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Using DNA to Examine James Madison’s Family Tree
According to a 200-year-old family legend, Bettye Kearse - an African American - is the direct descendant of James Madison. Madison, of course, was a founding father and fourth President of the United States. As the story goes, he fathered a child name Jim with a slave cook named Coreen. For the past 4 years she and genetic genealogist Bruce Jackson of the Roots Project have tried to use DNA to prove or disprove a story passed through 5 generations of the family.
Unfortunately, Kearse and Jackson have been unable to obtain DNA samples from Madison’s descendants, stating that they have been “neither sincere nor forthcoming in this effort.” The president of the National Society of Madison Family Descendants, Frederick M. Smith, cited confidentiality concerns and declined to comment.
An article in the Washington Post describes the situation. According to Smith, “his society has received several claims of family ties to the president over the years and those wishing to test their DNA against that of a Madison family descendant can do so through an online genetic testing service, a method he called objective and without racial bias.” However, Jackson called the approach “scientifically flawed.” I disagree with Jackson; this method would clearly shed light on the question. Of course a negative result will mean more research and testing, but a positive result would really get the ball rolling. I also don’t believe that Jackson’s lab or organization should perform the comparison; it clearly should be a neutral third party.
The Madison Society has suggested that Family Tree DNA be used to compare Kearse’s DNA to DNA from an anonymous Madison descendant. According to the article, Jackson maintains that “there was no way to verify, genetically or historically, whether the so-called Madison DNA being used for the test would be valid. If the test came back negative, he said, it would prove nothing, but Kearse’s claim might still be dismissed as false.”
Of course, traveling down the Madison family tree is not the only direction to go. I’m sure Kearse will be able to identify a distant Madison relative who will be willing to submit a DNA sample. Indeed, in December, “Jackson traveled to England to meet with a British genealogist in hopes of locating a descendant of Madison’s great-great-grandfather, John Maddison Sr., a ship’s carpenter who emigrated to Virginia in the 1650s.”
A prediction from the past
I’ve been reading old Descents, the journal of the Society of Australian Genealogists. Currently I’m in the early-1980s, where life for genealogists was quite different than it is now.
Still, it is not as different as they thought that it was going to be. There was a prediction in an article by Elizabeth Simpson called ‘Historians and Genealogists’ (Vol 11, Part 3, Sept. 1981) that in twenty years there would be no need for anyone to do any further research because it would have all been done. Every family, presumably, would have done all the research that could be done and later generations would have nothing left to do.
Well, I’m here to say that this optimistic situation hasn’t eventuated. Not only has there not been the widespread interest in genealogy that may have contributed to this result, but there is always more to do!
Some people distinguish between genealogy and family history. Genealogy is the tracing of ancestors and filling in a chart. Names and dates, basically.
Family history is what you do when the names and dates are no longer enough and you want to know about the boxes on the chart as people. You want to know about their lives - where they lived, where they went to school, where they got married, what they did for a living, what they owned, what they looked like and what sort of people they were.
The search for information that can answer these questions can take a lifetime. It can take many years to find a single name or event. Finding information is becoming easier in this era of Ancestry and FindMyPast and other online resources but there is still so much that is only available in libraries and private papers. The difficulty is in finding out that the information is there to be found.
My mother said to me once that there was no point in her getting involved in researching her family because I’d already done it all. If only that were true! Unfortunately I don’t think it ever will be ‘done’.
Irish Education Opportunities
There is a wealth of seminars and other educational opportunities concerning Ireland and the Irish in the next few months. They are not all in Sydney so be prepared for some travel.
From There to Here - Exploring 19th Century Irish migration to Australia
Celtic Club 316-320 Queen Street Melbourne Saturday 13th September 9:30am to 4pm
This seminar is being hosted by Genealogical Society of Victoria Irish Interest Group. Facilitator is Dr Val Noone and the speakers are:
- Dr Richard Reid - Why They Came (Keynote address)
- Dr Keith Pescod - 19th Century migration hostels - care or control?
- Dr Richard Reid - The Irish in Australia
- Dr Pauline Rule - Irish Women in 19th Century Colonial Victoria
- Dr Charles Fahey - The Irish in Northern and Central Victoria
This is a rare opportunity to hear such learned speakers covering a single topic of Irish relevance in such depth. Cost is $45 including lunch and morning and afternoon tea. Bookings through the Genealogical Society of Victoria on (03) 9662 4455.
