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In a way, organ transplantation is the one branch of medicine that has already been personalized, because doctors must carefully match the immune systems of donor and recipient to prevent rejection.
Now transplant physicians in Germany have taken that procedure a step further by engineering not just a successful bone marrow transplant, but one that appears to have cured their patient&#8217;s HIV infection as well. The doctor who conceived the operation has suggested that in principle, the accomplishment could inspire a gene therapy for HIV. But it will take much more research, and a lot of luck, for that to happen.
This week Dr. Gero Huetter and his colleagues at the Charite Hospital in Berlin announced that they were treating a 42-year-old patient who required a bone marrow transplant for leukemia, but had also been HIV-positive for a decade.
The doctors knew of a gene, CCR5, that confers resistance to the most common form of HIV. People who have a particular mutation, known as Delta32, on both copies of CCR5 can be exposed repeatedly to HIV-1 without becoming infected.
The doctors reasoned that if they could find a donor who was not only immune compatible with their patient, but also had two copies of the Delta32 mutation in the CCR5 gene, perhaps they could simultaneously eradicate his leukemia and his HIV infection.
Remarkably, such a donor existed. And 600 days after his bone marrow transplant, the patient is both leukemia- and HIV-free.
Is this a cure for AIDS? Not a chance. Doctors do not consider the procedure a potential treatment for HIV, because bone marrow transplants are expensive and risky – about one patient in four does not survive the procedure. But the case does provide inspiration and hope for researchers who are working on ways to harness the resistance conferred by CCR5Delta32 to treat the infection.

23andMe Blog

23andMe Blog Team

Bone Marrow Transplant May Have Eradicated Patient’s HIV

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The American Society for Human Genetics (ASHG) has released a statement outlining a set of recommendations for genetic ancestry testing.
At a press briefing on Thursday, members of the ASHG Ancestry Testing Task Force Committee discussed two main themes: the need for clear communication about the limitations of genetic ancestry testing, and the need for researchers and companies doing this type of testing to engage with the social sciences to put results in context.

Michael Bamshad of the University of Washington School of Medicine discussed at length the need for people to understand that ancestry assignments based on genetics are inherently uncertain and can be affected by several factors, including the reference populations used in the analysis, the type and number of genetic markers analyzed, and the statistical methods employed.
ASHG president Aravinda Chakravarti further emphasized that questions about the “accuracy” of genetic ancestry testing are aimed at the interpretation of the genetic data, not at the actual DNA analysis.
Task force co-chair Charmaine Royal of the Duke University Institute for Genome Sciences and Policy addressed the committee’s concerns about the psychological impacts of genetic ancestry testing, especially as related to issues of identity.
23andMe Senior Director of Research Dr. Joanna Mountain had a chance to talk with some of the members of the ASHG Ancestry Testing Task force about their statement.
“Members of the panel emphasized to me that their primary goal was to raise a set of concerns around identification of ancestry through genetics,” said Mountain.
“Because several of us at 23andMe were previously aware of these concerns, we developed our ancestry features with those concerns in mind. For instance, we consider a large number of markers for all the chromosomes of the human genome, including the mitochondrial genome. We also avoid being overly precise in reporting an individual&#8217;s ancestry. And we are currently creating educational <a href="https://www.23andme.com/gen101/prehistory/prologue/">tools</a> to help our customers understand how genetic information can be informative about ancestry.”
The speakers stressed several times that their statement was not aimed just at consumer companies offering genetic ancestry testing, but also at academic researchers in the field.
Unfortunately, Mountain said, the ASHG guidelines leave out some of the potential benefits of ancestry genetic testing.
“For instance, ASHG President-Elect Ed McCabe encouraged the audience to ask their family elders about family history over Thanksgiving, as an alternative to learning about ancestry through genetics. But individuals who have signed up for 23andMe&#8217;s service may find themselves far more motivated to discuss family history than they would before seeing their genetic data.”
For a more thorough analysis from a genetic genealogist&#8217;s point of view, click <a href="http://www.thegeneticgenealogist.com/2008/11/13/the-ashg-ancestry-testing-statement-and-recommendations/" target="_blank" rel="noopener noreferrer">here</a>.
McCabe said the statement released this week is a preliminary document. The committee expects to issue a more detailed report in Spring 2009.

