Friday, 1 March 2013

Who Do You Think You Are? Live 2013 Days 1 and 2

Who Do You Think You Are? Live, the large family history show held every year over three days at Olympia in London, is now firmly established as the most important event in the genealogical calendar in the UK. I have been to all the shows except for the very first one in 2007 and it has been interesting to see how WDYTYA has evolved over the years. One of the biggest changes has been the increase in the number of overseas visitors, and many of these overseas visitors have come to WDYTYA because of a growing interest in DNA testing. The DNA workshop, sponsored by Family Tree DNA, has been a regular feature of WDYTYA since 2009. A number of dedicated volunteer FTDNA project administrators in America have paid their own air fares and hotel accommodation to attend WDYTYA each year to help out on the Family Tree DNA stand and to educate the British public about DNA testing. ISOGG - the International Society of Genetic Genealogy - has had a presence at WDYTYA since 2010 thanks to the initiative of Brian Swann, the Regional Co-ordinator for England and Wales. The ISOGG stand is manned by volunteers from both England and America, and I have been involved with the ISOGG stand from the beginning.

This year we had a record number of DNA visitors from overseas. I was very pleased to be reunited again with my DNA friends from America: Emily Aulicino, Katherine Borges, Candy Campise, Linda Magellan, Derrell Oakley Teat, Craig Trout, George Valko and Cynthia Wells, all of whom very kindly gave up their free time to help to promote DNA testing by helping out on the ISOGG and FTDNA stands. This year I was delighted to make the acquaintance of five new DNA visitors from the US: Dick Kenyon, Charles Moore, Nora Probasco, Barbara Rae-Venter and Jennifer Zinck. I was particularly honoured to have the opportunity to get to know Charles Moore, who is held in high regard in the world of genetic genealogy. Charles is one of the content experts for the ISOGG Y-SNP tree and is renowned for his work on the haplogroup R1b-U106 project. U106 is the subclade to which my dad belongs, so Charles's work is of particular interest to me. Charles is a wizard with spreadsheets and has the ability to spot patterns in Y-STR markers in order to predict the most downstream subclade. Project members can then order individual SNPs à la carte from Family Tree DNA rather than ordering a more expensive Geno 2.0 test. ISOGG in England was represented by project administrators John and Ann Blair, Sue Curd, Maurice Gleeson and Brian Swann. Chris Pomery, Family Tree DNA's representative in England, was also attending the show and helping out on the FTDNA stand.

I managed to have a very quick chat with Gail Riddell from New Zealand, who runs the New Zealand DNA Project, and project administrator Susan Hedeen from America. I briefly said hello to Carolyn Dyess Bales, one of my friends in the US from the Guild of One-Name Studies, who was attending WDYTYA with her cousin Cammie Dyess Mercer. This was her first trip outside the US, and she had to buy a passport especially for the trip! Another Guild member, Elizabeth Kipp from Canada, was attending with her husband Ed, but in the rush I never managed to meet up with her.

DNA testing has been very much in the news in the last few weeks with the worldwide publicity generated by Richard III. Most conveniently the BBC put out a two-part documentary entitled Meet the Izzards on the Wednesday and Thursday before WDYTYA in which the comedian Eddie Izzard traced the migration of his ancestors out of Africa and into Europe. The combination of Richard III and Meet the Izzards generated a huge amount of interest in DNA testing at this year's WDYTYA and we were all rushed off our feet for the entire three days. Family Tree DNA brought more than double the usual number of kits and sold a record number of tests this year. Some of the tests were on sale at a special show price. The 12-marker Y-DNA test was on sale for just £30. The headline price helped to draw in lots of visitors to the stand but most people chose to opt instead for the 37-marker test at the special show price of £85, though I understand that quite a few 12-marker kits were sold on the Sunday. I would have liked to have taken some photos of the ISOGG and FTDNA stands with all the crowds but I was busy non-stop throughout the show and hardly had the chance to take any photos. I only had a break when I sat down to listen to some of the talks. The FTDNA stand had two large tables with five chairs arranged in front of the stand where people could sit down, place their orders and get swabbed. Those five chairs were occupied almost continuously throughout the three days. There were still people turning up to be tested after the show had officially ended each day. Nora Probasco and I were operating a triage system by talking to the people who were waiting and making sure they understood what the tests were all about and establishing whether or not they wished to place an order. This meant that by the time they got to sit down at the tables they were ready to be swabbed. At some times it got so busy that people had to be taken to the nearby cafe area to place their orders and get the swabbing done.

