23andMe and mondoBIOTECH announced at Davos (the World Economic Forum in Switzerland) today that they will work together to further the study of rare diseases.Â According to the press release (below), mondoBIOTECH will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Serviceâ„¢.Â Researchers will use the information collected to learn more about the potential causes of these rare diseases.
Linda Avey appeared on CNBC this morning to discuss the company and the partnership â€“ see â€œIt’s All in the Genes.â€
The Press Release:
Davos, Switzerland â€“ January 28th 2009 â€“ 23andMe, Inc., an industry leader in personal genetics, and Mondobiotech AG, a Swiss research company dedicated to the development of treatments for rare diseases, today announced at the World Economic Forum in Davos, Switzerland, that they are collaborating to advance research of rare diseases.
Although I can hardly hope to introduce or discuss these recent events any better than Daniel MacArthur has already given at Genetic Future, I will at least bring this new information to your attention.
Last Wednesday the New York Times printed â€œMy Genome, My Selfâ€, an article written by Stephen Pinker, one of the Personal Genome Projectâ€™s â€œFirst 10.â€Â In the article, Pinker talks about his experience with genome sequencing through the PGP.Â It is especially interesting since Pinker analyzes the issue from the point of view of a psychologist.Â I highly recommend reading this article if you are at all interested in personalized medicine or genetics.
Much of the article discusses the confusing results that are returned by genome/disease analysis, due to our current lack of understanding in this enormous field:
An international team of researchers have concluded that humans entered the Americas from Asia along at least two different paths.Â By studying two rare mtDNA haplogroups found in Native Americans â€“ D4h3 and X2a â€“ the researchers conclude that D4h3 spread into the Americans along the Pacific coast while X2a entered through the ice-free corridor between the Laurentide and Cordilleran ice sheets.
From the Press Release:Â â€œSix major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,â€ said first author Ugo Perego, director of operations at SMGF. â€œSo we chose to analyze two rare genetic groups and eliminate that â€˜statistical background noise.â€™ In this way, we found patterns that correspond to two separate migration routes.â€
I recently wrote about using genetic genealogy to potentially identify a male’s unknown surname. Although I had in mind using DNA to find an adopted male’s biological surname, the method has numerous other applications. For instance, it can be used in an attempt to identify the surname of a male who has forgotten his biological surname.
A Mystery Man
Just before 7 a.m. on August 31, 2004, an adult male was found lying next to a dumpster behind a Burger King in Richmond Hill, Georgia. He was naked, beaten, sunburned, and covered in bites from fire ants. Benjaman Kyle, as he has decided to call himself (note the BK connection), eventually recovered from his physical ailments but was unable to remember anything about himself or his past. To this day, he cannot remember anything, although he claims to have vague memories or affiliations for certain things. For example, he appears to have some background knowledge of restaurant equipment and design. Surprisingly, he does not match any known missing person report, and no one has come forward with knowledge of his identity, despite considerable media coverage. For more background information about Benjaman Kyle, see “A Real Live Nobody” in SavannahNow.
Image via Wikipedia
HAPPY NEW YEAR!Â I hope everyone is enjoying a relaxing start to the new year.Â Thank you for reading TGG in 2008, and I hope you are as excited as I am about the developments in genetic genealogy that 2009 is sure to bring!
Here is a recap of some of the most recent news in genetic genealogy and personalized genomics in the end of 2008:
Personalized medicine covered in the New York Times.
Dr. Marjolein Kriek, First Woman to Have Her DNA Sequence Determined (HT: Megan Smolenyak).
DNA results show no link to ancient human remains – About 230 Native people participated in study to find ShukÃ¡ Kaa descendants.Â Dr. Brian Kemp, who I interviewed back in 2007, is attempting to find maternal relatives of 10,300 year-old remains named ShukÃ¡ Kaa (Man Before Us) who is Haplogroup D.Â Native Americans are often reluctant to donate their DNA, and this collection represents a huge sampling of Native mtDNA.Â I hope the sequences will be shared.Â See more here and here.
