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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: Autophagy in metabolic disorders Y Ohsumi

Plenary Session

09:45 – 10:30 Lysosomes and lysosomal storage disorders B Winchester
10:30 – 11:15 Chaperones and its importance for the normalization of α-Synuclein E Sidransky
11:15 – 12:00 The critical importance of lifelong monitoring in LSD patients A Rolfs
12:00 – 13:30 LUNCH
13:30 – 14:00 Parkinson’s disease pathogenesis – what can we learn from new animal models P Brundin
14:00 – 14:30 Modern models for Gaucher disease – what can we learn? M Horowitz
14:30 – 15:00 Glucocerebrosidase gene and Parkinson’s disease CH Adler
15:00 – 15:30 The metabolism of glucocerebrosides Y Nagi
15:30 – 16:00 COFFEE BREAK
16:00 – 17:30 Panel discussion: translational research in hereditary metabolic disorders Chair: A Zimran
Friday, May 4, 2018

Tandem MS/MS in hereditary metabolic disorders - Basic science impacts clinical decisions (Part 1)

08:30 – 09:15 Metabolic disorder screening by mass spectrometry - future perspectives G La Marca
09:15 – 10:00 Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method C Cozma
10:00 – 10:45 Newborn screening: an ethical and policy analysis LF Ross
10:45 – 11:15 COFFEE BREAK

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

11:15 – 12:00 Clinical genome sequencing – is it ready for screening strategies? CF Wright
12:00 – 12:45 Strategies for clinical implementation of screening for hereditary disorders A Bertoli-Avella
12:45 – 13:30 Genomic medicine in hereditary angioedema revisited M Speletas
13:30 – 15:00 LUNCH
15:00 – 18:00 Poster session (Part 1)

Poster session

15:00 - 18:00 Poster session (Part 1)
Saturday, May 5, 2018

Plenary Session

08:00 – 08:30 Opening remarks – news in treatment of hereditary disorders R Giugliani
08:30 – 09:00 How to treat newly diagnosed patients with Gaucher disease? A Zimran
09:00 – 09:30 Iminosugars for the treatment of Gaucher disease D Elstein
09:30 – 10:00 Gene therapy in mucopolysaccharidosis JM Heard
10:00 – 10:30 Genome editing in hereditary metabolic disorders – are we already in the clinic J Schneller
10:30 – 11:00 News in Fabry disease treatment in children U Ramaswami
11:00 – 11:30 COFFEE BREAK

Parallel Sessions

Session 1. Paroxysmal nocturnal hemoglobinuria (PNH) - Chair: A Jalan

11:30 – 12:00 General practice in PNH treatment Je Szer
12:00 – 12:30 Immunological aspects in PNH treatment R Notaro
12:30 – 13:00 Renal manifestations in PNH KV Dakshinamurty

Session 2. aHUS – Chair: E Lukina

11:30 – 12:00 Genetics and differential diagnostics in aHUS L Monteiro
12:00 – 12:30 Genetics of immune-mediated glomerular diseases G Remuzzi
12:30 – 13:00 Treatment recommendations in aHUS MJ Soler

Session 3. Pompe disease – Chair: U Ramaswami

11:30 – 12:00 Treatment opportunities in patients with metabolic myopathies J Vissing
12:00 – 12:30 Genetics of paediatric cardiomyopathies SM Ware
12:30 – 13:00 The emerging phenotype of late-onset Pompe disease AT van der Ploeg

Session 4. Fabry disease – Chair: M Machaczka

11:30 – 12:00 Kidney and the relevance for Fabry ́s disease C Kurschat
12:00 – 12:30 How to diagnose Fabry’s disease nowadays D Germain
12:30 – 13:00 Why is the brain so important in Fabry disease? n.n.

Session 5. Hypophosphatasia (HPP) – Chair: R Giugliani

11:30 – 12:00 Pathophysiology of infantile hypophosphatasia M. Díaz-Hernández
12:00 – 12.30 Safety and efficacy of treatment in patients with hereditary hypophosphatasia K Ozono
12:30 – 13.00 Genetics in hypophosphatasia A Jalan

Session 6. Niemann Pick type C disease (NPC) – Chair: IC Verma

11:30 – 12:00 Late onset manifestation in NPC M Patterson
12:00 – 12.30 Treatment options in NPC JL Poveda
12:30 – 13.00 Innovative pharmacological screenings in NPC J Lukas

Session 7: TTR in clinical practice – Chair: A Rolfs

11:30 – 12:00 Classical manifestation and treatment options in TTR H Schmidt
12:00 – 12:30 Epidemiology in TTR – why do we miss our patients Y Parman
12:30 – 13:00 Genetics in TTR L Obici

Session 8: alpha-Mannosidosis – Chair: P Guatibonza Moreno

11:30 – 12:00 Pathophysiology in alpha-mannosidosis D Malm
12:00 – 12:30 DBS technology to improve early identification of alpha-mannosidosis A Rolfs
12:30 – 13.00 Treatment of alpha-mannosidosis R D’Hooge
13:00 – 14:30 LUNCH

Poster session

14:30 – 16:30 Poster session (part 2)
16:30 – 17:00 Poster Prizes – Conference summary and closing

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