Far From Famine - a gathering of the descendants of Irish Famine orphans 1848-1850
St Clement’s Monastery, Galong, NSW Thursday 2nd to Tuesday 7th October
St Clement’s Monastery is host to Shamrock in the Bush every year. This special gathering is to be held in honour of the 4114 female orphans sent to the Australian colonies from Irish workhouses between 1848 and 1850 during the Great Famine, although you don’t need to be descended from one of these orphans to attend.
Keynote speaker will be Irish archaeologist and historian Michael Gibbons. The long list of speakers will include Richard Reid, Cheryl Mongan, Perry McIntyre, Cora Num, Brad Manera, Jeff Brownrigg, and many others on a range of topics related to Irish and Australian history and the immigration of the Irish to Sydney, Moreton Bay, Victoria and South Australia.
Workshops and research assistance will be available from Cora Num and other experienced researchers. Irish Australian music and culture will be on display, with entertainment provided in the evenings. A ecumenical thanksgiving service and commemorative tree-planting have also been organised.
This is a marvellous opportunity to immerse yourself in the history and culture of this period in Australia’s history. The price includes accommodation, all meals, lectures and entertainment, including the official dinner in Galong House on the Saturday night. The price varies according to the accommodation chosen from $570 to $640 for 5 nights with a discount offered for payment before 30th August.
Full details of the programme and further information can be found at the website or by emailing the organisers at famine@shamrockinthebush.org.au.
Convicts! - a day of seminars at the Society of Australian Genealogists
Richmond Villa, 120 Kent Street, Sydney Saturday 25th October
Not strictly about the Irish, to be sure, but so many of the 140,000 or so convicts brought to this country were Irish that I thought this day warranted inclusion. Topics include:
- Getting started with convict research
- The administration of government-employed convicts
- Beyond the basics - finding out more about your convict
- Convicts/transportees and those colonial convictions in the UK and Ireland
A collection of convict items will be on display. Morning and afternoon tea are included in the price of $50 for members of the Society and $60 for non-members.
Irish Day - a day of seminars at the Society of Australian Genealogists
Venue to be confirmed Saturday 29th November
This seminar day is still in the planning stages but promises to be another excellent opportunity for Irish researchers in Sydney. Organised by Perry McIntyre. More details will become available at the Society of Australian Genealogists in the next few weeks.
Tour of Ireland May 2009 with the Society of Australian Genealogists
A regular feature on the calendar of the Society of Australian Genealogists is a genealogical tour of Ireland hosted by Perry McIntyre and Richard Reid. These tours are very popular and focus on repositories of interest to researchers. The exact itinerary can be tailored to the interests of participants.
I hope to see you at one or more of these events - please say hello!
If you know of any other Irish seminars or events please let me know and I will include them here.
The Confucius Genealogy Compilation Committee Rejects DNA Testing
See the new article at Seed Magazine “Inheriting Confucius,” which discusses efforts to generate a family tree containing the 2 million+ descendants of Confucius.
Kong De-Yong, a 77th(!) generation descendant of Confucius, has been compiling the tree for the last 10 years. Although the Committee is accepting submissions from women and other previously excluded groups, it is not accepting DNA contributions. According to the article, this “hints at the limits of Chinese engagement with the age of genomics, and demonstrates how high cultural stakes can constrain science.” Unfortunately, as the author of the article suggests, many people might be afraid of the results of such DNA testing: “Given the potential implications of genetic knowledge for long-presumed members of the [Confucius] family, they think it better not to know.”
However, there is of course no need for the Committee’s participation in order to learn more about Confucius’ DNA or Confucuis’ descendants (although it would be nice, of course). A Confucius DNA Project has already been initiated by the Beijing Institute of Genomics, and Confucius descendants can submit a sample for analysis for the price of $125.
Interesting News in the World of Genetic Genealogy
Technology Review, an MIT publication, has an article entitled “Genealogy Gets More Precise: Rapidly growing databases enable a more complete picture of one’s ancestry.“ The article, which is relatively balanced, discusses some of the benefits and challenges associated with genetic genealogy testing.
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. For more information see john hawks weblog, Genetic Archaeology, Genea-Musings (with a humorous twist), Anthropology.net, and The Spittoon. The original article is in Cell. 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.
The Summer 2008 Genea-Blogger Group Games
I’ve decided to join the 2008 Genea-Blogger Group Games (see here for more info). I’m a little late, but the organizers have decided to allow entrants until tonight at 9:00pm PDT. The Opening Ceremonies were held on Friday. I’m hoping to put a genetic genealogy twist on my entries, if possible, to highlight how genetics can augment traditional genealogical research.
The categories I plan to participate in are:
- Back Up Your Data!