Max Blankfeld, Family Tree DNA's Vice President of Marketing and Operations, was on his own this year as Bennett Greenspan, the President and CEO of FTDNA, was unable to attend. Max was very grateful for the assistance from all the volunteer project administrators who helped out on the stand. It would have been impossible for FTDNA to attend the show without the help of all the many volunteers who so freely gave of their time.

I was presenting a talk in the DNA workshop at WDYTYA this year for the first time. The subject of my presentation was "DNA for beginners: the different tests". All the seats were taken for my talk on each of the three days and there were people standing four or five deep at the back of the workshop area trying to listen in.
I understand FTDNA had a surge in sales after my talk so I must have been doing something right! I had some very nice positive feedback from one of my Twitter followers Maggie who had attended my talk and then wrote up her experiences in a blog post. I was very pleased to learn that mine was the "most illuminating" of all the presentations she had attended. Most of the talks on Friday and Saturday were similarly packed out with people having to stand at the back, but Sunday was much quieter.

On Friday night the DNA project administrators got together for an enjoyable meal at Pizza Express.

On Saturday I arrived extra early, taking full advantage of my ISOGG exhibitor's pass which allowed me to get into Olympia before the doors opened to the public, to ensure that I got a ticket for Turi King's talk on Richard III. I was not disappointed. She gave a very interesting and entertaining talk. The original aim of the project was to locate the church of the Greyfriars. No one had ever expected to find Richard III and Richard Buckley, the lead archaeologist from the University of Leicester, had famously promised to eat his hat if Richard III were found. The team held him to his word but fortunately for him had a special hat-shaped cake made up specially for him to eat! Turi King explained the painstaking process of testing ancient DNA specimens. The samples have to be tested independently in two separate labs. She did some of the ancient DNA testing in the lab of Professor Michael Hofreiter at the University of York. She then replicated the tests in the lab of Patricia Balaresque at the Université Paul Sabatier in Toulouse. This of course meant a trip across the Channel and Turi described how she had to negotiate customs with Richard III's tooth, terrified that customs would want to open up the package for inspection, thus contaminating the sample and making the whole process worthless. The return journey was even more nail-biting as in order to extract the DNA the tooth had to be ground down into a fine white powder which was guaranteed to raise alarm bells with customs officers! Fortunately she got through customs unscathed, helped by official letters from the University of Leicester. The results of the ancient DNA analysis were only received on the weekend before the press conference. Turi described the moment that the results came through and she saw that there was a match. She went silent for a minute and then did a little dance around the lab!
The ancient DNA analysis will now continue. The next step will be to see if it is possible to extract some Y-chromosome DNA from the remains to compare against the Y-DNA samples obtained from living descendants of Henry Somerset, the 5th Duke of Beaufort, who should share the same Y-DNA signature as Richard III. Turi King is not able to release the details of the Y-chromosome haplogroup of the Beaufort lineage at present. The University has an agreement with Nature and it is planned to publish two papers back to back. Full details of the DNA analysis and the haplogroups will then be given. According to the terms of the agreement the papers have to be submitted to Nature within the next year, though they will of course still have to go through the usual peer-review process.

