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Lysosomal disorders symposium

Date: Tuesday 19 February 2019

Time: 10.00am – 5.00pm followed by drinks and a BBQ 

Venue: UC Club/Ilam Homestead, 87 Ilam Road, Christchurch 

In collaboration with Lysosomal Diseases New Zealand (LDNZ) and Lincoln University, we are holding a symposium that will bring together world-leading researchers into Lysosomal storage diseases (LSDs). This Christchurch-based event follows on from the 2nd Asia-Pacific Lysosomal Conference, which is being held in Auckland 14-16 February 2019.

LSD's are a group of more than 50 genetically inherited disorders that affect both adults and children. They are characterised by a deficiency of one or more specific lysosomal enzymes. When these degradative enzymes are missing or non-functioning, compounds that should be degraded build up in the lysosomes leading to physical and/or neurological symptoms. These disorders are classified globally as rare. In New Zealand there are about 200 families affected. There is currently no specific cure, but there are a range of treatments available. What is exciting is the broad range of significant and varied research efforts world-wide meaning there have been significant advances in our understanding of these disorders in the last decade, as well as major advances towards new potential treatments. 

This full-day symposium is a chance to hear speakers at the cutting edge of research into these diseases. 

Registration 

Registration is free and we welcome anyone who would like to attend. Lunch, afternoon tea and a BBQ afterwards will be provided. Register for the symposium.

Programme

9.30am - tea and coffee available

10.00am - Welcome by Professor Antony Fairbanks

10.10am - session one. Chaired by Professor Antony Fairbanks

From the perspective of a parent Ra Timms

Membrane lipids and storage compounds regulate lysosomal sphingolipid catabolism and trigger a secondary accumulation of lipids in lysosomal disease Professor Konrad Sandhoff, LIMES Institute, Bonn, Germany. Konrad’s major research area is the analysis and pathobiochemistry of LSD's, and the structure and function of lysosomal proteins. 

Defining the soluble lysosomal proteome Associate Professor David Sleat, Rutgers University, His research focuses on proteomic approached to characterise components of the lysosome. These basic insights into the function of the lysosome and lysosomal proteins has led to the discovery of gene defects in many unsolved human diseases, including Lysosomal Storage Diseases.

11.30am - break

11.50am - session two. Chaired by Dr Nadia Mitchell

LSD’s and their challenges, as illustrated by Gaucher diesease – looking back and forward
Professor Hans Aerts, Leiden University, The Netherlands. Hans’ research centres on biochemical investigations of glycosphingolipids and their metabolising enzymes, to develop biomarkers and improve diagnosis and therapies for inherited lysosomal disorders and other neurodegenerative diseases and metabolic syndromes. 

Carbohydrate-mediated lysosomal protein trafficking, and modifications to improve therapies
Professor Antony Fairbanks, School of Physical and Chemical Sciences and Biomolecular Interaction Centre, University of Canterbury. Antony’s research is focused around carbohydrate chemistry and biology, in particular the synthesis of glycoconjugates and glycomimetics as potential therapeutic agents.

12.50pm - lunch

1.50pm - session three. Chaired by Professor David Palmer

Sheep as a pre-clinical model for human gene therapy
Dr Nadia Mitchell
, University of Otago and Lincoln University, is working on a treatment for Batten disease, a fatal inherited childhood neurodegenerative disorder. She leads preclinical gene therapy trials in two naturally occurring sheep models of the disease.

Novel CRISPR generated ovine model of CLN1 disease 
Dr Samantha Eaton
, The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, UK

2.50pm - break

3.10pm - session four. Chaired by Dr Nadia Mitchell

Intrathecal administration of AAV9: A platform-based gene transfer approach to treat lysosomal storage diseases
Associate Professor Steven Gray, University of Texas Southwestern Medical Centre. His core expertise is in adeno-associated virus (AAV) gene therapy vector engineering and optimising approaches to deliver a gene to the nervous system. He is currently developing novel AAC capsids which can results in wide-spread gene transfer. He is managing a number of pre-clinical studies, as well as a human gene therapy clinical trial for giant axonal neuropathy (GAN).

Neuropathological assessments of animal lysosomal storage disorder therapy trials
Professor Jon Cooper, Department of Pediatrics, Washington University School of Medicine. Jon leads the Pediatric Storage Disorders Laboratory, working mostly on Batten Disease (neuronal ceroid lipofuscinosis), but also other lysosomal storage disorders including mucopolysaccharidoses (MPS).

The relationships between genotypes and phenotypes.
Various speakersThese relationships are proving to be much less determined than was assumed, with consequences for the selection of genotypes for clinical trials and therapies from presymtomatic genetic diagnoses.  Speakers will be invited to give vignettes of their perspectives on this topical issue followed by a round-table discussion.

4.50pm - closing remarks by Professor David Palmer

5.00pm - session five BBQ

If you have any questions, please contact Rebecca Hurrell or Antony Fairbanks