{"cache":{"posts_f30bc_092c9":{"__typename":"RootQueryToPostConnection","nodes":[{"__typename":"Post","id":"cG9zdDoyMjM5Mw==","databaseId":22393,"featuredImage":null,"author":null,"date":"2015-04-14T09:34:24","uri":"/articles/citizen-scientist","title_b28e9_bf21a":"Citizen Scientist","slug":"citizen-scientist","imageOptions":{"__typename":"Post_Imageoptions","featuredImageSquare":{"__typename":"MediaItem","id":"cG9zdDoyMjQwMA==","mediaDetails":{"__typename":"MediaDetails","sizes_cad4b_bf21a":[{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-150x150.jpg","name":"thumbnail"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-300x300.jpg","name":"medium"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-768x768.jpg","name":"medium_large"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-880x880.jpg","name":"larger"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-271x271.jpg","name":"square_sm"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-372x372.jpg","name":"square_md"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-574x574.jpg","name":"square_lg"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-980x980.jpg","name":"square_xl"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-271x149.jpg","name":"wide_sm"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-372x204.jpg","name":"wide_md"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-574x315.jpg","name":"wide_lg"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote-980x539.jpg","name":"wide_xl"}],"height":1000,"width":1000},"mediaItemUrl":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote.jpg","sourceUrl_772ce_bf21a":"https://blog-api.23andme.com/wp-content/uploads/2015/04/Anne-T-Quote.jpg"},"singleTemplateFeaturedImage":"default"},"categories_3cd3e_bf21a":{"__typename":"PostToCategoryConnection","edges":[{"__typename":"PostToCategoryConnectionEdge","node":{"__typename":"Category","id":"dGVybToxNTQx","name":"Health + Traits","slug":"health-traits","uri":"/category/health-traits","seo":{"__typename":"TaxonomySEO","title":"Health + Traits Archives - 23andMe Blog","opengraphTitle":"Health + Traits Archives","metaDesc":"23andMe's Health + Ancestry Service gives you personalized genetic insights and tools that can help make it easier for you to take action on your health.","opengraphDescription":"23andMe's Health + Ancestry Service gives you personalized genetic insights and tools that can help make it easier for you to take action on your health.","fullHead":"\n\n\n\n\n\n\n\n\n\n\n\n\n\n"}}},{"__typename":"PostToCategoryConnectionEdge","node":{"__typename":"Category","id":"dGVybToxMzU1","name":"Stories","slug":"23andme-customer-stories","uri":"/category/23andme-customer-stories","seo":{"__typename":"TaxonomySEO","title":"Stories Archives - 23andMe Blog","opengraphTitle":"Stories Archives","metaDesc":"23andMe customer stories offer insights from real customers about their experiences exploring what their DNA revealed about them.","opengraphDescription":"23andMe customer stories offer insights from real customers about their experiences exploring what their DNA revealed about them.","fullHead":"\n\n\n\n\n\n\n\n\n\n\n\n\n"}}}]},"content_b28e9_bf21a":"

Along with having some very talented scientists and engineers on staff, 23andMe is lucky to have some customers who are equally accomplished.

$\"Dr.$

Dr. Ann Turner, MD

One of those is Dr. Ann Turner, a 23andMe Ancestry Ambassador and physician. Ann was recently listed as a co-author on a paper published by researchers from the University of Iowa about a genetic variant involved in hearing loss. It turned out to be in a gene that was not even known to be important for the sense of hearing.

“My main contribution was recruiting enough cousins to isolate the segment that must of necessity harbor the mutation,” said Ann.

What’s inspiring is that the impetus for this research was Ann’s own quest to learn about the genetics behind her and her family’s hearing impairment.

Her own hearing loss started in childhood and got progressively worse over time. She’s been wearing hearing aids for 40 years now. Worldwide hearing impairment impacts over five percent of the population, or about 360 million people. Although many different genetic mutations are involved in hearing loss, in this case the researchers were able to isolate a single mutation involved in this one family’s loss of hearing.

Ann’s own personal search of the genetics behind the trait included work going back more than 20 years. She used traditional genealogical techniques to trace hearing loss back 200 years in her family to an ancestor named John Riley, who was born in 1813. One of her relatives, James Riley, a Civil War veteran, died from a fall after failing to hear a warning from a co-worker that the scaffolding he was on was not secure.

$\"This$

This is a pedigree Ann did of her family showing how tracing the mutation through generations of her family.