ASHG Statement on Ancestry Testing

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When I was 12 years old I did my first <a href="https://en.wikipedia.org/wiki/Punnett_square" target="_blank" rel="noopener">Punnett square</a> and decided that genetics was absolutely, most definitely the coolest thing ever.
When I was 13 years old they started the <a href="http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml" target="_blank" rel="noopener">Human Genome Project</a>. The task of sequencing all three billion base pairs in a person’s genome was the most enormous project I could imagine. And I didn’t even understand you had to cover the whole thing more than once to do it right.
I was just finishing my first year of graduate school when HGP leaders and President Clinton <a href="http://www.ornl.gov/sci/techresources/Human_Genome/project/clinton1.shtml" target="_blank" rel="noopener">announced</a> the working draft of the human genome.
Now I’m 31 and I’ve actually seen my own genetic data through <a href="https://www.23andme.com/" target="_blank" rel="noopener">23andMe</a>.
The totally mind blowing-ness of how quickly things have changed hit me today as I listened to two talks at the <a href="http://ashg.org/" target="_blank" rel="noopener">ASHG </a>meeting in Philadelphia.

First, there was Jun Wang from the Beijing Genomics Institute. He and his colleagues recently published the <a href="https://www.nature.com/nature/journal/v456/n7218/abs/nature07484.html" target="_blank" rel="noopener">first full genome sequence of an Asian individual</a>. The numbers and statistics that he presented were all very impressive, but what struck me most were his descriptions of the logic behind two of his other endeavors, the Tree of Life project that is sequencing various crops and the Giant Panda Project: “Taste good, sequence it” and “Look cute, sequence it.”
Obviously there are good scientific reasons for both of these projects. But can you believe we live in a time where you literally could just sequence something’s genome because it was tasty or cuddly?!
The second talk that really drove home for me what a special genetic era we have entered into was by David Altschuler on behalf of the 1000 Genomes Project. This multi-national public/private endeavor is going to do exactly what its name suggests — targeted sequencing of 1000 peoples&#8217; genomes to create the most complete catalogue of human variation ever.
The implications of the project are huge. But for me, a biologist who vaguely remembers that there was a time when people did science without much computer power or the internet, the craziest thing was when Altschuler put the sheer amount of data the project is producing into perspective: each week in September and October of this year the 1000 Genomes Project created the equivalent of all the data in <a href="https://www.ncbi.nlm.nih.gov/Genbank/" target="_blank" rel="noopener">GenBank</a>. Each week! In 2009 the 1000 Genomes project expects to create 1 petabyte (1,000,000,000,000,000 bytes) of data. For comparison Altschuler said that the <a href="http://public.web.cern.ch/public/en/LHC/LHC-en.html" target="_blank" rel="noopener">Large Hadron Collider</a>, which is expected to create 15 petabyes per year, has had to set up a system of 140 data centers in 33 countries.
Maybe you already know all this and aren’t that impressed anymore. Maybe you’re more concerned with what these and other researchers are actually going to do with all of this sequence data. But for just a second, I want you to think about how cool this all this. What other branch of science has ever moved so fast? One of the guys who discovered the structure of DNA is still around and has had his whole genome sequenced. And someday soon, you may have yours sequenced as well.
Photo: <a href="http://genomics.energy.gov" target="_blank" rel="noopener">U.S. Department of Energy Genome Programs</a>

My Mind Has Been Blown By Genome Sequencing

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The pace of human genetic research shows no signs of slowing. SNP chip technology is allowing researchers to make connections between DNA and disease in ways that were never before possible. Fast, cheap whole genome sequencing, and the avalanche of data it will bring, is just around the corner. And for the first time ever, everyday people can now access their own genetic data and find out what this all means for them.
There has been concern that consumers are not ready for, and may not even want to know about, their genetic data. Several presentations on Wednesday in Philadelphia at the <a href="http://www.ashg.org/" target="_blank" rel="noopener">American Society for Human Genetics</a> meeting, however, indicated that not only are people interested in finding out more about their genetics, they are not nearly as frightened by or naÃ¯ve about genetics as many have thought.
Throughout the talks, the theme of “information seekers” emerged. It seems many people want to know about themselves and are excited about the new genetic technologies becoming available.

