The American Society of Human Genetics is having its 58th Annual Meeting in November.Â As I was looking through the meeting abstracts, I noticed that there were a number of abstracts that dealt with topics related to genetic genealogy.Â I thought some of you would be interested in getting an advance look at genetic genealogy research that will be publicly released and published over the next year or two.Â Although I didn’t include the whole abstracts for most of them, I did include a link for further investigation.Â (Note: I got this idea from Dienekes’ Anthropology Blog).
Interestingly, the first five abstracts all include researchers from the Sorenson Molecular Genealogy Foundation, showing how much the Foundation is providing to the genetic genealogy community.
“Houston is also home to Family Tree DNA, a company that offers the same services as Oxford Ancestors. Last year, Harvard professor Henry Louis Gates joined forces with Family Tree DNA to help African Americans looking for answers about their past. AfricanDNA, the company Gates launched in November 2007, offers both genetic testing and genealogical tracing services for African Americans.”
Welcome to the September 14, 2008 edition of Gene Genie!Â Bloggers have begun to pick up posting with the end of summer, and it seems like everyday there’s a bunch of new interesting posts about the human genome.
Colleen Fitzpatrick, Ph.D. is one of the most recognizable names in the field of forensic genealogy.Â She has authored two books entitled Forensic Genealogy and DNA & Genealogy, and continues to make headlines in this fascinating field.Â Here is just an excerpt from her biography, located at her website:
“Colleen Fitzpatrick, Ph.D., is the author of two of the best-selling books in genealogy.Â Forensic Genealogy has been widely recognized for its innovative forensic science approach to genealogical research.Â She has been featured on NPR’s Talk of the Nation radio program (July 2005), and has written cover articles for Internet Genealogy (June 2006), Family Tree Magazine (April 2006) and Family Chronicle (October 2005).Â Colleen writes a regular column for Ancestry magazine.”
Also check out the article and video “Mapping Out a Nascent Market” at boston.com, which is directed towards personal genetic companies such as deCODEme, 23andMe, Navigenics, and Knome.
And lastly, scientists have sequenced and recreated the Neanderthal mtDNA genome.Â For more information see john hawks weblog, Genetic Archaeology, Genea-Musings (with a humorous twist), Anthropology.net, and The Spittoon.Â The original article is in Cell.Â Turns out there are roughly 206 differences between the CRS (the Cambridge Reference Sequence, the mtDNA to which all human mtDNA is compared) and Neanderthal mtDNA; 195 transitions and 11 transversions.
Genetic genealogy has the potential to reveal information about your health (for example, DYS464 can reveal infertility and sequencing of the entire mtDNA genome can reveal mutations that are suspected of being associated with certain disorders).Â Although I usually don’t consider this possibility to be serious enough to discourage genetic genealogy testing, I do believe that people should be aware of the possibility before being tested.
A new study in the American Journal of Human Genetics (available here) examined the frequency of ten (potentially) pathogenic mitochondrial point mutations in 3168 neonatal cord blood samples.Â Of these samples, a total of 15 (or 1 in 200) harbored one or more of the mutations.
Interestingly, the mtDNA of 12 of the 15 samples were heteroplasmic, meaning that their cells harbored both mutated and non-mutated mtDNA genomes.Â Figure 1 from the paper, above, shows the percentage of mutated mtDNA in each of the 15 samples with mutations, from nearly 0% to the 100% in the three homoplasmic samples.
The ninth and final edition of the TGG Interview Series is with Dr. Ana Oquendo PabÃ³n.Â Dr. Oquendo PabÃ³n is DNA and Historical advisor to the Lost Colony DNA and Research Group, and is an Administrator or Co-Administrator to numerous DNA projects.Â Her bio is can be seen here.
In the following interview, Dr. Oquendo PabÃ³n discusses her introduction to the field of genetic genealogy, her own experiences with genetic testing, and her thoughts about the future of genetic genealogy.Â It’s a terrific interview, so read on.
TGG: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?
Ana Oquendo PabÃ³n: I have been involved in genetic genealogy since very early in 2003. My brother and I have been traditional genealogists for about 28 years. Due to the excellent records on the island and hard research, we had long known all of our 64 grandparents except for one and all except 4 or 5 couples of our 128 ancestors. I had been keeping track of the news online concerning the “new science” and unique way of tracing your ancestral roots. I think everyone had heard about the Thomas Jefferson and Sally Hemmings story by that time. I had also read about a particular genealogist named Bennett Greenspan’s own amazing quest to confirm his paternal DNA with an individual in Argentina and how he had started a genetic testing company to help others accomplish what he had done using yDNA. In 2003, I decided to give my brother a DNA kit as a combined birthday and anniversary present. We were among the first ten thousand genetic genealogy pioneers to take advantage of this new way of research. This spurred the idea of helping others in our field of expertise which was the genealogy of Puerto Rico and the Puerto Rican Project (Proyecto ADN de Apellidos PuertorriqueÃ±os) was born.
Thomas Goetz has written another terrific article about genetic testing and the Personal Genome Project.Â This article, entitled “The Gene Collector,” appears in Wired Magazine.Â The article provides some new information about the PGP, including some of the incredibly detailed phenotype information that will be collected from the next 100,000 volunteers in the project.
The article also reveals the tenth and final participant of the “First 10″, the original 10 volunteers in the PGP.Â I wrote about the first nine volunteers in the PGP almost exactly one year ago and noted that the tenth participant had not yet released his or her name.Â The Wired article, however, mentions a number of participants including George Church, Esther Dyson, Rosalynn Gill, John Halamka, and Steven Pinker.Â Indeed, a check of the PGP website confirms that Steven Pinker is the last PGP volunteer to be identified.
Portfolio presents an interesting four-part series by David Ewing Duncan about personal genomics. But before I go on, it is important to realize that this series focuses on personal genomics – analysis of SNPs or sequencing throughout the genome – rather than the much narrower field of genetic genealogy. Although there are some ethical concerns surrounding genetic genealogy, they are not specifically addressed in the series.
Portfolio’s public relations coordinator circulated a summary of the series (I wish I had a PR coordinator!):
In Portfolio.com columnist David Ewing Duncanâ€™s four-part series, â€œYou 2.0,â€ he assess and compares three major websites recently launched that test a personâ€™s DNA for risk-factors for everything from Alzheimerâ€™s Disease and heart attack to drug addiction, an ability to taste bitterness, and ancestry. Is this information ready for prime time? Can it really predict a healthy personâ€™s medical future? Duncan has been tested by 23andme, deCodeme, and Navigenics, and reports on his sometime contradictory and confusing, sometimes funny, and occasionally enlightening results gleaned from these controversial sites that are attempting to bring genetics directly to the people.
For new readers of The Genetic Genealogist, 23andMe is a personal genomics company that offers a service to examine more than 600,000 SNPs throughout an individual’s genome. The information is then used to analyze ancestry (using Y-DNA and mtDNA) and to estimate propensity for disease. For much more info about 23andMe and similar companies, look under “Personal Genomics” on my Featured Articles page.
Today, 23andMe announced on their blog – The Spittoon – the winner of the company’s first ‘Win Your Genome Contest’. The contest was to describe Lilly Mendel, a publicly available but anonymous profile at 23andMe – based upon her genetic information alone. The winner was Mike Cariaso, who previously created a program that analyzes 23andMe SNP data using the growing SNPedia database.