Morning
08.15-08.45 COFFEE
Moderator Saila Laakso, Finland
08.45-08.50 Welcome Mikko Seppänen, Finland
08.50-09.00 Introduction to the Workshop Outi Mäkitie, Finland
09.00-09.30 Skeletal dysplasias - An overview of the disease spectrum Geert Mortier, Belgium
09.30-10.00 Childhood fractures - when to consider OI or child abuse? Else Merckoll, Norway
10.00-10.20 Case presentations: Norwegian cases Cecilie Rustad
10.20-10.35 COFFEE
10.35-11.05 Panels, WES, WGS, RNAseq - an update on genetic tools Giedre Grigelioniene, Sweden
11.05-11.30 Mulibrey nanism - a Finnish skeletal dysplasia Susann Karlberg, Finland
11.30-11.55 Shwachman-Diamond syndrome – from skeletal and gastrointestinal
phenotype towards a high-risk hematological syndrome Ulla Wartiovaara-Kautto, Finland
11.55-12.15 Case presentations: Danish cases Hanne Hove, Merete Ljungberg
12.15-13.15 LUNCH AT BIOMEDICUM HELSINKI
Afternoon
Moderator Sanna Toiviainen-Salo, Finland
13.15-13.45 Achondroplasia - un update on novel treatments Melita Irving, UK
13.45-14.15 Hypophosphatemic rickets - new treatments Ola Nilsson, Sweden
14.15-14.35 Case presentations: Swedish cases Ulrika Voss, Ola Nilsson
14.35-14.55 COFFEE
14.55-15.25 An update on hypophosphatasia Liisa Viikari, Finland
15.25-15.45 Case presentations: Finnish cases Matti Hero, Heidi Toiminen
15.45-16.30 Short presentations: three presentations à 15 min Maria Haanpää, Aušra Matulevičienė, Kirsi Määttä
16.30-16.35 Closing remarks, Outi Mäkitie
***
18.00 The Workshop Dinner - Restaurant Sofia
Address: Aleksanterinkatu 28, Helsinki
Please note that a separate registration is required by April 29, 2022
This Dinner has been sponsored by Alexion and BioMarin Europe Limited