After Turi King's talk I rushed back to the DNA area to catch the presentation by Bruce Winney on the People of the British Isles Project. The project has now collected 4,300 samples from people in the British Isles with four grandparents born in the same rural county. The researchers have genotyped 2,800 of these samples across 600,000 SNP markers. Strong regional variations have been found with, for example, the people of Devon and Cornwall, forming distinct clusters.  The samples have also been compared with samples from Europe in order to identify the source of the structure seen in the UK.
A scientific paper is in preparation which will be submitted to Nature,  but it will still be a few more months before the paper is ready to be submitted. Once the paper has been published everyone will have the opportunity to examine the stunning maps that were shown to us at Olympia. Little progress seems to have been made on the analysis of the Y-chromosome and mitochondrial DNA data. I also asked about the X-chromosome data but no one has as yet considered analysing that data.

On Saturday I was briefly able to say hello to my friend Princess Maria Sviatopolk-Mirski though she unfortunately arrived at the stand during one of our busiest spells. I was also very pleased to have the opportunity to meet Andrew Millard, a friend from the Guild of One-Name Studies. I had a brief chat with Andy Grierson from Sheffield University, one of the citizen scientists who published an important paper on the phylogeny of haplogroup R1b1a2 based on detailed analysis of public datasets such as the 1000 Genomes Project. He is now working on another interesting collaborative project which will no doubt be the subject of a new paper in due course.

On Saturday night I attended the dinner at Pizza Express organised by the Association of Professional Genealogists. It was good to catch up again with Rosemary Morgan. I was finally able to meet Kirsty Wilkinson who I had known for some time on Twitter but had never actually met face to face. I also briefly chatted with Bruce Durie who I had met over twenty years ago in another life at a pharmaceutical conference in Montreux in Switzerland. By an extraordinary twist of fate we now both share the same publisher in the form of the History Press. Then it was time for the long train ride home and a few snatched hours of sleep before another long day at Olympia on Sunday.

See also
- Who Do You Think You Are? Live Day 3: Alistair Moffat on how DNA is rewriting British history
- Who Do You Think You Are? Live Day 3 Part 2: The new ancient root of the Y-tree

© 2013 Debbie Kennett

Wednesday, 20 February 2013

Bargain-priced 12-marker Y-DNA test for WDYTYA

Family Tree DNA has announced a special low price for its basic 12-marker Y-chromosome DNA test for a "limited time period". The closing date of the offer has not been announced but the sale is timed to coincide with Who Do You Think You Are? Live, the world's largest family history show which takes place this weekend at Olympia in London. I shall be attending this show and helping out on the ISOGG stand (stand no. 400 near the DNA workshop area) so if you have any questions about DNA testing do come along and say hello. I shall also be doing a talk on "DNA for beginners" on all three days of the show as part of the drop-in DNA workshops. I will be explaining in detail the DNA tests that can be used to help with your family history research.

The official press release from GenebyGene, FTDNA's parent company, is given below. It should be noted that the 12-marker test is a low-resolution test. People can often have thousands of 12-marker matches, most of which will not be of any relevance in a genealogical timeframe. However, at the other extreme some people can have no matches at all at 12 markers. The basic 12-marker test will also give you a haplogroup assignment so if you are only interested in knowing your haplogroup this test would be a useful introduction to DNA testing. For genealogical matching purposes the standard entry-level test is now the 37-marker test.

Family Tree DNA Unveils $39 DNA Test in Major Step Toward Universal Access by Individuals to their Own Genetic Data

-- The world's lowest cost genetic test offers an introduction to the insights and knowledge to be gained from personal genetic and genomic research --

HOUSTON,  Feb. 20, 2013
FamilyTreeDNA.com, the genetic genealogy arm of Gene By Gene, Ltd., is dramatically lowering the price of one of its basic Y-DNA tests to  $39, making it the lowest-cost DNA test available on the market, in order to take a major step toward universal access by individuals to their personal genetic data.

By dropping the price of its basic Y-DNA test by 60 percent to  $39, Family Tree DNA -- the world's largest processor of Y-DNA and full mitochondrial sequences -- is working to eliminate cost as a barrier to individuals introducing themselves to the insights and knowledge to be gained from personal genetic and
genomic research.

