Scientific Family Program

Thursday 14th February 2019

1:00–2:00 pm Registration open

Coffee and tea available on arrival

2:00 pm Official Welcome – Powhiri  
2:20 pm Welcome John Forman, LDNZ; David Palmer, Scientific Chair
2:30 pm Key Note Presentation: LSD's and their challenges, as illustrated by Gaucher disease – Looking back and looking forward Hans Aerts, Netherlands
Session 1Lysosomal Biology and Pathophysiology of Lysosomal Storage DiseasesChair: David Palmer, New Zealand
3:00 pm Membrane lipids and storage compounds regulate lysosomal sphingolipid catabolism and trigger a secondary accumulation of lipids in lysosomal disease Konrad Sandhoff, Germany
3:40 pm Lysosomal proteins, proteomics and disease David Sleat, USA
4:10 pm Carbohydrate-mediated lysosomal protein trafficking, and modifications to improve therapies Antony Fairbanks, New Zealand
4:40 pm Identifying therapeutic targets to treat Niemann–Pick type C disease Andrew Munkacsi, New Zealand
5:10 pmClose of Day 
6:30–8:30 pmWelcome Reception 

Day Two 15th February 2019

Session 2Disease Models and Therapy StudiesChair: David Sleat
8:30 am Sheep as a pre-clinical model for human gene therapy Nadia Mitchell, New Zealand
9:00 am Development of prognostic tools for use in children with Sanfilippo syndrome Kim Hemsley, Australia
9:30 am Neuropathological assessments of animal LSD therapy trials Jon Cooper, USA
10:00–10:20 amMorning Break 
Session 2 Disease Models and Therapy StudiesChair: Kim Hemsley
10:20 am Gene therapy for the gangliosidoses - from the bench to the bedside Heather Gray-Edwards, USA
10:50 am Pathogenesis and treatment of skeletal disease in MPS children Sharon Byers, Australia
11:20 am GAG reduction in MPS IV Mireille Tallandier, France
11:40am Gene therapy with haematopoietic stem cells Koji Eto, Japan
12:00–1:00 pmLunch 
1:00–3:00 pmFamily Workshops – Professionals/Industry/others are encouraged to attend a workshop of your interest and share your knowledge with the families, but also get to hear the reality of living with these diseases.
  MPS Chair: Kaustav Bhattacharya, Australia
  Fabry Chair: TBA
  Batten Chair: Heather Adams, USA
  Pompe Chair: TBA
  Sialidosis/Mucolipidosis/MLD/Others Chair: TBA
Session 3Lysosomal diseases in other parts of the worldChair: Hans Aerts
1:00 pm Spectrum of lysosomal storage disorders: 13 years experience from a single tertiary care centre in Kerala Dr Sheela Nampoothiri, India
1:20 pm

Improving the efficacy of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis

Ivanhoe Leung, New Zealand
1:40 pm

Newborn screening for lysosomal storage diseases by tandem mass spectrometry: update in Taiwan’s experience

Yin-Hsiu Chien, Taiwan
2:00 pm TBA TBA
2:20 pm Understanding the role of neurogenetics in translational research of neuronal ceroid lipofuscinoses in Argentina Ines Noher de Halac, Argentina
2:40 pm

A novel therapeutic approach for treatment of CNS manifestations in patients with mucopolysaccharidosis

Kazunori Tanizawa, Japan
3:00–3:20 pmAfternoon Break 
Session 4Existing and Emerging TherapiesChair Nadia Mitchell, New Zealand
3:20 pm

Intrathecal administration of AAV9:  A platform-based gene transfer approach to treat lysosomal storage diseases

Steven Gray, USA
3:50 pm Pathogenesis, enzyme replacement and gene therapies for glycoprotein and glycolipid storage diseases Alessandra d’Azzo, USA
4:20 pm

The challenges of developing therapies for mucopolysaccharide diseases in the 21st century

Brian Bigger, England
4:50 pm Development of pharmacological chaperone therapy for lysosomal storage diseases Katsumi Higaki, Japan
5:20 pm Stem cell gene replacement therapy (GRT) for Fabry disease Mark Thomas, Australia
5:45 pm End of Formal Presentations 
6:00–7:00 pm Poster Viewing Session, evening on your own to network and meet up with friends 

Day Three 16th February 2019

Session 5Access to MedicinesChair: David Palmer
8:00 am New Zealand issues of access to therapies John Forman, New Zealand
8:30 am Carrier testing for couples planning pregnancies Jim McGill, Australia
9:00 am Living with MPS and navigating pain management combining pharmaceuticals with natural remedies and physical therapy Samantha Prior, Australia
9:20 am Cost of treatment and cost of other therapies Steve Maharey, Pharmac NZ
9:40amMorning Break 
Session 6Diagnosis, Clinical Management Care and SupportChair: Jon Cooper, UK
10:00 am Key Note Presentation: Diagnostic advances in lysosomal storage disorders Jim McGill, Australia
10:30 am Longitudinal assessment of children with neurodegenarative disorders: clinical and research applications Heather Adams, USA
10:50am Viewing sialidosis through a different lens Dan Peach, New Zealand
11:00 am Clinical Presentations of lysosomal storage disorders Kaustav Bhattacharya, Australia
11:25 am Realities of living with Morquio syndrome Rachel Lodewyk, New Zealand
  Realities of living with Hunter syndrome Kirsty Taylor, New Zealand
11:40 am Lysosomal diseases: A New Zealand pediatrician's experience Rosie Marks, New Zealand
12:10–1:10 pmLunch 
Session 7 Diagnosis, Clinical Management Care and Support - ContinuesChair Steven Gray, USA
1:10 pm Transition to Adult Health Services – What are the issues in New Zealand TBA
1:30 pm Transition for Paediatrics to Adult Services: The United Kingdom (UK) and Australian models Anita Inwood, Australia
1:50 pm

Newborn bloodspot screening for lysosomal storage disorders

Dianne Webster, New Zealand
2:10 pm Cardiac issues in lysosomal storage diseases TBA
2:30 pm Pain management and palliative care in lysosomal storage diseases Ross Drake, New Zealand
2:50 pmAfternoon Break 
3:10 pm Spinal complications in lysosomal diseases – What are the issues and how to treat Nicole Williams, Australia
3:30 pm Patient registries and their importance: A New Zealand example Richard Roxburgh, New Zealand
3:50 pm Self care: What is it and how can we engage our informal support network and peer supports to promote well-being? Vanessa Ede-Scott, Australia
4:10 pm Wills trusts and enduring powers of attorney – Why do we need to do this Perpetual Trustees
4:30 pm   
5:00 pmClose of Day 
6:30 pm–late Awards Dinner 6.30 for 7 pm to be seated.