Beyond paper records and family trees, Ann also used her and her cousins’ 23andMe results to try and track down the genetics behind their hearing condition. She participated in 23andMe’s exome pilot project a few years ago. This allowed her to obtain the sequence data for all the coding regions of all genes, and she was in turn able to use that data to point to candidate mutations possibly involved in her family’s hereditary hearing loss. “Even though this type of testing is not designed to discover rare or novel mutations, I could roughly narrow down the chromosomal region where the mutation must be located,” Ann said. By looking at her and her family member’s data she was able to identify places where only those with hearing loss shared DNA segments.

“It finally boiled down to just one region by the time all of our results were compared. I wrote about this in a blog post for 23andMe,” she said. The candidate mutation is in the HOMER2 gene. Following up on that work, researchers at the University of Iowa did what are called “functional studies” looking at how that specific genetic mutation affected zebrafish and mice in the lab. The researchers initially found that the loss of function of HOMER2 gene caused by this mutation led to changes in hair cells in the lateral line organ of the zebrafish, which detects movement in the surrounding water. In an email Ann sent to the family members who participated in the research she referenced what researchers did next in their study of mice.

“When (the researchers) did a “knockdown” of the HOMER2 gene (made it completely non-functional), the mice developed an early onset hearing loss. It was progressive and started in the high frequencies first, just like our family,” she told her family.

“Our data offer novel insights into gene pathways essential for normal auditory function and the maintenance of cochlear hair cells,” according to the paper’s authors. For Ann the finding was both illuminating for her own family’s condition, but also interesting from her point of view as a scientist. “I have a sense of wonder at how this study illustrates the unity of life, with changes in the lateral line organ in fish confirming the functional effect of the mutation,” she said. Ann adds that other families may be able to use 23andMe tests to help identify the cause of some genetic trait or condition.

For Ann the finding was both illuminating for her own family’s condition, but also interesting from her point of view as a scientist.

“I have a sense of wonder at how this study illustrates the unity of life, with changes in the lateral line organ in fish confirming the functional effect of the mutation,” she said. Ann adds that other families may be able to use 23andMe tests to help identify the cause of some genetic trait or condition.

The candidate mutation is in the HOMER2 gene. Following up on that work, researchers at the University of Iowa did what are called “functional studies” looking at how that specific genetic mutation affected zebrafish and mice in the lab. The researchers initially found that the loss of function of HOMER2 gene caused by this mutation led to changes in hair cells in the lateral line organ of the zebrafish, which detects movement in the surrounding water. In an email Ann sent to the family members who participated in the research she referenced what researchers did next in their study of mice.

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It’s that time of year when family photos start arriving on holiday cards from relatives across the country. Why don’t you do something different this year and $\"11132014_familyDNA_01\"$ create a new kind of family portrait? Make an image that illustrates the traits and ancestry you share with your family that are revealed in your DNA.

We’re hosting a “new kind of family portrait” photo contest where the prize is four 23andMe kits for you and your family! Entering is simple: create a family portrait this Thanksgiving, tag it #FamilyDNA, and share it with 23andMe on Facebook, Twitter or Instagram and get a chance to win. Be sure to tell us why you want to win!

Not sure what kind of photo to share? Take a pic that shows whether you look more like mom or dad. Try to fit the most generations in your photo. Show us where you got that curly hair — from grandma? Bonus points for creativity!

We look forward to seeing your families and to helping you create a new kind of family portrait with DNA!

\n1. Must be a legal US resident age 18 or older; residents of Maryland are not eligible to participate.
\n2. One winner will be selected by a panel of 23andMe employees, from Facebook, Twitter or Instagram photos tagged #FamilyDNA between November 20th and December 1st.
\n3. On Facebook, share your image on our Facebook wall to be eligible: facebook.com/23andMe.
\n4. On Instagram and Twitter: follow @23andMe to be eligible.
\n5. Your image needs to be publicly viewable in order to win.
\n6. We will contact winners via Facebook, Twitter or Instagram, so be sure you’re following, and look for a message from us by December 10th.
\n7. A full list of rules can be found here.\n

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$\"\"$

My surname – Holden – has gone through many incarnations since it originated in England nearly 700 years ago. Letters were added, then dropped. Some branches of my family added an extra “u” in the middle, while others changed the pronunciation entirely. Then, when my ancestors arrived in America over 200 years ago, the name went through a whole new set of changes. It seems my surname has been in a constant state of change since its inception.

But the story of my surname is not unique. Millions of Americans have similar stories about ancestors who, upon arriving in the New World, actively changed their names to sound more “American.” German immigrants named Blum became Bloom, KÃ¼sters became Custers, and KÃ¿fers became Coopers. Immigrants from Italy, Sweden, France, and countless other countries underwent similar transformations. After just a few generations, the original spelling or pronunciation was lost.

