Video | Business Headlines | Internet | Science | Scientific Ethics | Technology | Search

 


Fighting paediatric disease through research

Fighting paediatric disease through research

A Victoria University of Wellington researcher is one step closer to identifying candidate treatments to delay the onset and progression of a fatal paediatric disease for which no effective therapy currently exists.

Work by Dr Andrew Munkacsi from Victoria’s School of Biological Sciences and Centre for Biodiscovery, in collaboration with Professor Mengjie Zhang from the School of Engineering and Computer Science, and Dr Stephen Sturley from Columbia University, is delivering new knowledge about the rare neurodegenerative disease, Niemann-Pick type C (NPC).

NPC is a monogenic disease caused by a defect in one of two different genes that affects approximately one in 150,000 children worldwide. Those affected are typically born without symptoms, but within a few years exhibit dementia similar to Alzheimer's disease and usually die before reaching adolescence.

Using exome sequencing, a strategy that selectively investigates important sequences of genetic material in all 23,000 human genes, Dr Munkacsi is analysing DNA samples from siblings in Australia, the United Kingdom and United States who have NPC disease to identify underlying disease gene mutation.

“Affected siblings, by inheritance, have the same mutation in the disease gene, but the onset and progression in the cohort we are studying is different. What we hope to do is identify genes associated with disease severity,” says Dr Munkacsi.

Dr Munkacsi has been researching NPC for the past nine years. Through his investigations with Dr Sturley, using a yeast model of NPC disease, they have demonstrated that there are genes other than the disease-causing genes that modify disease severity. This strategy has been successful, and has identified a drug that will be further tested in a human clinical trial in the United States.

They are now going to the next level and conducting the first genome-wide analysis of sibling pairs affected with NPC disease.

“Once we identify which genes regulate the onset and progression of NPC disease, we can work towards targeting those genes with drugs. Our goal is to identify drugs already on the market as the children do not have the time to wait for new drugs to be developed and approved.

“As terrible as Alzheimer’s disease is, at least persons affected live a healthy life for 60 to 80 years. Children affected with NPC disease deserve a chance to live a healthy life,” says Dr Munkacsi.


ends

© Scoop Media

 
 
 
 
 
Business Headlines | Sci-Tech Headlines

 

Genetics: New Heat Tolerant Cow Developed

Hamilton, New Zealand-based Dairy Solutionz Ltd has led an expert genetics team to develop a new dairy cow breed conditioned to thrive in lower elevation tropical climates and achieve high milk production under heat stress. More>>

Fractals: Thousands More Business Cards Needed To Build Giant Sponge

New Zealand is taking part in a global event this weekend to build a Menger Sponge using 15 million business cards but local organisers say they are thousands of business cards short. More>>

Scoop Business: NZ Net Migration Rises To Annual Record In September

New Zealand’s annual net migration rose to a record in September, beating government forecasts, as the inflow was spurred by student arrivals from India and Kiwis returning home from Australia. More>>

ALSO:

Scoop Business: Fletcher To Close Its Christchurch Insulation Plant, Cut 29 Jobs

Fletcher Building, New Zealand’s largest listed company, will close its Christchurch insulation factory, as it consolidates its Tasman Insulations operations in a “highly competitive market”. More>>

ALSO:

Scoop Business: Novartis Adds Nine New Treatments Under Pharmac Deal

Novartis New Zealand, the local unit of the global pharmaceuticals firm, has added nine new treatments in a far-ranging agreement with government drug buying agency, Pharmac. More>>

ALSO:

Crown Accounts: English Wary On Tax Take, Could Threaten Surplus

Finance Minister Bill English is warning the tax take may come in below forecast in the current financial year, as figures released today confirm it was short by nearly $1 billion in the year to June 30 and English warned of the potential impact of slumping receipts from agricultural exports. More>>

ALSO:

Auckland Outage: Power Mostly Restored Overnight

Vector wishes to advise that all but 324 customers have been restored overnight. These customers are spread throughout the network in small pockets. The main St Johns feeder was restored around midnight allowing most of the customers in all affected areas to have power this morning. More>>

ALSO:

Get More From Scoop

 
 
Standards New Zealand

Standards New Zealand

Mosh Social Media
 
More RSS  RSS
 
 
 
 
 
 
 
Sci-Tech
Search Scoop  
 
 
Powered by Vodafone
NZ independent news