Syndromdiagnostikkmøtet 2018 (Karen Hele Ørstavik's Dysmorphology) 26. møte

Informasjon

Forskere og erfarne leger (og andre målgrupper som for eksempel tannleger) som jobber med syndromutredning og diagnostisering av sjeldne sykdommer.

Onsdag 29. august

Part 1: Educational session

08.00

Registration. Delivery of Power-Point slides.

Coffee and snacks.

08.15

Welcome.

Siren Berland, Trine Prescott. Quiz (10 min) (in Norwegian).

08.30

Utredning av alvorlige sykdommer og utviklingsavvik

med debut i barneårene - nye muligheter for gentesting. Trine Prescott

08.30

Welcome.

Trine Prescott and Gunnar Houge

08.40

Instructive case series.

Emilia Bijlsma (Leiden)

09.30

Genetic testing, panels, pitfalls, indications and

prioritization, PHO etc.

09.55

Break. Delivery of PowerPoint slides.

10.15

"The eye as a clue to diagnosis".

Jill Clayton-Smith, Manchester

11.00

Quiz-gjennomgang.

11.15

Break. Delivery of PowerPoint slides.

Part 2 - Dysmorphology meeting

11.30

Welcome.

Gunnar Houge

11.45

Update from The Norwegian National Advisory

Unit on Rare Disorders (NKSD).

12.00

Han Brunner (Nijmegen).

12.30

Lunch.

13.15

Dian Donnai (Manchester).

13.45

Cases.

14.45

Break with coffee and snacks.

15.00

Case presentations.

Torsdag 30. august

08.00

Registration. Delivery of Power Point slides.

08.30

Welcome.

Trine Prescott, Gunnar Houge

08.40

Instructive case series.

Emila Bijlsma (Leiden)

09.00

A father's journey on alpha-mannosidosis.

Dag Malm, Tromsø

09.45

Break with coffee and snacks.

10.05

Han Brunner (Nijmegen).

10.35

Cases. Award for best presentation by trainee clinicians.

12.00

Lunch.

13.00

Dian Donnai (Manchester).

13.30

Emilia Bijlsma (Leiden).

13.50

Break.

14.00

Cases.

14.45

Break with coffee and snacks.

15.00

Cases.

16.00

End of course.

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