Personalized Medicine: Legal Update

Up until now, there has been a big problem in the realm of personalized medicine, with respect to pharmacogenomic analysis, record keeping and access to information. Previously, according to US law, anybody could have access to that information. Meaning: employers and insurance companies could scan your results, or look at your specific genotypes that pre-dispose you to specific illnesses or conditions and discriminate against you for fear of taking on too much risk financially. See my post on ethics of personalized medicine.

As of April 25th, the US House of Representatives voted 420 to 3 in favour of passing the Genetic Information Nondiscrimination Act (GINA), and the senate along with President Bush are expected to approve the act in a few weeks. Undoubtedly, this will be a huge step for the world of personalized medicine. We are already seeing the use of pharmacogenomic markers such as Cytochrome P450 (including the 2C9 and 2D6 variants), warfarin and others that screen for efficacy of drugs such as Herceptin.

It is good timing for this news to come as genotyping is becoming evermore affordable.

Everyone should thank the NHGRI Director Francis Collins for pushing to get this act passed! The act has been shot down twice previously by the senate; hopefully, as the saying goes, the third time will be the charm.

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Essential Gene Clusters

I just came across a very interesting article that talks about essential gene clusters and some speculation from a lab out of the Baylor College of Medicine.

Scientists say they found a cluster of essential genes on mouse chromosome 11, which is also found to be conserved in other organisms including humans, possum, cow, dog and chimp.

“When we saw that there were all these essential genes in this region, we wondered if the reason that the chromosome remained together (and is not easily broken apart or recombined with other parts of this or other chromosomes) is that it had all these densely packed essential genes. The reason this part of the chromosome has remained intact is that it has densely packed essential genes. If the chromosome broke anywhere, the organism would not develop,” said Dr. Monica Justice, the associate professor of molecular and human genetics at Baylor.

View full scientific publication at PLoS Genetics.
View full review article at

Prostate Cancer Update: New Gene

A genetic pattern (variation) found on human chromosome 8 has been found to have an association with a 5x risk increase for developing prostate cancer. It is thought to cause 2/3 of African-American cases and 1/3 of Caucasian-American cases of the disease.

Another biomarker might be coming! Pharmacogenomics companies: ready … go!

Full story at

Gene Therapy: Eye-Eye Doc!

Twelve patients are in the middle of a first-of-its-kind trial in the UK. They are undergoing gene therapy to correct a genetic gene deficiency; a gene called RPE65. It is supposed to be expressed at the beack of the eye, in the retina, and without that gene expression the eye won’t interpret images.

Currently in one patient, Robert Johnson, he can now see outlines during the day, but little at night – he has had genes inserted into one eye. The procedure itself requires extensive precision, including a risk of tearing the retina. (See image to the right; Source: Moorfields Eye Hospital)
Story adapted from BBC.
See full story here.

At a Glance: RNAi Companies

I have stumbled upon a new blog, authored by Dirk Haussecker, a Stanford post-doc in RNAi-releated research. He put together a nice view of the companies operating within the RNAi space. Check it out.

Of all the companies, he highlighted Alnylam Pharmaceuticals for having a healthy IP portfolio surrounding their work in RNAi and microRNAs in humans. Keep on the lookout.

Alzheimers and Dementia

There has been much in the way of research in these two areas. Recently I attended a conference in Toronto called BioFinance which brings together companies looking to receive funding (either private or public) and investors. At the conference I saw a company presentation from Transition Therapeutics that discussed its new Alzheimer’s drug called AZD-103 which just received fast-track status from the FDA on April 3, 2007. It has some pretty exciting pre-clinical data … it demonstrates a breakdown of amyloid fibrils within plaques that form on and within the brain essentially reversing damage. The positive results were shown in mice using a Morris water maze test (bottom of page). Could this be that miracle drug we’re all looking for?

Next, I want to discuss a study released which claims that lost memories could be restored by ‘rewiring’ brain; the study was done by MIT researcher Li-Huei Tsai and interestingly enough also utilized the Morris water maze test to show clinical efficacy of their therapy. Their team targeted HDACs (enzymes that prevent histone acetylation) with an HDAC inhibitor under the assumption that HDAC inhibitors initiate the rewiring of neurons. Of course its too early to tell if their therapy is going to go anywhere … let’s wait to see a licensing deal come out of their technology – then I’ll get excited.

Harvesting Bioenergy from Switchgrass

Recently, scientists have made progress on finding the key genetic elements responsible for controlling lignin production in swtichgrass though monitoring of mRNA transcripts. This discovery brings switchgrass one step closer to being used as a source of bioethanol. See full story at Scientists Turn Genetic Keys To Unlock Bioenergy In Switchgrass.

Metagenomics – Emerging Field

Metagenomics is defined as the study of genomes recovered from environmental samples as opposed to from clonal cultures (wikipedia). The National Research Council says that these new capabilities in genomics will revolutionize understanding of the microbial world.

The Research Council report was requested by several federal agencies interested in the potential of metagenomics and how best to encourage its success. In particular, the committee was asked to recommend promising directions for future studies. It concluded that the most efficient way to boost the field of metagenomics overall would be to establish a Global Metagenomics Initiative that includes a few large-scale, internationally coordinated projects and numerous medium- and small-size studies.

Metagenomics studies begin by extracting DNA from all the microbes living in a particular environmental sample; there could be thousands or even millions of organisms in one sample.

Please see the article at Science Daily for more information.

RNA Psuedoknots and the Universcale

I am in a hurry today, so this is going to be brief.

I was checking out the latest over at DIGG, and came across this cool flash applet make by Nikon Japan called Universcale that takes you from picometers to billion of light years in scale, showing objects (albeit, I expected a little bit more quality here) from neutrons to the edge of the universe.

Also, I’m reporting on a new discovery in the realm of viral research. Researchers at the Niels Bohr institute used optical tweezers to grab the ends of an RNA molecule produced by a bird flu virus. They found that the viral-encoded RNA has psuedoknots that cause human RNA polymerase to create the wrong protein (for human), but right for the virus! Check out more at the Science Daily article.