Over the next week and a half I will be examining the Archon X PRIZE for Genomics, a challenge from the Archon X PRIZE Foundation to foster the development of efficient and inexpensive genomic sequencing. Not only will the X PRIZE for Genomics change the face of medicine, but it will also have an ENORMOUS impact on the field of genetic genealogy, which we’ll discuss in Part IV of the series. Stay tuned for all the information you need to know about the prize, and if you have any thoughts or questions please leave a comment!
History of the Archon X PRIZE for Genomics:
In 2003 the J. Craig Venter Science Foundation announced a $500,000 Genomic Technology Prize that would be awarded to an the group whose technology significantly enhanced “the field of high throughput DNA sequencing by enabling a human genome to be sequenced for $1,000 or less.” The Foundation believed that crossing this threshold would enable the majority of individuals to afford genomic sequencing as part of medical treatment.
In 2003, researchers from around the world released a paper that suggested that 8% of all Mongolian males have a common Y chromosome because they are the descendants of Genghis Khan (See â€œThe Genetic Legacy of the Mongols,â€ 2003, Zerjal, et. al., American Journal of Human Genetics, 72: 717-721).The researchers examined the Y chromosome variability of over 2000 people from different regions in Asia and discovered a grouping of closely related lines.The cluster is believed to have originated about 1,000 years ago in Mongolia and its distribution coincides with the boundaries of the Mongol Empire.
Genghis Khanâ€™s empire (he ruled from 1206 â€“ 1227) stretched across Asia from the Pacific Ocean to the Caspian Sea and was reportedly extremely prolific.Khanâ€™s son Tushi had as many as 40 sons.His grandson Kublai Khan is reported to have had as many as 22 sons, and perhaps many more.Together this family may have as many as 16 million descendants alive in Asia today.It is extremely important to note that until DNA can be extracted from Khanâ€™s bones (which have never been found), there is no definitive proof that this Y chromosome cluster is actually descended from Genghis Khan.
The Genetic Genealogist has been invited to be a member of the new genetics blogging group The DNA Network, founded by Rick Vidal of My Biotech Life and Hsien Lei of Eye on DNA. The group is “a network (double helix?) composed of life science enthusiasts with specialized views in areas such as genetics, biology, biotechnology, health care, and much more.”
Not only is the network a great way to discover new blogs, but it is an opportunity to stay current on events and developments in the field of genetics. The following blogs are currently members of the network:
Thomas Jefferson, 3rd President of the United States, has been at the center of a DNA controversy for over 200 years.In September 1802 journalist James T. Callender wrote in Richmond Reporter that Jefferson had for many years â€œkept, as his concubine, one of his slaves.Her name is Sally [Hemmings].The name of her eldest son is Tom.His features are said to bear a striking though sable resemblance to those of the president himself.â€Although these rumors had reportedly already been passed around quietly, this article spread the rumor far and wide, setting off many years of debate.
In 1998 analysis of a male descendant of Jeffersonâ€™s paternal uncle showed that Jeffersonâ€™ Y chromosome belonged to haplogroup K2 (Thomas Jefferson did not have any male descendants to provide DNA.For more information, see: â€œJefferson fathered slaveâ€™s last child.” 1998. Nature 396 (6706): 27â€“28. PMID 9817200).Haplogroup K2 is rather rare, constituting just 1% of worldwide Y chromosomes (See â€œThomas Jeffersonâ€™s Y chromosome belongs to a rare European lineage.â€ Am J Phys Anthropol132(4): 584-9.PMID 17274013 ).Surprisingly, or perhaps not-so-surprisingly depending on which side of the debate you stood, a male descendant of Sally named Easton Hemmings possessed the same K2 chromosome, suggesting a genetic link between Jefferson and Easton.Keep in mind, however, that this is not determinative since it is possible that any of Jeffersonâ€™s male relatives (who possessed the same Y chromosome) could have fathered Easton.And keeping in mind that non-paternal events are ALWAYS a possibility, nothing is 100% certain.Not until we can time-travel and obtain DNA samples from the source!