- A. Prepare a comprehensive backup plan for your digital research files and a security plan for your hard copies and photos
- C. Backup all your data using a flash drive, an external drive, CDs, DVDs, or an online resource
- E. All your data is backed up digitally and secured physically and you can recover from any disaster while losing only one month or less worth of research
- Write, Write, Write!
- B. Participate in a genealogy or family history related blog carnival. See the AnceStories post “August Is…” (http://ancestories1.blogspot.com/2008/08/august-is.html) for a list of these carnivals and their submission URLs and deadlines.
- D. Write a brief biographical sketch on one of your ancestors.
- E. Sign up to host a future carnival
- Reach Out & Perform Genealogical Acts of Kindness!
- A. Comment on a new (to you) genea-blog
- B. Join another genea-blogger’s blog network on Facebook Blog Networks (http://apps.new.facebook.com/blognetworks/).
Are Disease-Causing mtDNA Mutations Common?
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). 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. 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. 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 abstract:
“Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined the frequency of ten mitochondrial point mutations in 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood samples to estimate the de novo mutation rate. mtDNA mutations were detected in 15 offspring (0.54%, 95% CI = 0.30-0.89%). Of these live births, 0.00107% (95% CI = 0.00087-0.0127) harbored a mutation not detected in the mother’s blood, providing an estimate of the de novo mutation rate. The most common mutation was m.3243A-G. m.14484T-C was only found on sub-branches of mtDNA haplogroup J. In conclusion, at least one in 200 healthy humans harbors a pathogenic mtDNA mutation that potentially causes disease in the offspring of female carriers. The exclusive detection of m.14484T-Con haplogroup J implicates the background mtDNA haplotype in mutagenesis. These findings emphasize the importance of developing new approaches to prevent transmission.”
Australian Newspapers digitisation project
The first issue of the Sydney Gazette (image courtesy of the National Library of Australia)
The Australian Newspapers project coordinated by the National Library of Australia in conjunction with Australian State and Territory libraries was initiated to digitise early out-of-copyright newspapers. To complement this process an online service was planned to provide access to these images free of charge.
At least one newspaper was chosen for each state, including the earliest one for each state. New South Wales newspapers selected are:
The Sydney Gazette and New South Wales Advertiser 1803-1842
The Sydney Herald 1831-1842 (became The Sydney Morning Herald in 1842)
The Sydney Morning Herald 1842-1954
The Maitland Mercury and Hunter River General Advertiser 1843-1893
Digitising began in July 2007. Scanning has been been completed for these newspapers and the process of putting them online has begun. The Vincent Fairfax Family Foundation has donated $1 million to enable the digitisation of the Sydney Morning Herald to 1954.
Last month a beta version of the service was released. For New South Wales the Sydney Gazette and New South Wales Advertiser is available from the first issue in March 1803 up to the end of 1815 and the Maitland Mercury and Hunter River General Advertiser for the 1840s, early 1850s and early 1880s. This represents a total of nearly 13,000 pages, or roughly 5% of the total. Click here to see the latest statistics.
The website is terrific. It shows you the whole page and shows a transcript of each article on the side. You can enlarge each article individually and turn the whole page into a PDF file or image to be downloaded. A warning - the transcripts have been created using OCR, or Optical Character Recognition. The quality of the printing is highly variable and quite often the characters are mistaken by this automated process and so you see things like “V oTi.cK” instead of “Notice”. We can see by looking at the text that it is “Notice” but computers are not that smart yet.
Another thing to watch out for is the old use of the letter “f” instead of “s” so the word might say “reforted” instead of “resorted”.
There is advanced searching capability which is necessarily dependent on the OCR.
You can add tags and comments to articles, and you can correct the text that was generated automatically. If every one does this when they find an article it will be a great website very quickly, and much easier to search.
If you sign in you can add your own private comments and tags to articles. This is very useful for your own research - you can add tags for the name of your ancestor and the type of article.
The National Library and everyone involved are to be congratulated for getting this project off to such a great start.
Genetic Genealogy Patents - A Brief Review
Yesterday, DNA Heritage issued a press release (reproduced below) regarding an opinion issued by the UK Intellectual Property. The opinion (available here) was the result of inquiry into whether claims 4-7 of a 2004 patent in England are valid. The patent, held by Bryan Sykes of Oxford Ancestors, was issued in 2004 and is directed at creating and using a database of Y-DNA haplotype information to examine surname relationships and determine the likelihood of common ancestry between individuals. The UK IPO’s opinion holds that the claims are invalid because they are either not novel, or did not require an inventive step (i.e., they were obvious). Most intellectual property offices, such as those in the UK and the US, require that an invention at least be novel and nonobvious.
