Posts Tagged genomics

Molecular biology in museums Grant Jacobs Mar 09

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The past fifty years has seen the rise of molecular biology. Many museums have little to represent molecular biology and it’s impact on medicine, perhaps because the objects studied in molecular biology are usually visualised indirectly, whereas museum visitors traditionally go to view objects with their own eyes.

While on blogcation,1 biologist-artist Jessica Palmer continues to write posts to her blog, bioemphemera.

canterbury-museum-350px

Canterbury Museum, Christchurch, New Zealand. Note the early power poles. (Source: wikipedia.)

Recently she pointed out a conference on presenting modern modern science in museums, quoting from the call to contributions. It’s a lengthy “call”—almost a treatise!—so I will present only the initial portion (interested readers should read read the full account):

The 15th biannual conference of the European Association of Museums for the History of Medical Sciences (EAMHMS) will be held at the University of Copenhagen, 16–18 September, 2010.

This year’s conference focuses on the challenge to museums posed by contemporary developments in medical science and technology.

The image of medicine that emerges from most museum galleries and exhibitions is still dominated by pre-modern and modern understandings of an anatomical and physiological body, and by the diagnostic and therapeutical methods and instruments used to intervene with the body at the ‘molar’ and tangible level — limbs, organs, tissues, etc.

The rapid transition in the medical and health sciences and technologies over the last 50 years — towards a molecular understanding of human body in health and disease and the rise of a host of molecular and digital technologies for investigating and intervening with the body — is still largely absent in museum collections and exhibitions.

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Tracking disease and human migration through genetics Grant Jacobs Feb 16

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A recent article on the internet and several research papers are reminder of the power of modern genetic and bioinformatic analysis to reveal insights to the history of human disease and human migrations.

(Source: wikipedia)

(Source: wikipedia)

Ian York, who writes Mystery Rays From Outer Space, has recently posted a very interesting article Leprosy and the Silk Road. His article pulls together the results of three new reports, in Science, Nature and Nature Genetics. (You’ll need to be a subscriber to access the full articles.)

Please read Ian’s article for the full details: I’m only going to talk about one aspect here, and briefly at that. The genome of microbe that causes leprosy, Mycobacterium leprae, this microbe has been sequenced and compared with isolates of this disease-causing “bug” taken from different parts of the world revealing the path the leprosy has taken across the planet over thousands of years. Ian’s article has the details, but in broad terms leprosy originated in East Africa and spread east via the Silk Road, independently west into Europe and later to the Americas via European migration.

What intrigues me is how this and many other studies are pulling together the story of human migrations and how we lived in exquisite detail.

Some information relates to disease, such as the work Ian reports, showing the emergence and spread of disease along with migration or colonisation.

(Source: wikipedia, data originally from mitomap)

(Source: wikipedia, data originally from mitomap; numbers are thousands of years before present time. High-resolution version available at wikipedia.)

There are studies comparing languages to track the migration of people, including one from a New Zealand research group examining migration across the Pacific.

Other studies link specific traits with parts of the world or agricultural practices. People who are tolerant of lactose as adults (e.g. able to drink milk as adults) have particular genetic “markers” associated with that trait. However, the genetic markers are different in different places. For example, it has been shown, that lactose tolerance in North Africa is associated with a different genetic change than is seen in lactose tolerant people in Europe, suggesting that lactose tolerance in adults arose independently in North Africa to Europe, possibly as a result of use of camel milk as opposed to cow milk and a lack of mixing between European and North African people.

What strikes me is how all these many different studies—I’ve only given a tiny sample here—are converging to create a very detailed picture of our past. What group of people went where. What kind of food were they eating. What diseases did they take with them. (Similar studies can reveal the “movements” of crop plants or animals, too.)

Genetics, accompanied by bioinformatics (used to analyse the genetic data), is adding a lot of new elements to this ever more intricate picture.

Besides the more formal studies, there are also “genetic genealogy” services, such as those offered by Genetic Genealogy or Roots For Real, who offer to take a DNA sample (usually a cheek swab), screen your DNA for a “markers” that which, when compared with those collected elsewhere in the world, can be indicative—in broad terms—of the ancestral groups you came from.

These articles also appeal as I’ve travelled a little myself, including portions of the Silk Road, visiting Bukhara, Khiva and so on. It puts another layer on my travels. I can image not just the people migrating but also the microbial “baggage” they took with them.

Footnote (added 17-Feb-2010):

Those interested in more information about leprosy today may wish to check out the website of LEPRA an UK-based organisation devoted to assisting leprosy sufferers. They have an on-line copy of their magazine. (Click on the magazine to see it in full-screen mode. There are PDF copies available to download.)


