In 2021 an international consortium on Rubinstein-Taybi Syndrome (RTS) started to write a best practice clinical guideline supported by the ERN-ITHACA.
The group had their first online meeting in January 2021 and the guideline is nearing its completion.
Through an event organised by ER-ITHACA and the local support of Haukeland University, the RTS consortium is going to meet face-to-face in order to discuss the guideline recommendations and to strengthen the collaboration around the syndrome.
The meeting will be restricted to members of the RTS consortium, but if you are a patient representative with special interest in RTS, please feel free to contact us to express your interest on the meeting.
Program:
| DAY 1 | SEPTEMBER 29, 2022 |
| 13:00 | Welcome Didier Lacombe, France |
| 13:10 | Short historical introduction Raoul Hennekam, Netherlands |
| 13:30 | Outline of the meeting Didier Lacombe, France |
| 13:40 | Ch 1 Introduction Didier Lacombe, France |
| 13:45 | Ch2 Clinical diagnostic criteria Sofia Douzgou, Norway |
| 14:45 | Ch3 Molecular diagnostic criteria Julien van Gils, France |
| 16:15 | Ch4 Neonatal care Lloyd Tooke, South Africa (online) |
| 16:45 | Ch5 Endocrinology Leonie Menke, Netherlands |
| 17:15 | Ch6 Gastroenterology Sixto Garcia-Minaur, Spain |
| 17:45 | Ch7 Heart and lungs Donatella Milani, Italy (online) |
| DAY 2 | SEPTEMBER 30, 2022 |
| 09:00 | Ch8 Eyes Maria Van Genderen, Netherlands (online) |
| 09:30 | Ch9 ENT Edward Cooper, USA |
| 10:00 | Ch10 Dermatology Cecilie Bredrup, Norway |
| 10:45 | Ch11 Urogenital system Leonie Menke, Netherlands |
| 11:15 | Ch12 Musculoskeletal system Cathy Stevens, USA |
| 11:45 | Ch13 Intra-oral Agnes Bloch-Zupan, France (online) |
| 13:30 | Ch14 Immunology Francesco Saettini, Italy (online) |
| 14:00 | Ch15 Neurology Hulya Kayserili, Turkey |
| 14:30 | Ch16 Development Lidia Larizza, Italy (online) |
| 15:45 | Ch17 Behaviour Jane Waite, UK (online) |
| 16:45 | Ch18 Adult care Sofia Douzgou, Norway |
| 17:00 | Ch19 Clinical trials Didier Lacombe, France |
| 17:15 | Voting for all recommendations Including as many online participants as possible |
| 17:45 | Final remarks and implementation of the guideline Didier Lacombe and Raoul Hennekam |