Image via Wikipedia
I’m currently in the middle of third-year law school exams, so I thought I’d do a round-up of all the interesting stories I’ve seen over the past week or two.
Holiday Specials on DNA Testing
First, it appears that most of the major genetic genealogy companies are offering special deals for the holidays:
Family Tree DNA announces a holiday sale – FTDNA is offering reducing pricing for customers who are part of or join a DNA project. For example, a 37-marker Y-DNA test is reduced to $119, down from $149.
Ancestry.com announces holiday sale – buy a DNA test between now and December 31st, and you’ll receive 40% off. For example, a 33-marker Y-DNA test is $89.40 (usually $149) and their mtDNA test is $107.40 (usually $179).
As the Guardian reported today in “Genealogy website MyHeritage offers low-cost DNA tests“, Family Tree DNA and MyHeritage have formed a partnership to combine DNA testing with online family trees.Â From the press release:
“With close to 220,000 records, FamilyTreeDNA is the largest database of genealogic DNA information in the world. This provides the perfect complement to MyHeritage’s current research tools, giving our members another way to learn about where they come from,” said Gilad Japhet, founder and CEO of MyHeritage. “We help people around the world discover, connect and communicate with their extended family network and easily research their family history. Now, by working with FamilyTreeDNA, we can offer a solution when the paper trail runs out.”
The 58th annual meeting of the American Society of Human Genetics is currently being held in Philadelphia.Â Today at 10:00AM there will be a session specifically about genetic genealogy entitled “The Social, Ethical, and Biomedical Implications of Ancestry Testing: Exploring New Terrain.”Â From the abstract:
“What is genetic ancestry and how does it relate to race and ethnicity? The development of increasingly cost effective genomic sequencing technologies and public interest in genetic ancestry has led to a dramatic flourishing of direct-to-consumer products and new approaches to biomedical research. In this session, panelists define the contours of this emerging landscape and explore the commercial, biomedical, social and ethical implications of this burgeoning category of genomic application. Panelists consider the following questions: What genetic ancestry information is available to consumers? How is genetic ancestry used in biomedical research? What implications do genetic approaches to ancestry have on social identity? What ethical and policy issues must be addressed in this changing landscape? Panelists provide perspectives from industry, medicine, cultural studies, and bioethics.”
Image via Wikipedia
Ötzi the Iceman is the popular name for a 5,000 year-old mummy discovered frozen in the ice of the Alps in 1991. Studies of the Iceman has revealed an immense amount of information about him, including details of his life, his death, and his culture.
Although Ötzi’s mtDNA has previously been studied, researchers had only examined short segments which suggested that his mtDNA belonged to Haplogroup K. A new paper in Current Biology (subscription only darn it) details Ötzi’s full mtDNA genome for the first time:
"Using a mixed sequencing procedure based on PCR amplification and 454 sequencing of pooled amplification products, we have retrieved the first complete mitochondrial-genome sequence of a prehistoric European. We have then compared it with 115 related extant lineages from mitochondrial haplogroup K. We found that the Iceman belonged to a branch of mitochondrial haplogroup K1 that has not yet been identified in modern European populations."
Old 23andMe logo via CrunchBase
The latest issue of TIME Magazine lists the top 50 inventions of 2008, and the invention of the year is the Retail DNA Test.Â The article is mostly about the product currently offered by 23andMe.Â From the article:
“We are at the beginning of a personal-genomics revolution that will transform not only how we take care of ourselves but also what we mean by personal information. In the past, only Ã©lite researchers had access to their genetic fingerprints, but now personal genotyping is available to anyone who orders the service online and mails in a spit sample. Not everything about how this information will be used is clear yet â€” 23andMe has stirred up debate about issues ranging from how meaningful the results are to how to prevent genetic discrimination â€” but the curtain has been pulled back, and it can never be closed again. And so for pioneering retail genomics, 23andMe’s DNA-testing service is Time’s 2008 Invention of the Year.”