IMS Gesellschaft für akademischen Forschungstransfer mbH

IMS Gesellschaft für akademischen Forschungstransfer mbH

Interactive Medical Science

  • Begin: 30.05.2018
  • End: 02.06.2018

Arrangement by Prof. Julia B. Hennermann
Department of Pediatric and Adolescent Medicine
University Medical Center Mainz

Questions regarding the scientific program of the course should be addressed to:

Professor Julia Hennermann
Pediatric Department,
University Medical Center Mainz
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Questions regarding logistics can be addressed to:

IMS GmbH, Sabine Michels
Tel: +49-6131/17-5763
Fax: +49-6131/17-6608
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Registration deadline: 30.04.2018


Program

Wednesday, 30 May 2018

13.00 - 14.00 Arrival / Lunch-Snack
14.00 - 14.15 Welcome and Introduction
Julia B. Hennermann
14.15 - 15.00 LSDs – A clinical overview
Michael Beck
15.00 - 16.00 Cellular pathophysiology of LSDs
Volkmar Gieselmann
16.00 - 16.30 Coffee break
16.30 - 17.15 Defects of lysosomal membrane proteins
Paul Saftig
17.15 - 17.45 Neonatal screening for LSDs
Alberto Burlina
17.45 - 18.30 Principles of laboratory diagnosis in LSDs
Marie T. Vanier
19.30 Welcome Dinner

Thursday, 31 May 2018

8.30 - 9.30 Mucopolysaccharidoses and Mucolipidoses
Roberto Giugliani
9.30 - 10.15 Leukodystrophies
Jutta Gärtner
10.15 - 10.45 Coffee break
10.45 - 11.30 Sphingolipids and Gangliosidoses
Konrad Sandhoff
11.30 - 12.15 Fabry disease
Dominique Germain
12.15 - 13.00 Gaucher disease
Eugen Mengel
13.00 - 14.00 Lunch
14.00 - 16.00 Workshops / Discussion case reports
16.00 - 16.30 Coffee break
16.30 - 17.15 Niemann Pick diseases
Marie T. Vanier
17.15 - 18.00 Pompe disease
Ans van der Ploeg
18.00 - 18.30 Eye manifestations in selected LSDs
Susanne Pitz
19.30 Meet the Expert - Dinner

Friday, 1 June 2018

8.30 - 9.00 Mechanisms of neurodegeneration in LSDs
Kurt Ullrich
9.00 - 9.45 The blood brain barrier and LSDs
David J. Begley
9.45 - 10.15 Coffee break
10.15 - 11.00 Neuronal Ceroid Lipofuscinoses
Alfred Kohlschütter
11.00 - 11.30 Mannosidoses
Julia B. Hennermann
11.30 - 12:00 Acid lipase deficiency
Simon Jones
12.00 - 13.00 Lunch
13.00 - 13.45 Enzyme replacement therapy in LSDs
Anna Tylki-Szymańska
13.45 - 14.30 Stem cell transplantation in LSDs
Rob Wynn
14.30 - 15.00 New treatment options in LSDs
Julia B. Hennermann
  Network afternoon
20.00 Farewell Dinner

Saturday, 2 June 2018

8.30 - 9.00 Prenatal presentation of LSDs
Roseline Froissart
9.00 - 9.30 Radiological presentation of Mucopolysaccharidoses and Mucolipidoses
Esmee Oussoren
9.30 - 10.00 Orthopedic management of LSDs
Bianka Link
10.00 - 10.30 Coffee break
10.30 - 11.30 Genetic principles of LSDs:
A practical session on Mendelian genetics and pedigree analysis
Andreas Gal
11.30 - 12.00 The role of patient support groups
Deborah Cavell
12.00 - 13.20 Presentation of Workshop results
13.20 - 13.30 Summary and Farewell
Julia B. Hennermann
13.30 Lunch-Snack/Departure

Upcoming symposia