Happy DNA Day!

dna_cancerThough I am a week late in expressing this sentiment, I feel I must acknowledge this rather interesting of events. As it stands, this past April 22nd was the sixty-first anniversary of the molecular structure of DNA being revealed to the world. What began as a publication in the magazine Nature has now become emblematic of the programming language of life, and our understanding of DNA has grown by leaps and bounds over the past six decades.

To commemorate such an important landmark in the history of humanity, a look back at some of the more recent developments in the field of genetic research would seem to be in order. For example, it was on April 22nd of this year that a rather interesting study was published in the Proceedings of the National Academy of Sciences. The lead on this study was none other than Svante Pääbo – the world’s foremost expert in Neanderthal genetics.

humanEvolutionBased on the genomes of three neanderthals that were found in disparate locations in Eurasia, Pääbo and his colleagues have concluded that the genetic diversity in Neanderthals is significantly less when compared to present-day Homo sapiens. It also appears as if the Neanderthal populations were relatively isolated and tiny, so gene flow was extremely limited for these groups. In short, our homonid cousins didn’t get around and interbreed quite as much as we’ve done, which may shed some light on their disappearance.

On the very same day, an article was published in the Proceedings of the Royal Society B that proposed that skin cancer from the sun’s damaging UV rays was actually a driving force in the national selection for dark skin in early humans. In the article, Mel Greaves delivers a compelling argument that the deadliness of skin cancer in young albino children in Africa and Central America demonstrates just how vital it was for early humans to develop dark skin.

GenoChipAnd on April 25th, National Geographic and Family Tree DNA teamed up to announce the release of a brand new version of the human Y-DNA tree. This new tree of Y chromosome mutations has over 1,200 branches — almost double the number of branches that the Genographic Project was displaying before. With this much refinement, it’s now even easier to track the historical migrations of your distant ancestors.

To celebrate this monumental roll-out, Family Tree DNA offered a 20% discount on the 37-marker Y-DNA test and all individual Y-DNA SNP (single-nucleotide polymorphism) tests, an offer which sadly expired on April 27th. However, interested parties can still have this cutting-edge anthropological genetic test performed for $200. And it’s something to keep in mind for next year certainly. What better way to celebrate DNA day than to have a full genetic profile of yourself made?

encodeAnd let’s not forget, 2012 was also the year that the Encyclopedia of DNA Elements (ENCODE) Consortium – an international collaboration of research groups funded by the National Human Genome Research Institute (NHGRI) – released the world’s most complete report on the human genome to date. Unlike the Human Genome Project, which released the first catalog of human DNA back in 2003, ENCODE was not only able to catalog the human genome’s various parts, but also what those components actually do.

Among the initiative’s many findings was that so-called “junk DNA” – outlier DNA sequences that do not encode for protein sequences – are not junk at all, and are in fact responsible for such things as gene regulation, disease onset, and even human height. As I’ve said before, these findings will go a long way towards developing gene therapy, biotechnology that seeks to create artificial DNA and self-assembling structures, and even cloning.

Tree-600x405Yes, it’s an exciting time for the field of DNA research, and not just because of the many doors its likely to open. Beyond medical and bioresearch, it helps us to understand of ourselves as a species, our collective origins, and may perhaps help us to see just how interconnected we all truly are. For centuries now, a great many evils and prejudices have been committed in the name of “racial superiority” or racial differences.

Armed with this new knowledge, we might just come to realize that this great organism known as humanity is all fruit of the same tree.

Sources: extremetech.com, genome.ucsc.edu, newswatch.nationalgeographic.com

Patenting Genes: New Questions over Property Rights

People walk in front of the Supreme Court building in WashingtonToday, in Washington DC, the US Supreme Court heard arguments made for and against the belief that the human genome can be claimed as intellectual property. For almost thirty years now, US authorities have been awarding patents on genes to universities and medical companies. But given the recent publication of the human genome, this practice could have far reaching consequences for human rights.

Ever since USC researchers published ENCODE – The Encyclopedia of DNA Elements Project – scientists and law-makers have been scrambling to determine what the next step in human genetics research will be. In addition to using the complete catalog of genetic information for the sake of bioresearch, medicine and programmable DNA structures, there are also legal issues that go back decades.

encodeFor example, if companies have the right to patent genes, what does that say about the human body? Do property rights extend to our mitochondrial DNA, or do the rights over a particular gene belong to those who discovered it, mapped its functions, or those who just plain planted their flag in it first? One of the most interesting aspects of the 21st century may be the extension of property wars and legal battles down to the cellular level…

Currently, researchers and private companies work to isolate genes in order to use them in tests for gene-related illnesses, and in emerging gene therapies. According to researchers at Weill Cornell Medical College in the US, patents now cover some 40% of the human genome, but that is expected to increase in the coming years, accounting for greater and greater swaths of human and other living creature’s DNA.Genes1This particular lawsuit, filed by the American Civil Liberties Union in conjunction with the Public Patent Foundation, relates to seven specific patents that were made on two human genes held by US firm Myriad Genetics. These genes are linked to breast and ovarian cancer, and Myriad has developed a test to look for mutations in these genes that may increase the risk of developing cancer.

The company argued that the genes patented were “isolated” by them, making them products of human ingenuity and therefore patentable. But of course, The ACLU rejected this argument, saying that genes are products of nature, and therefore can’t be patented under US or any other man-made law.

genesWithout a doubt, there concerns are grounded in what this could mean for future generations, if people themselves could be subject to patents simply because they carry the gene that a company holds the patent on. And who can blame them? With almost half of the stuff that makes our bodies tick belonging to private companies, how big of a stretch would it be for companies to effectively own a human being?

Alternately, if companies are not allowed to patent genes, what will this mean for medical and bio research? Will cures, treatments, and medical processes become a complete free for all, with no one holding any particular distribution rights or having their exclusive work recognized. And of course, this would have the effect of hurting a research or corporate firms bottom line. So you can expect them to have something to say about it!

It’s a new age, people, with patents and prospecting extending not only into space (with asteroids), but into the human genome as well. Predictable I suppose. As humanity began expanding its field of view, focusing on wider and more distant fields, as well as gaining a more penetrating and deeper understanding of how everything works, it was only a matter of time before we started squabbling over territory and boundaries again!

Sources: bbc.co.uk, reuters.com