Agenda & Speaker

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Agenda

Thursday, May 3, 2018
8:45 - 9:00 Welcome and introduction to Delhi IC Verma
9:00 - 9:45 Opening Lecture A Rolfs

Plenary Session

09:45 – 10:30 Lysosomes and lysosomal storage disorders B Winchester
10:30 – 11:15 Chaperones and the normalization of α-synuclein E Sidransky
11:15 – 12:00 In vivo gene therapy for (GD and) neurodegenerative disorders A Abeliovitch
12:00 – 13:00 LUNCH
13:00 – 13:30 Gaucher in Asia – an example for unmet needs in rare diseases H Kim
13:30 – 14:00 Therapy of Gaucher disease in Pakistan H Cheema
14:00 – 14:30 Management of Gaucher disease – lessons from large cohorts S Revel Vilk
14:30 – 15:00 COFFEE BREAK
15:00 – 15:30 Modern models for Gaucher disease – what can we learn? M Horowitz
15:30 – 16:00 iPS cells in Gaucher – a new chapter in an old story R Feldman
Friday, May 4, 2018

Genomics in hereditary metabolic disorders - Basic science impacts clinical decisions (Part 1)

08:30 – 09:15 Metabolic disorder screening by mass spectrometry - what are we learning G La Marca
09:15 – 10:00 LSD screening: mass spectrometry is the future C Cozma
10:00 – 10:45 Genetics and differential diagnostics in aHUS L Monteiro
10:45 – 11:15 COFFEE BREAK

Genomics in hereditary metabolic disorders - Basic science impacts clinical decisions (Part 2)

11:15 – 12:00 Diagnosing rare diseases in children – Gaucher as a model D Elstein
12:00 – 12:45 Strategies for screening in hereditary disorders P Bauer
12:45 – 13:45 LUNCH
13:45 – 14:30 Genomic medicine in hereditary angioedema revisited J Pesquero
14:30 – 15:15 New directions in Gaucher disease O Goker-Alpan

Poster session

15:15 - 16:30 Poster presentations (Part 1)
Saturday, May 5, 2018

Plenary Session

08:30 – 09:00 Opening remarks: News in treatment of MPS U Ramaswami
09:00 – 09:30 How to treat newly diagnosed patients with Gaucher disease? A Zimran
09:30 – 10:00 Gene therapy in Sanfilippo syndrome – 4 years results JM Heard
10:00 – 10:30 COFFEE BREAK
10:30 – 11:00 Human gene therapy trials in Fabry disease N Kreher
11:00 – 11:30 Experience of use of Genistein in MPS III A Jalan
11:30 – 12:00 Treatment opportunities in patients with metabolic myopathies J Vissing
12:00 – 13:00 LUNCH

Parallel Sessions

Session 1. Paroxysmal nocturnal hemoglobinuria (PNH) - Chair: E Lukina

13:00 – 13:30 General practice in PNH treatment J Szer
13:30 – 14:00 Renal manifestations in PNH KV Dakshinamurty
14:00 – 14:30 Patient cases with PNH

Session 2. Fabry disease – Chair: M Machaczka

13:00 – 13:30 Kidney and the relevance for Fabry ́s disease C Kurschat
13:30 – 14:00 How go diagnose in nowadays Fabry´s disease D Germain
14:00 – 14:30 Patient cases with Fabry

Session 3. Niemann Pick type C disease – Chair: IC Verma

13:00 – 13:30 Late onset manifestation in NPC M Patterson
13:30 – 14:00 iPS cells - a functional model in NPC J Lukas
14:00 – 14:30 Patient cases with NPC

Session 4. alpha-Mannosidosis - Chair: P Bauer

13:00 – 13:30 DBS technology for early detection of alpha-mannosidosis deficiency C Cozma
13:30 – 14:00 Experimental therapeutics in animal models of LSDs R D'Hooge
14:00 – 14:30 Treatment with ERT in alpha-mannosidosis M Ljungberg
14:30 – 15:00 COFFEE BREAK

Poster session

15:00 – 16:30 Poster presentations (part 2)
16:30 – 17:00 Conference summary and closing
19:30 – 22:30 Networking Dinner with Poster Prize Awards

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Conference organisation, Abstract management and Sponsorship

Anke Schneider  rard2018(at)med.uni-rostock(dot)de

Hotel accommodation, Visa and Airport transfer

Irina Ovcharenko  india.may2018(at)gmail(dot)com