Other posts that might interest you in Code for Life:

Map shows New Zealand with lowest death rate on earth in 1856, over 11 in 1000 dying

Rubella, not a benign disease if experienced during early pregnancy

Deleting a gene can turn an ovary into a testis in adult mammals

Developing bioinformatics methods: by who and how

Explore ancient science books on-line

Monday potpourri: maps, malaria in the USA, cholera in Dunedin and vaccines

Genetic tests and personalised medicine

Blogimmuniqué Grant Jacobs Jan 11

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A blog communiqué.

Rummaging around for a handy term for a short news post about a blog itself, I’ve settled for blogimmuniqé, a blog communiqué.

Google yields not a single hit on this “word,” so perhaps I get to be the first to coin it? (And probably the only to use it!)

Source alexcartoon.com

(Source: alexcartoon.com)

I’m just letting readers that there will be a slight shift for the next couple of weeks, not that my blog has been terribly consistent anyway. (Something that bothers me, as I’d prefer to have a consistent target really.)

I’d welcome and encourage comments on these ideas.

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Next Generation Sequencing workshop Grant Jacobs Dec 15

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Otago University’s sequencing facility will be hosting a two-day workshop, The Researchers Guide to Next Generation Sequencing, February 11-12th 2010. Places are limited to 20 and cost only $NZ100. Applications close 7th January. Be in quick!

More details about how to apply for the workshop on their website or their flyer (below). The flyer may take a short while to load. Move the slider bar to see the lower portion of the flyer. (If it does not download from SlideShare, you can get it from University of Otago website.)


Disclosure: Grant Jacobs does not work with the University of Otago NGS group that is hosting this meeting, but offers computational biology / bioinformatics research and support.

Computational biology: Natural history v. explanatory models Grant Jacobs Nov 26

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Models, not just stamp collecting and managing datasets.

It feels good close to the 150th anniversary of the publishing of On the origin of species to note a thread running in some posts that reflects something close to my heart.

A key thing about Darwin’s work and other major achievements in science are that they present models of how something worked, frameworks in which observations could be placed.

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Genetic tests and personalised medicine, some science communication issues Grant Jacobs Nov 24

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Following on my initial post on Genetic tests and personalised medicine, I’d like to offer some loose thoughts on science communication issues associated with genetic tests.

Ibn Sina (Avicenna) whose Canon of Medicine (1025) is one of the earliest examples of communication of disease risk. Image source: wikipedia

Ibn Sina (Avicenna) whose Canon of Medicine (1025) is one of the earliest examples of communication of disease risk. Image source: wikipedia (Statue in Dushanbe, Tajikistan)

When I think of genomes, genetic tests and medicine three obvious communication problems occur to me:

  1. A preference for “black and white” answers by the public, compared to the probabilistic answers genetic tests give.
  2. Generally, the more common the disease, the harder it is to resolve the genetic elements of the disease. This is the opposite of everyday experience, where familiar things are easier. Without understanding this people are likely to wonder why common diseases are not being addressed in the tests.
  3. I have a concern that better controls on claims made for “alternative remedies” are needed, especially as direct-to-consumer (DTC) genetic testing potentially enables people to bypass sound medical advice entirely. While this perhaps is more a government issue, the media will need to play their part.

A fourth might be for media to treat any data they receive ethically, but that’s in another category entirely (!) and let’s leave that aside.

Let’s briefly look at each in turn.

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Genetic tests and personalised medicine Grant Jacobs Nov 20

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How will genomes and direct-to-consumer (DTC) genetic tests affect medicine?

the_doctor_luke_fildes_lowres

The Doctor, Luke Fildes (source: wikipedia)

Recently I wrote about an up-coming roundtable meeting to be held in Wellington looking at aspects of genomics, medicine and law. Over the next few days I will direct a few posts at the subject matter of this meeting.

A visit to the GP, redux

You head off to the GP. They hear your complaints, ask some questions, carry out a few tests. You are offered the remedy that works best for most people.

But is it the best remedy for you?

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Meeting—Genomics, medicine and law Grant Jacobs Nov 16

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Genomics technologies including genetic screening, disease diagnosis and so-called “genomic” or “personalised” medicine, raise legal and moral rights concerns with the public.

In a later post I hope to briefly examine some of the key issues from the point of view of the science, but here I would like to draw attention to a local roundtable-style meeting occurring in the very near future.

On Tuesday week (November 24th), the 2nd Australia-New Zealand Roundtable on Genomics ‘Producing and Using Genomic Knowledge for Health’ will be held at Lecture Theatre 1, Rutherford House, 23 Lambton Quay Wellington CBD from 8:30am – 4pm.

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