Some scientists have hypothesized that Australian aboriginals received a portion of their DNA from an ancient hominid species called Homo erectus, which for a short time was contemporaneous with modern man. A recent study published in PNAS (Proceedings of the National Academy of the Sciences) set out to answer this question by analyzing mtDNA and Y-chromosome samples from aboriginals.
A total of 172 mtDNA and 522 Y-chromosome previously published and new sequences from aboriginal Australians and New Guineans were analyzed for mtDNA and Y-chromosome variation and were compared to the current world haplogroup tree. All of the mtDNA sequences were members of the M and N founder branches, and all of the Y-chromosome sequences fell into the C and F founder branches.
Scienceroll just posted a hilarious video called the “DNA-ting Game“, an advertisement for Caliper Life Sciences which is a spoof on 1970’s “The Dating Game.” If you think science humor is funny, you’ll love this video. I highly recommend you go check it out. For a little background information, they talking about analyzing DNA samples using gel electrophoresis. The video is actually an elaborate advertisement for an alternative to electorphoresis.
There are some other funny videos I’ve seen as well, including the great advertising campaign from Biocompare. There are three commercials – here, here, and here. They’re another example of biotechnology companies jumping into this field of advertising. In our lab we typically made decisions based on price, but who knows what effect appealing to our sense of humor might have?
I was very surprised when genetic testing revealed that my maternal lineage was not European. I’m sure, however, that my surprise was nothing compared to that of two British women who recently discovered that their maternal lineage was of Native American descent (the original article is available through the BBC).
Doreen Isherwood and Anne Hall learned that their mtDNA belonged to Haplogroups A and C, traditional Native American Haplogroups. As the BBC story explains, Native Americans were brought back to England as early as the 1500s.
Said Ms. Hall: “I was thrilled to bits. It was a very pleasant surprise. To have Native American blood is very exotic.”
Yesterday Science published a report from deCODE genetics in Iceland and a second report from academic colleagues in the United States and Canada that announced the discovery of a gene variant (a SNP) on chromosome 9p21 that results in an increased risk of heart attack (the abstracts are available online here and here). The SNP was discovered through genome-wide SNP analysis in Iceland and replicated in three groups of European descent in the United States. I don’t have access to either paper, but according to deCODE’s press release the variant is estimated to account for 20% of the incidence of heart attacks in Europeans, including one-third of early-onset cases (men and women age 50 to 60). Both companies used SNP Chips (that’s fun to say outloud), tiny gene chips that contain thousands and thousands of SNPs across the entire genome. Want to learn more about SNPs? Go to the SNP information page at the Human Genome Project.
Update: The podcast was updated to add the last 5 minutes of the interview (after the commercial break).Â As a result, the link to the podcast changed.Â I apologize to everyone who tried the old link – it should work fine now.
Market News First, a website dedicated to microcap markets, recently interviewed the CEO of DNAPrint Genomics, Inc.”Richard Gabriel, President and CEO of DNAPrint Genomics, Inc. spoke with MN1.com’s Rich Hancock on April 26th, 2007 about the Company’s innovative and cutting edge technology that aids law enforcement crime scene investigation (CSI) forensics, consumer applications in genealogy ancestry/genetic testing and its pharmaceutical and diagnostic applications. Mr. Gabriel highlights the Company’s recent advances in its pharmaceutical and diagnostic, and talks about its successes in both law enforcement and the growth market of DNAPrint’s consumer oriented products.”
1.Who is GINA?
GINA isnâ€™t a â€˜whoâ€™, itâ€™s a â€˜whatâ€™.GINA stands for Genetic Information Non-Discrimination Act.
2.Okay, what is the Genetic Information Non-Discrimination Act?
GINA aims to protect individuals in a variety of different areas.The legislation would prohibit access to genetic information by insurance companies and would prohibit insurance companies from discriminating against an applicant based on genetic information, the refusal to submit genetic information, or for have been genetically tested in the past.Additionally, the Act would prohibit employers from using or collecting genetic information to make employment decisions. The Act also establishes a Genetic Nondiscrimination Study Commission that is charged with reviewing new developments in the field of genetics and advising Congress.