sarahkeenihan

Posts Tagged ‘gene’

When history and genes collide

In October 2013 on October 10, 2013 at 10:26 pm

 Sarah Groot Eylandt

Sarah: Most history books tell us that Captain Cook discovered Australia in 1788.

Delve a little deeper, and you’ll find plenty of other snippets of information showing that the Dutch and maybe even the Portuguese explored Northern and Western coasts of our Great Southern Land centuries earlier.

Unfortunately, 16th century Portuguese exploration and sexual activity near or in Australia sealed its influence in a permanent way through embedding itself firmly in the genomes of local people. Machado-Joseph Disease is a neurodegenerative condition passed from generation to generation and most often seen in individuals of Portuguese/Azorean descent, but also found in a few families living in the North of Australia.

Currently on holiday at Groote Eyland, 50km off the Arnham Land Coast in northern Australia, I read about this disease and its presence in this region on an inflight document (Vincent Aviation is a major sponsor of the Machado-Joseph Disease Foundation).

In my head, I have an image of 15th and 16th century Portuguese traders passing through Indonesia and maybe even Australia, and spending enough time with local women to establish a few pregnancies carrying those fatal genes. Further trade and travel within the region spread those genes further and further, and now many hundreds of years later they still crop up.

Individuals with the disease typically experience “slowly progressive clumsiness in the arms and legs, a staggering lurching gait that can be mistaken for drunkenness, difficulty with speech and swallowing, impaired eye movements sometimes accompanied by double vision or bulging eyes, and lower limb spasticity.”

Sadly, it’s just another example of the catostrophic influence that Europeans have had on the course of Aboriginal history and health.

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Sophisticated selection of sheep genes

In October 2013 on October 9, 2013 at 10:36 pm

Sheep backsides

Kirsti:  It’s shearing time in my family.

My parents have a small farm where Dad runs fine wool merinos, and we’re harvesting that cash crop at the moment.  The sheep are raised for wool, not meat, so all the looking and the feeling and the sniffing and the rubbing of the wool made me wonder about the breeding of fine wool merinos in Australia.

And WOAH!  What an interesting history!  I mean, I thought I knew a bit about sheep and breeding and all that stuff, but I will admit that I knew nothing of just how huge this industry is.  And just how much is known about the origin of the Australian merino, right down to the fact that as many as 70% of merinos currently in production are directly descended from one ram called ‘Emperor’, a French Rambouillet breed of sheep that was introduced around the 1860s to create the Peppin strain of Australian merino.

Australian Wool Innovation – a not-for-profit company owned by woolgrowers themselves – vortexed me into some amazing research and development across the fashion, textile and grower industries. So much so that this post is starting to sound a little like an ad for wool!

My interest was piqued by the breeding programs in progress to prevent breech strike, which is when sheep fly larvae (maggots) originating in poo stuck to wool around a sheep’s bum burrow into the sheep’s flesh around their nether regions (yes, this is a terrible affliction, you can wince now).  A commitment by Australian wool growers and researchers to address this can only be described as VITAL. The alternative is mulesing – removing wool producing skin from around their buttocks so that flies have nowhere to lay eggs.

There are genes for breech wrinkle, breech cover and dag (a fancy term for the potential for poo to hang off your bum), and researchers have developed a tool whereby growers can actually select rams that have desirable Australian Sheep Breeding Values for these traits. MERINOSELECT is the culmination of a huge amount of genetic and breeding research, and an example of how I wish we could better use ecological research to improve the state of our planet…..

I digress….

Common, but alone

In October 2013 on October 3, 2013 at 10:08 am

alone

Sarah: Next time you go to an event or venue with lots of people, look around.

Approximately 1 in every 100 people that you see suffers from, or will develop, schizophrenia.

Truth be told, in reality the people that actually do experience this debilitating brain disorder probably stay well away from crowded public places. With disordered thinking, delusions and hallucinations common amongst sufferers, busy bustling places are probably the last place they’d want to hang out.

Despite its relatively high prevalence, schizophrenia remains a difficult disease to diagnose and treat, and approximately 50% of sufferers attempt suicide to escape the manifestations of the disease and its treatment.

Schizophrenia is believed to be a disorder resulting from abnormalities in the ways that nerves and organisational centres in the brain develop and form connections. Although lifestyle and social factors have a role in triggering disease onset, it does have a genetic basis – in other words, it’s in the DNA.

The problem is, we don’t know which bit of DNA is to blame. As a result, current approaches to both diagnosis and clinical management of the disease are non-specific and broad-brush in nature. It’s comparable to treating an ear infection with every known antibiotic. One will probably work, but you’ll also experience a hell of a lot of unwanted side effects.

Naturally, scientists and doctors are constantly on the lookout to identify new genes which might help them better understand and manage schizophrenia. Recently, Adelaide’s Dr Quenten Schwarz sniffed out a lead in this regard. To read more, see my latest Robinson Institute Science Story Exciting new target for schizophrenia diagnosis and treatment.

[image thanks to Photos by Mavis]

Day 73. Owning genes

In October 2012 on October 24, 2012 at 2:01 pm

My friend Heather Bray is a scientist and communicator who never sits still.

This Friday she is running a workshop for the University of Adelaide:  Patenting Human Genes Workshop – ethics, regulation and innovation in biotechnology.   

What does patenting human genes mean? In essence it boils down to ownership of genetic information.

To give a hypothetical example, say I discover that your daughter has an unusual gene which makes her resistant to catching malaria. Should I as the scientist then be able to lay claim to ownership of that genetic information? Do I solely own the knowledge, or does she as well? What about her siblings, and her children in the future – do they own it too? Could I use that genetic information in a private setting to design new drugs which make me rich? Is it different if I release the information and resulting new drugs to the public sector so that millions of lives in sub-Saharan African and Asia are saved every year?

So many important questions to think about, and I think the workshop promises to be a great couple of hours.

The event is free, however bookings are essential. Please register through Eventbrite or contact Dr Heather Bray (heather.bray@adelaide.edu.au). Here’s some relevant extra information from the event flier:

Patenting Human Genes Workshop – ethics, regulation and innovation in biotechnology

Are patents on genes really patents on innovations? What should be patentable? Should organisations ‘own’ exclusive rights to human genetic information? How would researchers attract the investment needed to fund research if the patenting environment were to change? How do we ensure that society continues to benefit from research which may lead to accessible tests and treatments?

These questions and more will be discussed at a small-scale workshop to discuss gene patenting in the Australian context.

Speakers:

  • Dr Robert Chalmers, ARI, University of Adelaide
  • Professor Dianne Nichol, Faculty of Law, University of Tasmania
  • Professor Ian Olver AM, CEO, Cancer Council of Australia
  • Dr Luigi Palombi, Intellectual Property Law Consultant
  • Ms Melissa Parke MP, Federal Member for Fremantle

Facilitator: Associate Professor Rachel Ankeny, University of Adelaide

When: Friday October 26 from 1.30 pm to 5.30 pm (refreshments from 4.45pm)
Where: B03 Seminar Room West, Masonic Lodge, North Terrace

[photo thanks to certified su on flickr]