Family Tree DNA pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago, and has processed more than 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000.

The test investigates specific Y-DNA locations for males that provide individuals with their haplogroup, or the deep ancestral origin of the paternal line.  In addition, it can indicate if different individuals are likely to share a common male line.

Gene By Gene is also working to lower the cost of Family Tree DNA's comparable mtDNA test, which would be applicable to both females and males and provides data on the direct maternal line.  The company expects to unveil new pricing for this test in spring 2013.

As the sponsor [of the] DNA Workshop of "Who Do You Think You Are - Live" in  London this February, Family Tree DNA expects that the reduced price test will add a great number of individuals to its already large database - the largest of its kind in the world.

"We believe the first step to unearthing your personal and family history is to better understand your DNA," Gene By Gene President  Bennett Greenspan said. "That's why we are continuously investing in new  technology and experienced scientists at our Genomics Research Center, enabling us to conduct tests more accurately, efficiently and at lower prices.  Our  $39 Y-DNA test is just the latest example of how we are working to help individuals gain access to their genetic data."

Customer Inquiries
Individuals interested in Family Tree DNA's $39 Y-DNA test, or any of its ancestral testing products, can visit www.familytreedna.com for more information.

About Gene By Gene, Ltd.
Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity.  Gene By Gene provides DNA tests through its  Family Tree DNA  division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago.  Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC  is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide.  Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in  Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact:
Kate Croft
for Gene By Gene, Ltd.
Casteel Schoenborn
888-609-8351
croft@csirfirm.com

SOURCE  Gene By Gene, Ltd.

Wednesday, 13 February 2013

Richard III's malocclusion

The following has been sent to me by Deenagh Reynolds, a dentist who tells me she "put down her drill five years ago":
"I was surprised to find in the coverage of the identification of the remains of King Richard that no reference was made to the relationship in the skull of the upper and lower jaws and teeth. The photograph of the skull shows a mild malocclusion, with the lower jaw slightly more prominent than the upper jaw, the anterior teeth therefore meeting "edge to edge", instead of the much more common relationship where the upper anterior teeth overlap the lower teeth, normally by 2 or 3 mm.

Looking at the portrait of the skull one can see this same property in the profile of King Richard as shown by the artist.

Another tell-tale sign is the unusual wear on the incisive edges of the upper and lower incisors, again proving the characteristic malocclusion, which is variously known as a "mild Angles' Class Three", a "Hapsburg Jaw" and, in more recent times, a Churchillian jaw. It would be interesting to see other portraits of the King in profile, in order to check that this marked facial characteristic is evident.

A prominent chin is quite a strong genetic feature and may be evident in other members of that Royal House."
The Richard III Society held a press conference where they unveiled the specially commissioned facial reconstruction. The video can now be seen on YouTube and this provides the opportunity to view the face from a variety of different angles.

Monday, 4 February 2013

Richard III - a king is found

I have been fascinated by the story of Richard III ever since reading the intriguing historical detective story The Daughter of Time by Josephine Tey many years ago. I was therefore glued to the computer this morning watching the BBC's livestream of the Richard III press conference when the results were announced of the five-month investigation into the findings from the archaeological dig in the now world-famous car park in Leicester. The research has been an extraordinary multidisciplinary effort involving the work of experts in archaeology, history, genetics, osteoarchaeology and engineering. The lead archaeologist Richard Buckley announced to cheers from the world's press that "It is the academic conclusion of the University of Leicester that beyond reasonable doubt the individual exhumed at Greyfriars in September 2012 is indeed Richard the III, the last Plantagenet king of England." The full story can be read in an article on the BBC website entitled Richard III dig: DNA confirms bones are king's.

The University of Leicester has today launched a new Richard III website with further information on the research. There is currently an incomplete page of multimedia resources but it looks as though there will be some very interesting videos added to this page in the days and weeks to come, and we can probably expect to see a video of the full press conference for those who missed it.