Colleen McBride of The National Human Genome Research Institute started off a morning session entitled “Shaping the Future of Personalized Genetic Information — Today” by describing the <a href="https://www.genome.gov/25521052" target="_blank" rel="noopener">Multiplex Initiative</a>, a large, multi-year project that is offering genetic testing to a diverse set of patients from the Henry Ford Health System in Detroit. The aim of the project is to assess whether there are people who are really interested in this type of testing, who these people are and how they understand and respond to this information. The recruitment phase of the project, which offers testing for SNPs related to 15 different diseases and conditions, has just been completed. Approximately 14% of the patients given the opportunity to participate in the project accepted.
McBride said that phone interviews with participants have revealed that they understand the type of information they are receiving indicates only moderate increases in risk. People also seem to be far less deterministic in their thinking about genetics than many have worried. For seven selected conditions people rated behavior as far more important than genetics in determining risk. This was especially so with regard to lung cancer.
McBride was followed by Bob Green from Boston University, who talked about the impact and utility of personalized genomic information in the context of the REVEAL study, which is exploring the social and ethical implications of APOE testing for Alzheimer’s disease.
According to Green, about 25% of the population has one copy of a version of the APOE gene called E4 that puts them at around three times the risk of developing Alzheimer’s disease as someone who has no copies of this variant. The 2% of the population with two copies of this variant have risk that is increased by around 15 times.
Several expert panels have recommended that people not be given information on their APOE E4 status. But Green said his group chose to pursue their research to really find out if this information would be “beneficial or toxic,” as it may one day be useful to know about APOE for research or treatment decisions. He added that there is also the need to know how to respond to people who have a family history of Alzheimer’s in their family and want to know what their own DNA has in store for them.
“It’s patronizing to say we can give the info but we’re not going to,” Green said.
Green’s group found that people who met with a counselor and received their APOE E4 genetic data in addition to a risk assessment based on other factors had the same amount of anxiety or depression as those who received only the risk assessment. In another protocol where people who met with a counselor were compared to subjects who received their results in a mailed brochure, his study also found very little difference in anxiety level. People who found out they were APOE E4 positive and were given only the brochure exhibited slightly increased anxiety six weeks after receiving their results, but not at a level that would be considered clinically significant, Green said.
According to Green, no matter what the genetic results, subjects were glad they had done the test and would recommend it to others. The most dissatisfied subjects in the study were those who were randomized to the group that did not receive genetic information.
The final speaker at the session was Kathy Hudson of <a href="http://www.dnapolicy.org/" target="_blank" rel="noopener">Genetics and Public Policy Center</a> at Johns Hopkins. Her group is investigating how people react to the idea of a <a href="http://www.dnapolicy.org/news.release.php?action=detail&amp;pressrelease_id=113" target="_blank" rel="noopener">large study</a> to investigate the interactions of genes, environment and lifestyle. The theoretical study would recruit 500,000 people who would be followed for a decade. Biological samples would be collected and genetic information would be stored in a centralized database that would then be available to researchers.
Hudson focused her presentation on the question of whether people want to receive their own information back from the study, a practice that is at odds with traditional methods of research. While there were some people who felt they would rather just not know, a commitment from researchers to return results to individual volunteers was a major factor for many people in saying they would participate in such project, even if there was not immediate usefulness of the information.
David Kaufman, the leader of the study Hudson described, spoke in a session later in the day. He presented results showing 84 percent of those surveyed said they would support the proposed large cohort study and 60 percent indicated they would definitely or probably participate in such a study if asked.
Hudson said these results indicate researchers need to rethink their ideas about severing the link between subjects and their data, and reevaluate if their methods really are protecting subjects.

People Want Their Genetic Data

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Like many Americans, Vincent Vizachero knew only bits and pieces about his family history.   He knew, for instance, that his paternal grandfather emigrated to America from Italy in 1914. But because his grandfather died long before he was born, Vincent did not hear a lot of family stories growing up.   So he had to dig them up himself.   In his research, Vincent discovered that many people with his surname seemed to have come from the same small region in Italy.   He wanted to find out if all people with the Vizachero surname are somehow closely related.
The more he dug, however, the more roadblocks appeared in his way.   Three generations of civil and parish records in his grandfather’s hometown from the late 19th century were destroyed during World War II.     There was a gap between 1860 and 1910 where no information existed.
Problems like these often arise with genealogical research. But instead of giving up, Vincent decided to turn to another method – genetics.
As it turns out, Vincent is not alone.   Many genealogy buffs use genetics to enhance their research on family history.   In 2005, a group of genealogists formed the International Society of Genetic Genealogy (ISOGG), kicking off a grassroots effort to incorporate genetic data into the fold of genealogy.   By this time, companies like <a id="oi03" title="Family Tree DNA" href="http://www.familytreedna.com/" target="_blank" rel="noopener">Family Tree DNA</a> had been offering genetic testing for about five years, giving genealogists who had pored over historical records for years a completely new kind of information.

