Sunday, July 6, 2008

The DNA Network

The DNA Network

"I didn't even know an adult could give stem cells." [Mary Meets Dolly]

Posted: 06 Jul 2008 02:11 PM CDT


That is a quote from Rachel Wright who gave a stem cell transplant to her mother who had a rare form of cancer called mantle-cell lymphoma. Rachel's stem cells allowed her mother another three years of life. Now, according to the Yakima Herald, Rachel Wright is on a crusade to educate people about adult stem cells:
Now she's on a mission to share her mother's story and educate people about the promising role of stem cells in the war on cancer. The topic is often inflamed by debate over the ethics of using cells derived from 5- to 6-day-old embryos. Stem cells from adults are often misunderstood, said Wright. "I didn't even know an adult could give stem cells."

"But stem cells aren't this big scary thing," she said.

Unfortunately, Mary Wright has passed, but her family is continuing the fight:

For Rachel, her brother Jonathan, who is a Seattle urologist, and their father, retired Yakima lawyer Larry Wright, it's important to keep building. They've set up the Mary Wright Memorial Fund at the Seattle Cancer Care Alliance. The Web site is www.marywrightmemorial.com.

A middle-out web services infrastructure for systems biology [business|bytes|genes|molecules]

Posted: 06 Jul 2008 12:05 PM CDT

Institute for Systems Biology as viewed from L...Image via WikipediaOne of the thoughts I’ve always had over the years in life science software was the need to adjust to constantly changing needs and technologies. In the world of “omics” software, where the technologies generating the data, as well as the data types keep evolving, it gets pretty darn complicated to build solid software projects. So, a paper on Systems biology driven software design for the research enterprise naturally caught my interest. The paper, from John Boyle et al discusses the informatics infrastructure being developed at the Institute for Systems Biology. What struck me as I was going through the first part was that there was no mention of RESTful architectures, at least explicitly, which was somewhat of a disappointment.

The architecture they use is a Service Oriented Architecture, pretty much an essential in such systems. There are other examples of service-based systems in informatics, e.g. CARMEN and, as I recently found out, EColiHub. Both I3 (the ISB system) and CARMEN use SOAP-based web services. EColiHub uses REST (not sure if that’s in production yet), so you know which one I am biased towards. It should be noted that in a lot os such systems Taverna and BioMoby are being used or on the cards, so there is a definite move towards a “lets not reinvent the wheel” mindset, a very good thing. In addition to these, there are workflow systems, like Pipeline Pilot, that are ideally suited to developing and deploying service oriented architectures (also usually SOAP based)

The paper definitely highlights many of the challenges that any such system needs to address. It’s a constant challenge, especially when a lot of the underlying scientific methods and technologies are not at the same level of robustness. In a research environment, you can’t really lock down best practices either, i.e. there needs to be flexibility to explore, and allow people to do things their way. The philosophy is seems to be, as is the preference these days in focusing on the middle layer, and allowing people to develop their tools and methods and providing them a common integration environment. Now here’s the part I like. The authors have chosen to use a LSID based system, and it’s pretty easy to see the system being used as a Semantic Web platform.

I am no guru on architecture, and this is a somewhat formal paper, so I won’t necessarily go there. The key aspect for me is seeing a trend, even in academia to at least think about formal software development and think about developing architectures and deployment environments that can evolve and be maintained over a period of time. On the other hand, there is the danger of making things too formal and resource heavy. Is this how I might have done it? Given that the architecture is stateless, I still wish it had been developed under a resource oriented architecture. While I do like workflows, in an academic setting, I am not convinced that they are the right paradigm, and I am not sure they should go there in the future.

The take home message is one that there is a place for deployment frameworks even in a research setting, and for using good, pragmatic software development practices. Matt Wood could probably give you a long lecture on the latter.

How do you think software resources in research settings should be made available?

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My Dream Job [ScienceRoll]

Posted: 06 Jul 2008 01:07 AM CDT


I’m a featured blogger now on blog.hu because of my Hungarian medical blog and I got an interesting question about which famous blogger I would like to wake up as tomorrow morning. It made me think for a while.

I’ve always wanted to become a researcher specialized in human genetics, that’s why I study genetics at the school of medicine of Debrecen. But as a blogger, I realized how innovative and fast online projects can be and how important e-health is.

My dream job would be a job where my only task is to inspire others with my vision and ideas while travelling through the world; and to understand more and more things that can have global effect.

Robert Scoble seems to be the best example right now.

Regarding the medical field, Alex Jadad has such a job:

Dr. Jadad initiated a new effort, known as the Global eHealth and eWellness Network Initiative (GENI, pronounced as 'genie'), which seeks to explore innovative ways to promote optimal levels of health and wellbeing through the use of ICTs. Areas of interest include technologically-assisted vital environments, social networks and virtual supportive communities, new modalities of tele-work and tele-mentoring, robotic applications to improve quality of life and innovations in entertainment… Dr. Jadad currently advises the World Health Organization as a member of its Global Observatory for eHealth's Strategic Advisory Group of Experts (SAGE) .

He is also the leader of the Centre for Global eHealth Innovation.

So I will graduate from medical school before September, 2009; then I plan to start PhD training in genetics but will also work on my blog and the projects I have recently launched. Until then, I will attend conferences focusing on the future of medicine:

  • 20th International Conference of the Society for Medical Innovation and Technology (Vienna, Austria; August 28-30): Oral presentation
  • Medicine 2.0 Congress (Toronto, Canada, September 4-5): Oral presentation and Medical Bloggers’ Panel
  • Health 2.0 conference? (Bilbao, Spain; November 20)
  • Medicine Meets Virtual Reality conference 17 (Long Beach, CA; January, 2009): I’m a member of the organizing committee.
  • NeXtHealth conference (2009)

And of course, we will see how it goes.

Music and Your Genes: One Step Closer to Understanding the Biological Basis of Musical Ability [DNA and You]

Posted: 03 Jul 2008 09:39 AM CDT

We've all come across certain people who seem to have a particularly high ability to play and/or appreciate music.  As a geneticist, my assumption has always been that this is inherent and heritable to some degree.  Nevertheless, it could certainly be argued that it is environmental. 

The literature provides some support for the concept that musical ability is genetic.  For example, musical talent has been noted to cluster in some families.  Additionally, the ability to identify pitch in the absence of a reference pitch clusters in families, as well.  Conversely, tone deafness, also known as congenital amusia, also seems to be genetic on the basis of strong familial clustering.  Lastly, in a formal study of pitch recognition in twins, the heritability of scores on the so-called Distorted Tunes Test were estimated to be more than 70%.

Now, a Finnish research group has demonstrated that it is highly likely that a gene on chromosome 4 (located in the vicinity of chromosome band 4q22) influences musical aptitude.  They utilized three different measures of musical aptitude in coming to this conclusion and performed a "genome-wide linkage test."  This study has narrowed the region containing the gene to a segment of the chromosome containing ~50 genes, so further studies will be necessary to find the precise genetic change influencing musical aptitude in these families. The authors also noted other regions of the genome in which there was suggestive linkage, suggesting that musical aptitude is likely to be affected by multiple genes.  It will be interesting to watch as these are hopefully identified in future studies.

Reference

K Pulli et al.  Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22.  Journal of Medical Genetics 45: 451-6, 2008. 

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