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

 

Scoop Business: RBNZ Keeps OCR At 3.5%, Signals Slower Pace Of Future Hikes

Reserve Bank governor Graeme Wheeler kept the official cash rate at 3.5 percent and signalled he won’t be as aggressive with future rate hikes as previously thought as inflation remains tamer than expected. The kiwi dollar fell to a seven-month low. More>>

ALSO:

Weather: Dry Spells Take Hold In South Island

Many areas in the South Island are tracking towards record dry spells as relatively warm, dry weather that began in mid-August continues... for some South Island places, the current period of fine weather is quite rare. More>>

ALSO:

Scoop Business: Productivity Commission To Look At Housing Land Supply

The Productivity Commission is to expand on its housing affordability report with an investigation into improving land supply and development capacity, particularly in areas with strong population growth. More>>

ALSO:

Forestry: Man Charged After 2013 Death

Levin Police have arrested and charged a man with manslaughter in relation to the death of Lincoln Kidd who was killed during a tree felling operation on 19 December 2013. More>>

ALSO:

Smells Like Justice: Dairy Company Fined Over Odour

Dairy company fined over odour Dairy supply company Open Country Dairy Limited has been convicted and fined more than $35,000 for discharging objectionable odour from its Waharoa factory at the time of last year’s ”spring flush” when milk supply was high. More>>

Scoop Business: Dairy Product Prices Decline To Lowest Since July 2012

Dairy product prices dropped to the lowest level since July 2012 in the latest GlobalDairyTrade auction, led by a slump in rennet casein and butter milk powder. More>>

ALSO:

SOE Results: TVNZ Lifts Annual Profit 25% On Flat Ad Revenue, Quits Igloo

Television New Zealand, the state-owned broadcaster, lifted annual profit 25 percent, ahead of forecast and despite a dip in advertising revenue, while quitting its stake in the pay-TV Igloo joint venture with Sky Network Television. More>>

ALSO:

Get More From Scoop

 
 
Computer Power Plus

Standards New Zealand

Standards New Zealand
 
 
 
 
 
 
 
 
Sci-Tech
Search Scoop  
 
 
Powered by Vodafone
NZ independent news