Interestingly, Sykes obtained a similar patent from the U.S. Patent Office on July 24, 2007 (US 7,248,970). During prosecution (i.e. the process of obtaining the patent), the patent examiner stated that the patent was not novel in view of certain references such as scientific articles by Paoli et al. and Jobling et al., but the applicant was able to argue around that point. The issue of obviousness was never raised by the examiner.
While the UK opinion doesn’t affect the validity of the U.S. patent, the same references that were used to argue that the UK patent is not novel or lacked an inventive step could potentially be used to argue invalidity of the US patent if someone were to challenge it.
As many of you know, I’m currently studying to be a patent attorney, so this is right up my alley. I wondered how many other patents related to genetic genealogy exist, so I did a quick patent search and came up with the following list. Only the first item is an issued patents; the others are published applications, meaning that they are or were pending before the patent office but have not yet been issued as final patents. Note that all is information is public information available through the PAIR system at the United States Patent Office.
- 7,248,970 – Forensic and Genealogical Test – Discussed above. The inventor is Bryan Sykes.
- 2003/0172065 – System and Method for Molecular Genealogical Research – A method for identifying commonalities in haplotypes and other genetic characteristics of two or more individual members of a biological sample. The inventors are James L. Sorenon, Scott R. Woodward, Joel Myres, and Natalie Myres.
- 2004/0029133 – Mitochondrial DNA Polymorphisms – A method of using SNPs to detect diseases, determine haplogroups, or establish genetic relationships. The inventor is Corinna Hernstadt. This application is currently marked as abandoned.
- 2004/0229231 – Compositions and Method for Inferring Ancestry – A method using Ancestry informative markers to draw inferences about traits. The inventors are Tony N Frudakis and Mark D. Shriver. See also 2007/0037182, a related application from the same applicants.
- 2006/0025929 – Method of Determining a Genetic Relationship to at Least One Individual in a Group of Famous Individuals Using a Combination of Genetic Markers – the title describes the method. The inventor is Chris Eglington. This application is currently marked as abandoned.
- 2007/0042369 – Methods of Selection, Reporting and Analysis of Genetic Markers Using Broad-Based Genetic Profiling Applications – A method for determining whether an individual has an enhanced, diminished, or average probability of exhibiting a phenotype, or for determining the genomic ethnicity of an individual. The inventors are Martin G. Reese and Charles White.
- 2007/0178500 – Methods of Determining Relative Genetic Likelihoods of an Individual Matching a Population – the title describes the method. The inventors are Lucas Martin and Eduardas Valaitis.
Now, before you get up in arms, let me make a point. Intellectual property is perhaps the most valuable asset most companies possess. Additionally, our patent system has been the model for hundreds of systems around the world and arguably is responsible for much of the success of our country in the last 200 years. If the patents in the list above contain inventions that are useful, novel, and nonobvious, then they are valid and should be respected. If not, then they should be challenged and invalidated.
The text of the DNA Heritage press release is as follows:
DNA Heritage success in patent battle helps keep genealogy DNA test prices low.
DNA Heritage has recently overcome patent claims held by a competitor which would have severely restricted the use of DNA testing and databases that allow families around the world to match and connect up through their DNA. The patent covers the use of surnames and Y-chromosomes to establish a family connection. The UK Intellectual Property Office (UK IPO) has now rendered a formal opinion stating that the relevant claims are all invalid.
Alastair Greenshields, principal of DNA Heritage said “Patents are often needed to provide an incentive for innovative work, but in this case the academic work lacked inventiveness as other researchers had already shown the connection between surnames, Y-chromosomes and family history. This is a great outcome and allows DNA Heritage and other test companies to continue offering these tests and database services to the ever-growing genetic genealogy community without having to raise prices due to royalty payments.”
An infringement challenge from patent assignees Oxford Ancestors, which had been running for over two years, was thwarted when DNA Heritage asked the UK IPO to re-evaluate the patent claims in the light of work by previous researchers. After considering submissions from both parties, an Opinion provided on the 8th April 2008 (with a 3 month review period) found that of the four claims contested, all four were invalid for lack of an inventive step, and one was additionally lacking novelty.
Results from DNA Heritage’s testing using at-home cheek swabs and their accredited laboratory can both be fed into an in-house and public-access Ybase database. These have become invaluable tools for those researching their direct male lineage and surname.
About the company:
Established in 2002, DNA Heritage provides advanced genetic tests to the genealogy community and those tracing their roots. An innovator in providing multi-lab compatible tests and the open-access Ybase database, DNA Heritage enables many genealogists around the world to enhance their families’ research. For more information, visit http://www.dnaheritage.com.





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