Genealogy research was crucial to the investigation. The researchers were able to trace two direct matriline descendants of Anne of York, Richard III's sister, both of whom provided DNA samples for mitochondrial DNA testing.  One of the descendants chose to remain anonymous. The second descendant is a Canadian by the name of Michael Ibsen who is now living in London. The genealogical research was greatly facilitated by earlier research by the historian John Ashdown-Hill, and the line that he established has now been independently verified. An outline of the matriline can be seen here. Professor Kevin Schürer, the University of Leicester's Pro-Vice-Chancellor for Research and Enterprise, discusses the process in this YouTube video:

The full details of the DNA testing have not yet been revealed, so we do not yet have confirmation of the haplogroup and we do not know how much of Richard III's mtDNA could be sequenced. However, Michael Ibsen's mother, the late Joy Ibsen, had her mtDNA tested several years ago and we know that she belongs to haplogroup J, one of the rarer mtDNA haplogroups. Assuming that these earlier results were accurate we can, therefore, infer that Richard III is also haplogroup J. The University of Leicester website includes a stunning electropherogram showing the matching mitochondrial DNA results of Richard III, Michael Ibsen and the anonymous donor. There is already a large haplogroup J project at Family Tree DNA and, once the DNA results are known, it will be interesting to see if anyone in the project matches the Richard III DNA signature. Ideally for genealogical matching purposes we require a sequence of the full mitochondrial genome (all 16,569 base pairs). However, because of the rarity of haplogroup J and all the overwhelming evidence from other sources, a partial match would be sufficient in this particular case. Michael Ibsen and his sister do not have any children and their mtDNA line will, therefore, become extinct upon their death, demonstrating once again how important it is to obtain DNA records while you still have the chance.

The researchers are also hoping to extract some Y-chromosome DNA but this research is still in the early stages, and it will probably be some time before we know if this is possible.

Channel 4 has been following the dig and the subsequent research for the last five months and a programme will be shown tonight at 9.00 pm (UK) called Richard III: King in the Car Park. A preview can be seen here:

I wonder if the exciting discovery of the remains of Richard III will now open the doors for a scientific investigation of the remains of the two skeletons discovered under the stairs in the Tower of London in 1674 which are thought to be the bodies of the Princes in the Tower. The bones were reburied in Westminster Abbey but the Queen and the church authorities have refused previous requests to exhume the bodies.

Update
See this thread on the Genealogy DNA mailing list and a further follow-up thread for a discussion of the mtDNA results.

Update 6 February 2013
The Richard III press conference can now be seen on YouTube.

Update 8th February 2013
James Lick has used his mtDNA haplogroup prediction program to analyse what is known of Richard III's mtDNA sequence. See his blog post "Analyzing the mtDNA of the presumed Richard III skeleton with mthap" and the follow-up blog post in which he suggests that the inferred haplogroup is most likely J1c2c. The J1c2c haplogroup has been confirmed by Dr Turi King in an article published in Science News.

Update December 2014
The scientific paper with the results of the DNA analysis has now been published. See my blog post Richard III and the use of DNA as evidence for further details.

Useful links
The following links might also be of interest:
- Leicester University's Richard III website
- Richard III: The King in the Car Park (Channel 4 website)
- Press release from the University of Leicester
- Press release from the Richard III Society
- The University of Leicester's Richard III Facebook page
The Richard III Society
The University of Leicester's Greyfriars Project website
Live updates from the This is Leicestershire website
Facial reconstruction shows how king may have looked
- Richard III: The twisted bones that reveal a king
- BBC 4 Today interview with the historian John Ashdown-Hill
- The Last Days of Richard III and the Fate of his DNA: the Book that Inspired the Dig by John Ashdown-Hill
- Wikipedia article on the exhumation of Richard III
- Now is the winter of our uncertainty made glorious summer by this sun of journalistic zeal by Julian Champkin

© 2013 Debbie Kennett