Monday, November 17, 2008

The DNA Network

The DNA Network

Leading genomic researcher discusses his own test results [The Navigator - Navigenics Blog]

Posted: 17 Nov 2008 11:15 PM CST

Michael Nierenberg, M.D.

imageAs we pointed out in our blog a few weeks back, the Scripps Translational Science Institute has launched an ambitious 20-year study on how people respond to genetic test results, using the Navigenics service as a basis for the research.

Upon learning they are at increased genetic risk for conditions such as obesity, diabetes or cancer, do people start to exercise more and eat a little less? Are they more conscientious about going to the doctor at the first sign of trouble? Do they ignore the information entirely, refusing to kick their pack-a-day habit?

Previous smaller studies have found that genetic information holds promising motivational potential. Now, the Scripps study's principal investigator, Dr. Eric J. Topol, plans to follow 10,000 adults to find out more.

He already has one very important set of results in hand—his own.

Free access to special issue on paranormal experience, the brain (and genetics) [Biomarker-driven mental health 2.0]

Posted: 17 Nov 2008 07:48 PM CST


Example of a subject in a Ganzfeld experiment.

Image via Wikipedia

As the great J. B. S. Haldane once quipped, “The universe is not only queerer than we imagine; it is queerer than we can imagine.”  So why not delve into the outer reaches of our inner mental life.  Better yet, its Free and Open, thanks to the special issue of Cortex dedicated to recent studies on “Neuropsychology of Paranormal Experiences and Beliefs“.  Yours truly has a token article that gropes for a genetic basis for brain mechanims involved in belief formation.  Lots of fun.

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Cock-a-doodle-don’t from chicks with quail neural transplants [Biomarker-driven mental health 2.0]

Posted: 17 Nov 2008 05:37 PM CST


California Quail

Image by Len Blumin via Flickr

Am just working up a review on the genetic regulation of the noradrenergic system and stumbled across a collection of papers from ye olde 1980’s. A scientist named Nicole Le Douarin has a series of papers performing a surgical switcheroo of neural tube & neural crest cells from the quail into the chick.  Apparently, the cells survive and differentiate into mature structures and (because the quail cells were distinguishable by Feulgen stain) were a great way to study the effects of “genes vs. environment” on the development of specific cell types. Noradrenergic cells, it turns out can be induced to express cholinergic proteins in response to external cues for example. Interestingly, the chicks born with quail transplants crowed like quail, rather than chicks, demonstrating “the first demonstration of cross-species behavioral transfer brought about by neuronal transplantation.” Balaban et al., Science magazine (1988) vol 241, page 1339.

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High school students win Best New Application Award at 2008 IGEM [Discovering Biology in a Digital World]

Posted: 17 Nov 2008 05:28 PM CST

iGEM is all about synthetic biology, kids. It's the annual International Genetically Engineered Machine competition.

Each team in the IGEM competition has to make something using a kit of biological parts from the Registry of Standard Biological Parts. Teams of students use these parts to design, build, and operate biological systems in living cells.

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Grad School Musical [The Daily Transcript]

Posted: 17 Nov 2008 03:36 PM CST

This was just sent to me by an unnamed source at UCSF:

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Patient Attitudes Toward Genotyping: Willingness to Donate [PredictER Blog]

Posted: 17 Nov 2008 09:07 AM CST

The November 2008 issue of Obstetrics & Gynecology included an article addressing an Indiana University study which sought to ascertain the willingness of women to donate DNA specimens. The article, "Patient Attitudes Toward Genotyping in an Urban Women's Health Clinic" (David M. Haas, Jamie L. Renbarger, Eric M. Meslin, Katherine Drabiak, and David Flockhart), acknowledges the great promise of the emerging fields of genotype association studies and pharmacogenetics, which will theoretically allow for targeted medical interventions, personalized drug therapies and the more efficient allocation of healthcare resources. The study compared women's willingness to donate DNA specimens via blood and saliva collection, and looked at several other factors to confirm the findings of previous studies regarding which of those factors predicate a willingness to donate. The authors found that more women are willing to donate DNA using saliva than blood, and that higher levels of education (college and beyond) and greater knowledge of genes and DNA increase women's willingness to donate.

So how do these findings translate into ethical practice? How will they inform the future collection of samples for both medical and research purposes? It seems that researchers and practitioners should bear in mind that less-invasive methods of DNA procurement are preferred, and that education about purpose and use be stressed during the informed consent process. When asked about the translational implications of this study, Dr. Eric Meslin, co-author and Director of the Indiana University Center for Bioethics, said: "the key to success in any biobanking effort lies in the scientific community's ability to both acquire and maintain the public's trust. Informed consent may be evidence of the public's willingness to permit specimens to be used for research, but consent should never be confused with the public's willingness to trust science to do the right thing." -Amy Lewis Gilbert

Virtual Rehabilitation [Sciencebase Science Blog]

Posted: 17 Nov 2008 07:00 AM CST

I recently wrote about how social media might help scientists do their work, so a paper in IJWBS on how those on the receiving end of medical science - patients and healthcare practitioners - might benefit from web 2.0 caught my eye.

