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
4:40pmAdvances in gene therapy offer hope for patients with lysosomal storage diseasesFernanda Copeland, USA
4:45 pm Identifying therapeutic targets to treat Niemann–Pick type C disease Andrew Munkacsi, New Zealand
5:20 pmNeuropathological assessments of Animal LSD Therapy TrialsJohn Cooper, USA
6:00 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 amNovel CRISPR generated ovine model of CLN1 diseaseSamantha Eaton, Scotland
9:15 amDevelopment of prognostic tools for use in children with Sanfilippo syndromeKim Hemsley, Australia
9:45 amGeneration of CRISPR/Cas9 genome edited sheep embryos in preparation to create an ovine CLN7 Batten disease research flock – and LSDs in large animals including cattle with Niemann–Pick diseaseImke Tammen, Australia
9:00 am Development of prognostic tools for use in children with Sanfilippo syndrome Kim Hemsley, Australia
10:00–10:15 amMorning Break 
Session 2 Disease Models and Therapy StudiesChair: Kim Hemsley
10:15 am Gene therapy for the gangliosidoses - from the bench to the bedside Heather Gray-Edwards, USA
10:4 0am

Therapeutic efficacy studies of a bicistronic AAV9-Hexa/b vector delivered systemically or to CSF in Sandhoff mice

Miguel Sena Esteves, USA
10:50 am Pathogenesis and treatment of skeletal disease in MPS children Sharon Byers, Australia
11:20 am GAG reduction in MPS IV via Zoom Conferencing Mireille Tallandier, France
11:40 am The development of analytical reagents and standards to aid in the diagnosis of and monitoring treatment of Morquio A syndrome (MPS IVA)Phillip Rendle, New Zealand
11:50 amHeparan sulphate and lipid analysis of lung tissue and alveolar surfactant in the mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome) mouseTamara Padet, Australia
12:00 pmPulmonary surfactant activity is reduced in  ucopolysaccharidosis IIIA miceSandra Orgeig, Australia
12:10 pmThe mucopolysaccharidosis (MPS) IIIA mouse demonstrates increased airways resistanceEmma Parkinson-Lawrence, Australia
12:20 pm

Evaluation of a novel substrate reduction therapy for Sanfilippo syndrome

Adeline Lau, Australia
12:30–1:30 pmLunch 
Session 3Lysosomal diseases in other parts of the worldChair: Hans Aerts
1:30 pm Spectrum of lysosomal storage disorders: 13 years experience from a single tertiary care centre in Kerala Dr Sheela Nampoothiri, India
1:50 pm Improving the efficacy of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis Ivanhoe Leung, New Zealand
2:20 pm Newborn screening for lysosomal storage diseases by tandem mass spectrometry: update in Taiwan’s experience Yin-Hsiu Chien, Taiwan
2:40 pm Rare metabolic and inherited diseases in Māori and Pacifica Peter Shepherd, New Zealand
3:00 pm Understanding the role of neurogenetics in translational research of neuronal ceroid lipofuscinoses in Argentina Ines Noher de Halac, Argentina
3:20 pm A novel therapeutic approach for treatment of CNS manifestations in patients with mucopolysaccharidosis Kazunori Tanizawa, Japan
3:45–4:00 pmAfternoon Break 
Session 4Existing and Emerging TherapiesChair Nadia Mitchell, New Zealand
4:00 pm Intrathecal administration of AAV9:  A platform-based gene transfer approach to treat lysosomal storage diseases Steven Gray, USA
4:30 pm Pathogenesis, enzyme replacement and gene therapies for glycoprotein and glycolipid storage diseases Alessandra d’Azzo, USA
5:00 pm The challenges of developing therapies for mucopolysaccharide diseases in the 21st century Brian Bigger, England
5:30 pm Development of pharmacological chaperone therapy for lysosomal storage diseases Katsumi Higaki, Japan
6:30 pm Stem cell gene replacement therapy (GRT) for Fabry disease Mark Thomas, Australia
 Evening on your own 

Day Three 16th February 2019

Session 5Access to MedicinesChair: David Palmer
8:00 am   Carrier testing for couples planning pregnanciesJim McGill, Australia
8:30 am Living with MPS and navigating pain management combining pharmaceuticals with natural remedies and physical therapySamantha Prior, Australia
8:50 am New Zealand issues of Access to TherapiesJohn Forman, New Zealand
9:10 am PHARMAC’s work on funding rare disease treatments and applying equity to funding decisions Steve Maharey, Pharmac NZ
9:40 amMorning 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 Haematopoietic stem cell transplantation in lysosomal storage disorders Kaustav Bhattacharya, Australia
11:25 am Realities of living with Batten disease – A parent's perspective Ra Timms, New Zealand
  Realities of living with Hunter syndrome Kirsty Taylor, New Zealand
11:40 am Lysosomal diseases: A New Zealand pediatrician's experience Rosemary Marks, New Zealand
12:10–1:10 pmLunch 
Session 7 Diagnosis, Clinical Management Care and Support - ContinuesChair Steven Gray, USA
1:10 pm Spinal Complications in Lysosomal Diseases - What are the issues and how to treatNicole Williams, Australia
1:30 pm Transition for Pediatrics to Adult Services: The United Kingdom (UK) and Australian models Anita Inwood, Australia
1:50 pm Newborn blood spot screening for lysosomal storage disorders Dianne Webster, New Zealand
2:10 pm Cardiac issues in lysosomal storage diseases Bryony Ryder, New Zealand
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 Craig Roebuck Perpetual Trustees
5:00 pmClose of Day 
6:30 pm–late Awards Dinner 6.30 for 7 pm to be seated.