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Recent Advances in Rare Diseases: Gaucher disease as a model (RARD 2017)

Recent Advances in Rare Diseases: Gaucher disease as a model (RARD 2017)
Final program


Thursday, May 18, 2017


08:45 - 09:00 Welcome and introduction to Moscow (Elena Lukina)
09:00 - 09:45 Opening Lecture “Lysosomes and lysosomal storage disorders” (Bryan Winchester)

Brain and more Gaucher – or what did we learn in the last 10 years
09:45 - 10:15 UPR or not UPR - what is the lesson for Gaucher disease? (Mia Horowitz)
10:15 - 10:45 The role of LIMP2 for the delivery of glucocerebrosidase to lysosomes – why is this of importance for neurologists? (Michael Schwake)
10:45 - 11:15 Coffee break
11:15 - 11:45 Glucocerebrosidase gene – what can we learn for Parkinson’s disease? (Christine Klein)
11:45 - 12:15 GBA-associated Parkinsonism using mouse models (Nahid Tayebi)
12:15 - 12:45 Prodromal pre-motor Parkinsonian features in carriers of Gaucher disease (David Arkadir)
12:45 - 13:45 Lunch
13:45 - 14:15 Glucocerebrosidase chaperones and its significance for the normalization of α-Synuclein in dopaminergic neurons (Ellen Sidransky)
14:15 - 14:45 What are we learning from the neuronopathic type in young Gaucher disease patients (Uma Ramaswami)
14:45 - 15:15 Why do we need better subgroups in Gaucher disease - what about the neurology? (Han-Wook Yoo)
15:15 - 15:45 Management of patients with neuronopathic Gaucher disease (Aya Narita)
15:45 - 16:15 Afternoon review: To biomarker or not to biomarker? (Arndt Rolfs)

Friday, May 19, 2017


Gaucher disease – new therapeutic modalities

08:00 - 08:15 Opening remarks (Ari Zimran)
08:15 - 08:45 The role of Complement activation in glucosylceramide accumulation and tissue inflammation in Gaucher disease (Jörg Koehl)
08:45 - 09:15 Application of oral glucan particle macrophage mediated gene therapy for treatment
of Gaucher disease (Ed Ginns)
09:15 - 09:45 Impaired Dopaminergic Development in an iPSC Model of Gaucher Disease (Ricardo A. Feldman)
09:45 - 10:15 Complexity in Lysosomal Diseases: insights from Niemann-Pick type C (Frances Platt)
10:15 - 10:45 Coffee break

Current therapies

10:45 - 11:15 How to treat newly diagnosed patients with Gaucher disease? (Ari Zimran)
11:15 - 11:45 Iminosugars for the treatment of Gaucher disease (Hans Aerts)
11:45 - 12:15 Co-morbidities and challenging cases in Gaucher disease (Jeff Szer)
12:15 - 12:45 Anti-coagulation in adult thrombocytopenic patients with Gaucher disease (Barry Jacobson)
12:45 - 13:45 Lunch
13:45 - 14:45 Poster session
14:45 - 15:45 Panel discussion: Is there any need for further treatment improvement in the ERT era?
Panelists: Debby Elstein, Jack Goldblatt, Maciej Machaczka, Elena Lukina, Hanna Rosenbaum, Ida Schwartz, Ari Zimran

Saturday, May 20, 2017

Plenary session

08:30 - 08:45 Opening remarks (Maciej Machaczka)
08:45 - 09:15 Newborn screening for lysosomal storage diseases – the special challenge of Gaucher disease (Roberto Giugliani)
09:15 - 09:45 Role of glyocolipids in inflammation and immunity (Yaron Ilan)
09:45 - 10:15 Pregnancies in Gaucher disease patients (Heather Lau)
10:15 - 10:45 Coffee break


Parallel sessions


Session 1: Complement mediated diseases: paroxysmal nocturnal hemoglobinuria (PNH) and aHUS (Chair: Elena Lukina)


10:45 - 11:15 General practice in PNH treatment (Jeff Szer)
11:15 - 11:45 PNH and primary p.Cys89Tyr mutation in CD59: Differences and similarities (Dror Mevorach)
11:45 - 12:15 Genetics and differential diagnostics: TTP and aHUS (Lilian Monteiro)
12:15 - 12:45 Genetics in PNH - data from a global study (Arndt Rolfs)


Session 2: Fabry disease (Chair: Maciej Machaczka)


10:45 - 11:15 Prevention is the best therapy: the geneticist’s approach (Gheona Altarescu)
11:15 - 11:45 X-chromosome inactivation in female patients with Fabry disease (Dominique Germain)
11:45 - 12:15 Kidney and what does it mean for treatment of Fabry´s disease (Christine Kurschat)
12:15 - 12:45 In vitro experimental results for the clinical interpretation in Fabry disease (Jan Lukas)
12:45 - 13:45 Lunch
13:45 - 15:15 Oral presentations of participants
15:15 - 15:45 Poster prizes - Conference summary and closing