IT specialist and disability consultant Maire Heikkinen of University of Tampere, Finland, has focused on how the internet might be used in rehabilitation courses for sufferers of long-term neurological diseases including Multiple Sclerosis (MS).

Today, more than 2,500,000 people have MS, a disorder that affects different areas of the central nervous system and so leads to a wide range of symptoms from blurred vision and numbness to weak limbs, unsteadiness, and fatigue. Periods of relapse and remission are often characteristics of the disease but for other people the disease progressively worsens. Either way, it can limit everyday life seriously and makes for an uncertain future for sufferers and those close to them. There is no known cure, but rehabilitation can help people considerably.

Getting hold of useful information about one’s disease, discussing problems, and following rehabilitation schemes, is Heikkinen explains an essential part of the process of healing.The rehabilitation for MS patients has traditionally been face-to-face courses and personal physiotherapy, but the internet has enabled some forms of online rehabilitation.

She has looked at the concept of a virtual community for rehabilitation and, in particular, the opportunities for sociability among participants. She found that peer support and the swapping of experiences were the most important part of the online activities. But, perhaps most intriguingly, the MS patients in her study seemed to have a higher trust level among themselves than is common in some online activities. The participants apparently preferred to get to know each other rather than operating anonymously as is common on other internet rehabilitation and support courses, those for cancer sufferers, she cites.

The internet course Heikkinen studied was “Power and Support in the Net”, which was organised by the Finnish MS Society. While there are those who claim that such virtual communities are somehow worth less than face-to-face contacts, others point out that circumstances and ill-health often prevent people from making direct social contact. It is the virtual nature of “online” that seems to offer a significant advantage in a virtual rehabilitation community, in that people are often more willing to discuss problems online than they would be in a face-to-face meeting.

There is evidence that being online is not the depressing default state that those railing against it would have us believe. Heikkinen’s study certainly suggests this is true with regard to outcomes for MS sufferers involved with PSN.

The internet was shown to be a suitable tool for arranging rehabilitation courses for MS sufferers, she says. The course team could build a virtual community at least for the duration of the course, but it will also be possible to continue the team after the course. The course may thus serve as an initiator for a longer-lasting virtual team that will exist for as long as the participants stay active.

Various researchers have outlined the benefits of online community in the past. Virtual communities are inherently social networks because at the base level they link together people, organisations and knowledge. They can become integrated into our daily lives and, as anyone with an active web 2.0 account knows, the internet can increase our contact with friends, relatives, and other contacts regardless of geography, time, or state of health. Fundamentally, adds Heikkinen, “When computer systems connect people and organisations, they form social networks.”

Maire Heikkinen (2009). Power and support from the net: usability and sociability on an internet-based rehabilitation course for people with multiple sclerosis Int. J. Web Based Communities, 5 (1), 83-104

Virtual Rehabilitation

Francis Agrees with the Kid! [The Gene Sherpa: Personalized Medicine and You]

Posted: 17 Nov 2008 06:17 AM CST

First, Hat Tip to Mr Weber, a longtime reader of my blog. Thanks to him for bringing this to my attention. Do you remember how I said that genetic counselors lack the clinical training to integrate...

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Why You Shouldn’t Worry about Getting Results [Bitesize Bio]

Posted: 17 Nov 2008 04:43 AM CST

Everyone is worried about getting results, aren’t they? Results are what you need for success in science - they are essential for bringing the funding in.

But focusing on results per se is not a good way to work because, as a scientist, you can’t “get” results. You can’t “make” them happen.

Essentially in every experiment you are asking a question of a biological system, and the answer, the result, you obtain will depend on the biological system itself as much as your skill as a scientist.
If whatever you are asking of the system fundamentally does not work or can’t happen, then there is no way you can “get” the result, no matter what you do.

So a better way to work is to focus on how you ask the question.

Your job as a scientist is to ensure that you are asking the question in the right way with a properly researched, well designed and carefully executed experiment. So if you don’t get the result you are looking for then you just have to think about how you asked the question.

Could you have done something better?
Could you have designed the experiment differently?
Is there something you are missing?

If the question can be asked in a better way then a new experiment should be performed and the cycle repeated until you are convinced that the experiment is watertight.

At that point, if you are focused on how you ask the question rather than getting a result, it is a lot easier to accept the negative result while giving yourself credit for the good work you have done and move onto the next question with your confidence, sanity and faith in your scientific method in tact.

And that’s more likely to bring you results in the long run.

Genetic Genealogist deconstructs ASHG criticisms of ancestry testing [Genetic Future]

Posted: 15 Nov 2008 08:41 AM CST

Blaine Bettinger at the Genetic Genealogist has an extensive and thoughtful critique of the American Society of Human Genetics' recently released statement on genetic ancestry testing (pdf). (You can read about the Society's statement at GenomeWeb News and Science Now; 23andMe also comments from the point of view of a company engaged in ancestry testing.)

If you have comments on the issues surrounding genetic ancestry testing I'd encourage you to add them to Blaine's post.

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