Many used DNA from the Y-chromosome, which is passed from father to son the same way surnames are passed down from one generation to the next.   Communities began to form, taking genetic data and trying to relate it to their own family histories rather than the broader scale addressed by academic researchers.   ISOGG began developing a ‘family tree’ based on genetic data from thousands of Y-chromosomes from hundreds of families around the world.   Some genealogists, like Adriano Squecco, have worked tirelessly to organize these data together into a <a id="x055" title="sharable format" href="http://daver.info/ysub/" target="_blank" rel="noopener">sharable format</a> for anyone to view.
As data from thousands of individuals began rolling in, communities realized that many of the results coming back were quite similar — most people were being classified within very common branches of the Y-chromosome tree.   The people with the most interesting or unique DNA were usually not getting themselves tested.
Instead of waiting for academic researchers to find and genotype these individuals, a few enterprising genealogists, including Vincent Vizachero, decided to take matters into their own hands.   They started a fundraising effort, where people can donate money to buy the 23andMe Personal Genome Service for individuals with potentially interesting or unique genetic ancestry.   At first they tested more people of western European ancestry, to add detail in that already well-known part of the Y-chromosome tree. Now they are focusing their efforts on testing people of African descent, in an attempt to flesh out the genetic ancestry of the notoriously under-studied continent.   The major organizers of the effort have set up a website to keep track of their fundraising, along with periodic updates on their progress.
But why have Vincent and the other organizers chosen <a id="bxu8" title="23andMe’s Personal Genome ServiceTM" href="https://23andme.com/" target="_blank" rel="noopener">23andMe’s Personal Genome ServiceTM</a> , when there are so many different companies that test genetic ancestry?   “The decision was really about cost-effectiveness,” says Vincent.   “23andMe is including over 1,800 usable Y-SNPs for less than $400.   So the 23andMe service allows us to cover a lot of ground much more quickly than any other method of testing would allow.”
In addition, 23andMe allows customers to download their raw data.   While the casual customer may not use this feature, genetic genealogists relish the fact that their raw data is available for them to examine and manipulate.
What&#8217;s more, 23andMe provides other hereditary information that can be of interest to genealogists.   Some are using 23andMe to examine hereditary health and traits issues within their family trees.   And with the Family Inheritance feature, customers can see how various traits have been passed from generation to generation.
For genealogists, a thriving community is vital.   Such communities have been the cornerstone of traditional genealogical research for many years, and the addition of genetic data has only compounded their importance. Genealogists have even been able to contribute to science by helping identify new branches to the genetic family tree.   As their fundraising project continues to gain steam, Vincent and the other project organizers are pleased with the amount of information they have been able to extract, and how important the genealogy community is in fostering its development.   We at 23andMe recognize the importance of working with the genetic genealogy community and ISOGG to provide our customers, and we are thrilled that we can help this community flourish!

Building Roots from the Ground Up:  Genealogy 2.0

When 23andMe launched last November, we set out to make genetics accessible to everyone — not just the experts. &nbsp; So we created a series of education videos called <a id="vzgt" title="“Genetics 101.”" href="https://www.23andme.com/gen101/" target="_blank" rel="noopener noreferrer">Genetics 101.</a>
These videos educated viewers on the basics of genetics: &nbsp; What is a gene, what is a SNP, how genes are inherited from generation to generation, and a host of other useful topics.
But understanding your genetic code is only part of what the <a id="f.ep" title="23andMe Personal Genome ServiceTM" href="https://23andme.com/" target="_blank" rel="noopener noreferrer">23andMe Personal Genome ServiceTM</a> offers its customers. &nbsp;

<h6>Learning</h6>
We also want our customers to understand their genetics in the context of human evolution: &nbsp; How did our species evolve, how did we come to populate the globe, and how can we account for the diversity of peoples living today on our planet?
Those questions are the basis for a new series of videos, dubbed Human Prehistory 101. Using the same creative team as with Genetics 101 (led by chief illustrator <a href="http://arianakilloran.typepad.com/ariana_killoran/" target="_blank" rel="noopener noreferrer">Ariana Killoran</a>), we developed a series of videos that tell the human story, from the birth of our species to present day. &nbsp; The first installment, the Prologue, was released last week on 23andMe’s website.
<h6>The Human Story</h6>
The <a href="https://www.23andme.com/gen101/prehistory/prologue/" target="_self" rel="noopener noreferrer">Prologue</a> sets the stage for the human story, beginning with our closest living relatives, the chimpanzee. &nbsp; We then see how the earliest humans lived in Africa nearly 200,000 years ago, and follow some of our fossil ancestors such as Homo erectus – who ventured into Asia long before we did. &nbsp; We also learn that our evolutionary cousins, the Neanderthals, were not so very different from early humans; they cared for their sick and even buried their dead.
This installment will soon be followed by others, each tackling a key chapter in the evolution of our species. &nbsp; Future videos will explain how and when humans ventured out of Africa for the first time, how they survived the Last Ice Age, and how they came to populate so many parts of the world. So be sure to stay tuned for more Human Prehistory 101!

