Turning off Down's Syndrome genes

SMC Heads-Up: Science literacy, natural medicine examined and Down's breakthrough

Issue 240 19-25 July 2013

Turning off Down's Syndrome genes

US researchers have successfully silenced the extra chromosome responsible for Down's syndrome in cells, opening up potential for treatment of the condition in humans.

The scientists, who published their results in Nature, took cells from people with Down's and were able to silence the extra chromosome 21 responsible for the traits that lead to Down's Syndrome, which causes learning and developmental problems and longterm physical problems too.

Here's how the Guardian described it:

"Lawrence's team used "genome editing", a procedure that allows DNA to be cut and pasted, to drop a gene called XIST into the extra chromosome in cells taken from people with Down's syndrome.

"Once in place, the gene caused a buildup of a version of a molecule called RNA, which coated the extra chromosome and ultimately shut it down."

Scientists stress that a chromosome therapy to prevent Down's syndrome is probably over a decade away, but this is an important step in making it a reality. Next step for the scientists is attempting the gene treatment in mice.

Down's syndrome affects one baby in 1000 born, according to the New Zealand Down Syndrome Association.

Our colleagues at the Science Media Centre in London gathered reaction from UK-based scientists. Professor Neil Brockdorff, Professor of Developmental Epigenetics, University of Oxford, said the discovery shouldn't be heralded as a cure for Down's.

"This is because Down's is a sporadic disorder that affects normal development of several tissues of the foetus. There is no way of knowing in advance which embryos could be affected, and by the time diagnosis has been made, it wouldn't be possible to intervene in a holistic sense, correcting the genetic imbalance in all cells of the foetus or newborn child."

Read more about the study on the SMC website.

Science literacy slips in Australia

An Australian national survey has found that the scientific understanding of young Australian adults has fallen in the last three years -- and experts think technology might be to blame.

How long does it take for the Earth to travel round the Sun? What seems like a straightforward question turned about to be a bit of puzzler more than a third of the young Australians taking part in the Science Literacy in Australia survey.

Only 62% of the respondents aged 18-24 knew the Earth takes one year to orbit the Sun, down from 74% in the same survey in 2010.

The survey, conducted by Auspoll on behalf of the Australian Academy of Science, asked 1500 respondents of all ages several questions of basic scientific fact, including questions such as:

• Did humans live at the same time as dinosaurs? (No; 73% of respondents answered correctly)

• Is evolution currently occurring? (Yes; 70% correct)

• How much of the Earth's surface is covered by water? (70%; 39% correct)

You can review all the questions and results in the Academy's full report, available here.

Australian Academy of Science Secretary for Science Policy, Professor Les Field, expressed concern regarding the results, particularly among the younger groups.

"It's a worrying wake-up call to see scientific literacy declining among young adults, and to a lesser degree among the broader Australian adult population," he said.

Reflecting on the possible reasons for the decline in science literacy among young Australians, Prof Field pointed the finger at technology.

"I think google has a lot answer for in this regard. You can ask a question that somebody else can give you answer to immediately and, to some extent, I think our younger generation use this as an alternative to having a fundamental understanding of the principles that underpin the various things in the world"

Although there has been a drop in the number of young Australians who know the time taken for the Earth to orbit the Sun, they are still doing better than the US. Recent research showing that only 52% Americans know it takes the Earth a year to orbit the Sun.

But how does New Zealand stack up against our trans-Tasman counter-parts? The answer is we don't know - New Zealand lacks a national survey of science literacy among the general public. Maybe it is time to find out?

An AusSMC media briefing featuring Prof Les Field discussing the results of the survey can be watched here.

On the science radar this week...

Spare dino teeth, beavers fighting climate change, new Neptunian moons, urine-powered cell phones and the world's loneliest whale?

Lectures examine natural medicine

Natural health products form the basis of a billion dollar industry in New Zealand, but do they work?

The University of Auckland Winter lecture series is kicking off next week, starting six-weeks of public talks on the series' theme: 'Charms and harms of natural medicines'. Speakers will discuss the rise of the 'natural' medicines industry, and examine concerns over their quality, safety and efficacy.

Series organiser and speaker Associate Professor Jo Barnes, says "Lectures cover the spectrum of interest in natural products in healthcare: from nature's molecular creativity and modern drug discovery from natural resources, to the clinical efficacy and safety of herbal medicines and other natural health products."

The first speaker in the series is Distinguished Professor Margaret Brimble, winner of the 2012 Rutherford Medal. Her lecture, 'Nature's medicine chest: opportunities for drug discovery' will examine the natural origins of conventional medicines and the drug discovery process.

You can read more about the Winter Lecture series and upcoming speakers here.

You can listen back to last year's Winter Lectures, which focussed on disasters and resilience, here.

Quoted: New Zealand Herald

"It's a bit like putting soap on your body before going down a hydroslide,"

Dr Maurice Curtis, University of Auckland, describes the polysialic acid coating on stem cells - a potential target for drug treatments in neurodegenerative disease .