Just as our surnames have changed over the centuries, little by little, so too has our DNA. In fact, some regions of the human genome acquire mutations in such a way that researchers can trace the changes back through time — much like tracing a surname back for generations in a family tree. And one region in particular, the Y-chromosome, happens to be passed down from father to son, the same way surnames are inherited in Western culture. That provides a wealth of opportunities for scientists from a variety of disciplines to use the Y-chromosome to unlock history’s secrets, unravel family trees, and even solve crimes.

The Genetic Legacy of the Vikings

The histories of Scandinavia and the British Isles have been entwined since Vikings from Norway and Denmark landed on the eastern coast of England in the year 792. Successful raiding parties eventually led to settlements along the eastern half of England. Today there are remnants of Viking settlements in this region in the form of place names, unique vocabulary, and even surnames. Last year, British geneticists took surname information from an area formerly settled by Vikings to see if men living there today who had Scandinavian surnames also had evidence of Scandinavian (aka Viking) genetic ancestry. They analyzed the Y-chromosomes of several hundred men, and, not surprisingly, found that those with Scandinavian surnames did indeed have Scandinavian DNA, at least on the Y-chromosome. Similar studies of Irish men have also found a modest connection between surnames and Y-chromosome types.

Surname DNA Projects

As we reported several weeks ago, the field of genealogy has been invigorated by the increasing use of genetic testing to fill in the missing branches of a person’s family tree. Genealogists are now comparing their Y-chromosomes to those of others with the same surname, to see if a shared surname is also an indication of the shared ancestry. Within the past few years, surname DNA projects have sprung up all across the world – with hundreds of genetic genealogists digging deep into their genes as they piece together their detailed family trees.

Surnames and Forensics

By far one of the most interesting applications for surname and Y-chromosome comparison is in the field of forensic science. In 2006, British geneticists found that — for some of the more rare surnames such as Maloy or Rivis, there was a strong connection between surname and Y-chromosome haplogroup. The authors reasoned that, if DNA were to be recovered from a crime scene, forensic investigators might be able to narrow down the possible perpetrators to a specific subset of surnames.

However, there are several limitations to this idea — namely the fact that most men in the UK have rather common surnames, such as Smith, Green, and Adams. Men with these surnames have a wide range of Y-chromosome DNA types, so it would nearly impossible for investigators to use the Y-chromosome to locate a suspect. However, on principle this idea has merit, and further advances along these lines may someday allow investigators to exploit the DNA-surname connection.

One final note: 23andMe customers need not worry that their data will be used in this way – our research database does not include surnames and our terms of service do not allow us to share data with law enforcement unless we are legally compelled to. And even if such a situation did arise, we have publicly committed to resisting legal requests for customer data.

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$\"\"$

People naturally yearn to know where they came from. Genealogists scratch that itch by poring over historical documents such as vital records, tax rolls, census lists and diaries to reconstruct their family history.

In recent years, genealogists have also begun using genetic information as another way of understanding their identity and establishing kinship. With the growth of several genetics companies specializing in genetic ancestry — including 23andMe’s Personal Genome Serviceâ„¢ — genealogists now have an entirely new approach to use in tracing their roots. DNA is especially useful for recent immigrants, Native Americans or African-Americans whose ancestors left few historical records, but passed down a trail of genetic breadcrumbs that can lead back to a specific geographic region — and in some cases even a particular tribe.

The growth of genetic ancestry services, combined with the availability of resources on the internet, has also led many genealogists to share their stories and connect with others. Now Roots Television is adding viral video to the modern genealogist’s tool box. Roots Television markets itself as a video-based genealogy website, created for and by avid genealogists and family history lovers. They create online web shows on a variety of topics, while also licensing other programs. A recent glance at their programming line-up revealed a brief video on the art of document restoration, interviews with well-known genealogists, and reviews of new genealogy computer software. There is even an area of the site dedicated to user-submitted video, called RootsTube. Here, anyone can tell their story – whether it is an interesting discovery about their family history, a family reunion video, or even a tip on how to best utilize a particular genealogy resource.

So far there isn’t much content related to genetic genealogy, but the website is still in its infancy; we hope to see more genetics-related content over time.

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genealogy

Citizen Scientist

A New Kind of Family Portrait

What’s in a Name: Surnames and the Y-Chromosome

Roots Television: The Internet TV Channel for Genealogists

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