publications
15.45-16.15 Coffee/Vitamin Break
16.15-16.-45 Prossimo appuntamento e votazione.
16.45.17.15 Tour dell’Istituto
17.15-18.30 TBD. Casi o discussioni dal piano o aggiornamento
18.30 Goodbye Addio; Cena di rafforzamento della rete (Wilhelm Foundation)
Per scaricare il programma in lingua originale in formato pdf: http://www.udninternational.org/documenti/news/140_attachment_272.pdf
Fonte: Undiagnosed Diseases Network INTERNATIONAL (UDNI)