New from the SMC

In the News:

PCE backs 1080: Environment Commissioner Dr Jan Wright is calling for DOC to use more 1080 as pest control.

Flying telescope: A NASA telescope will be scanning the skies above Christchurch for the next few weeks - flying 12km up in the air, mounted in the back of a modified Boeing 747.

Experts Respond:

Ice melt monitoring: More data is needed before satellite monitoring of polar ice sheets can confirm that ice melt is speeding up, say researchers.

Nervy new blogger joins Sciblogs

Sciblogs, Australasia's largest science blog network, welcomes to the fold Dr Christine Jasoni, a senior lecturer in Anatomy at the University of Otago and director of the Otago Neuroscience degree programme.

Christine is blogging as the Nervy Nomad with one of her first pieces looking at the perils of being hungry.

Sciblogs highlights

Some of the highlights from this week's posts:

Are the Aussies getting stupider? - Peter Griffin looks at the latest science literacy data from across the ditch.

Griffins Gadgets

Is fluoridated water a medicine? Ken Perrott is prescribed a dose of pragmatism from the experts as he looks a classic anti-fluoridation argument.

Open Parachute

Being hungry can be risky business - The need for food can drive man - and fruit flies - do some dangerous things, writes neuroscientist and new sciblogger, Dr Christine Jasoni.

The Nervy Nomad

Research highlights

Please note: hyperlinks point, where possible, to the relevant abstract or paper.

iKnife cuts cancer confusion: An "intelligent" surgical knife can sample the smoke produced while cutting away a tumor and tell the surgeon, within seconds, whether she is removing normal or cancerous tissue. The iKnife's first series of human tests on 81 patients found the tool's diagnoses were extremely accurate. Diagnosis takes up to 3 seconds, compared to the 20 or 30 minutes for an in-surgery histology diagnosis, and requires sampling only 0.1 mm3 of tissue. The new study suggests that the tool is reliable enough to begin widespread use in operating rooms.

Science Translational Medicine

The biggest virus ever: The discovery of two new large viruses with genomes to match is set to raise a whole new set of questions in virology. Hence, the name of these newly identified viruses: Pandoraviruses. The first two -- and so far, only -- pandoraviruses discovered come from Chile and Australia. Far larger, both physically and genetically, than any other virus, they add weight to the ongoing argument that viruses are a form of life.

Science

Medical music: Soothing sounds could be just what the doctor ordered, according to new research examining the effects of music in pediatric wards. A small randomised trial found that playing music such as Gustav Holst's the Planets and Enya's Storms in Africa may lessen anxiety experienced by children receiving an IV needle placement. Parents and clinicians' subjective assessments of the procedure also appeared to be improved by music.

JAMA Pediatrics

Curiosity breaths in the Martian air: The Curiosity rover that landed on Mars last August has delivered data that provides a detailed picture of the planet's atmosphere, and its history. Analysis of argon and carbon found in the Martian atmosphere suggest that the planet may have lost a significant portion of its atmosphere early in its history. Ratios of H, C and O indicate CO2 and water reservoirs in the Martian air were established after this period of atmospheric loss, about 4 billion years ago.

Science

'Switching off' an extra chromosome: The third copy of chromosome 21 that causes Down's syndrome can be inactivated in a cell culture model of the disorder, according to new research. The research marks a first step towards 'whole chromosome therapy' for disorders such as Down's, and should aid research into the basic biology underlying these disorders.

Nature

Policy updates

Some of the policy highlights from this week:

Green light on red light cameras: The Ministry of Transport has released a position paper on red light cameras that paves the way for their use at intersections where an evidence-based benefit can be established.

'Legal highs' in legal limbo: The Psychoactive Substances Bill has this week come into force, with interim measures restricting the sale of legal highs while full regulations are developed.

Tunnel plans cancelled: The proposed tunnel project through the Fiordland and Mt Aspiring National Parks, has been declined, Conservation Minister Dr Nick Smith announced this week.

Upcoming sci-tech events

• Einstein's Universe - Lecture and concert - 22 July, Auckland; 23, Wellington; 24,New Plymouth.

• ASPIRE 2025 seminar - Keynote speaker Jonathan Liberman (McCabe Centre for Law and Cancer - 23 July, Wellington.

• Nature's medicine chest: opportunities for drug discovery - 2013 University of Auckland Winter Lecture from Prof Margaret Brimble - 23 July, Auckland.

• Science and Innovation Policy for New Zealand - Public Policy Seminar with Adam Jaffe (Motu) and Fred C. Hecht (Brandeis University) - 24 July, Wellington.

• Preventing Global Non-Communicable Diseases (NCDS) through Low Carbon Development - Lecture from Prof Neil Pearce (London School of Hygiene and Tropical Medicine) - 24 July, Auckland.

• Non-invasive pre-natal testing: from dream to reality - Lecture from Prof Dennis Lo (Chinese University of Hong Kong) - 26 July, Auckland; 24 July, Wellington.

For these and more upcoming events, and more details about them, visit the SMC's Events Calendar.

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