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Introducing our new Chief Executive: Gill Greer
18 February 2019
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PHARMAC’s Rare Disorder Subcommittee
13 February 2019
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Media release: Rare Disease Day 2019: Rare is Everywhere
12 February 2019
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Newsletter 2019 #1
11 February 2019
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NZORD advocacy and services
8 January 2019
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Consumer voices review 2018
19 December 2018
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Newsletter 2018 #6
12 December 2018
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Rare disorder researchers’ meeting
10 December 2018
Featured rare disease: Gaucher disease
Gaucher disease, pronounced go-SHAY, is an inherited disease, and people with this condition lack sufficient activity levels of an enzyme called glucocerebrosidase. This enzyme normally helps the body break down worn-out cells and if there is not enough enzyme available then a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the central nervous system. It’s a bit like a recycling or waste disposal system becoming clogged with a fatty residue and not having any detergent to remove it, therefore it causes blockages. These blockages led to a range of symptoms depending on the organ and level of blockage.
Previously featured disesases: