Program

Thursday May 2nd 

08.15-08.45 Registration, coffee/tea/fruit

08.45-09.00 Welcome, Hanne Hove, Pernille Axél Gregersen, Klaus Hindsø

Skeletal Dysplasia and Syndromes with skeletal involvement (moderator Ravi Savarirayan)

09.00-09.30 RUNX2-related disorders, Geert Mortier

09.30-10.00 New genes and mechanisms in genetic skeletal disorders, Giedre Grigelioniene

10.00-10.30 Skeletal findings in syndromology, part 1 (ie. eye, heart, immunology/pulmonology), Ravi Savarirayan

10.30-11.00 Norwegian cases, Svein Fredwall, Else Merckoll and Ragnhild Drage

11.00-11.30 Coffee break: discussions with colleagues and viewing poster presentations by our sponsors 


Free lectures, open session (moderator Giedre Grigelioniene)

11.30-11.45  Nordic PhD projects on Skeletal Dysplasia, Astrid Midtiby and Hillevi Lindelöf 

11.45-12.00  Skeletal deformity correction in bone dysplasia, Mathias Hauge Bünger  

12.00-12.15  Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia, Hanne Hove

12.15-12.30  Denosumab treatment in RankL-mediated conditions - case-presentations, Stense Farholt and Signe Beck-Nielsen

12.30-13.30 Lunch at Restaurant Copenhagen Scandic Hotel


New treatments in Skeletal Dysplasia (1) (moderator Hanne Hove)

13.30- 14.00  Targeted treatments for skeletal dysplasia, Melita Irving

14.00-14.45  Pharmacological treatment approaches in mosaic overgrowth syndromes, Guillaume Canaud

14.45-15.10 Danish cases, Pernille Axél Gregersen

15.10-15.40 Coffee break: discussions with colleagues and viewing poster presentations by our sponsors 


Management of adults with skeletal dysplasia (1) (moderator Pernille Axél Gregersen)

15.40-16.00 Hypophosphatasia, results from a PhD study in adults, Nicola Hepp

16.00-16.20 Osteogenesis Imperfecta: challenges in the adult population, Lars Folkestad

16.20-17.00 Type II collagen disorders, Geert Mortier

19.00- Dinner at Restaurant Copenhagen Scandic Hotel


Friday May 3rd

08.30-09.00 Swedish cases, Ola Nilsson and Ulrika Voss

Prenatal diagnosis of skeletal dysplasia (moderator Merete Ljungberg)

09.00-09.30 Ethical aspects of whole genome sequencing, Anne-Marie Gerdes

09.30-10.00 Establishing a family, pregnancy and delivery, Olav Bennike Bjørn Petersen

10.00-10.30 Finnish cases, Outi Makitie, Helena Valta

10.30-11.00 Coffee break: discussions with colleagues and viewing poster presentations by our sponsors  


Radiology in skeletal dysplasia (moderator Geert Mortier)

11.00-11.45 Radiological approach to skeletal dysplasia, Gen Nishimura


From patient to citizen (moderator Svein Fredwall)

11.45-12.05 ”Sjældne Diagnoser” (umbrella patient-organisation, NGO), Lene Jensen

12.05-12.30 Spreading knowledge about being rare, Hjalte, Bastian and Piet, patient representative

12.30-13.30 Lunch at Restaurant Copenhagen Scandic Hotel


New treaments in skeletal dysplasia (2) (moderator Melita Irving)

13.30-14.00 Primary osteoporosis in children, Signe Beck-Nielsen

14.00-14.30 Bone mineralisation disorders, Outi Makitie

14.30- 15.10 Skeletal findings in syndromology, part 2 (ie. endocrinology, kidney, skin), Ravi Savarirayan


Concluding remarks

15.10-15.25 Concluding remarks, evaluation and passing the baton, Hove/Gregersen/Hindsø

15.25-15.45 Coffee break: discussions with colleagues and viewing poster presentations by our sponsors 


Invited speakers:

Dr. Geert Mortier, Belgium
Dr. Gen Nishimura, Japan
Dr. Giedre Grigelioniene, Sweden
Dr. Melita Irving, UK
Dr. Outi Makitie, Finland
Dr. Guillaume Canaud, France
Dr. Ravi Savarirayan, Australia