Human Prehistory 101:  The Newest Video Series from 23andMe!

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Experts estimate that 5% of the United States population – at least 15 million people – have weak spots in the arteries of their brains known as aneurysms. Each year about 27,000 of these bulging arteries burst, releasing blood into the space around the brain and potentially leading to stroke, brain damage or death.
The siblings of people who have had a ruptured brain aneurysm are four times more likely to suffer the same fate, suggesting that genes play a part in determining risk. So far, however, studies of families with a history of a brain aneurysm and genes thought to be likely candidates have failed to produce any convincing genetic links.
A new study published online yesterday in <a href="https://dx.doi.org/10.1038/ng.240" target="_blank" rel="noopener noreferrer">Nature Genetics</a> reports three genetic variants that, when combined, can increase the odds of brain aneurysm by almost three-fold. The variants increased risk independent of sex, family history, and age.

Kaya Bilguvar and colleagues began by screening hundreds of thousands of SNPs in two European samples, one from Finland and one from the Netherlands. They then looked for evidence that the most strongly associated SNPs also increased the likelihood of aneurysm in a Japanese sample. All told, more than 2,100 people with a brain aneurysm and 8,000 controls were studied. The authors say that they used a diverse population for their studies so that the results could be extended to a broader segment of the world’s population.
The researchers found associations between SNPs on chromosomes 2, 8, and 9, and brain aneurysm risk. A person with five or six &#8220;risky&#8221; copies (there are six possible — everyone has two copies of each of the three SNPs) has almost three times greater odds of having a brain aneurysm compared to someone who has zero or only one risky copy.
SNPs in the same region of chromosome 9 as rs1333040 have previously been associated with arterial diseases, including brain aneurysms.
In many cases, the first sign of a brain aneurysm is the catastrophic bleeding in the brain that happens when it ruptures. The authors of the current report caution that further work will be needed in this area and that there are most likely more DNA variants to be found. But they say their findings, in combination with assessment of other risk factors, could help identify people with brain aneurysms before it’s too late.
“Effect” is the increase in odds compared to someone with two copies of the non-risk version of each SNP as calculated in Bilguvar et al for the combined Finnish, Dutch and Japanese sample.

Genetic Links to Brain Aneurysm

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When they eat purines, a class of chemicals that are found in many types of food and most abundant in organ meats and some types of fish and shellfish,, most mammals break them down into a substance called allantoin, which is then excreted.
The only exceptions are humans, great apes and Dalmatian dogs, all of which instead convert purines into uric acid.
That little difference in metabolism can have significant consequences. In humans (and presumably great apes), uric acid can build up in the blood and cause gout, a painful inflammatory arthritis that results from deposition of uric acid crystals in joints. Dalmatians don’t get gout from their uric acid. For them, uric acid crystallizes in their bladders, leading to stones that often have to be removed with surgery.
In humans (and presumably great apes), uric acid can build up in the blood and cause gout, a painful inflammatory arthritis that results from deposition of uric acid crystals in joints. Dalmatians don’t get gout from their uric acid. For them, uric acid crystallizes in their bladders, leading to stones that often have to be removed with surgery.
All pure-bred Dalmatians have the genetic mutation that causes uric acid to build up in their blood, a direct result of years of selective breeding to enhance their characteristic spotty coat.
A new report, published online today in <a href="http://dx.plos.org/10.1371/journal.pgen.1000246" target="_blank" rel="noopener">PLoS Genetics</a>, has finally zeroed in on the mutated gene responsible: SLC2A9.

Coincidentally, but not really surprisingly, variants in SLC2A9 have also <a href="https://www.ncbi.nlm.nih.gov/pubmed/18327257?ordinalpos=1&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum" target="_blank" rel="noopener">recently</a> <a href="https://www.ncbi.nlm.nih.gov/pubmed/18327256?ordinalpos=2&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum" target="_blank" rel="noopener">been</a> <a href="https://www.ncbi.nlm.nih.gov/pubmed/18487473?ordinalpos=3&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum" target="_blank" rel="noopener">linked</a> to uric acid levels and gout in humans. What is a surprising coincidence (at least to me!) is that a human sample used for one of the genomewide association studies that identified the SLC2A9 variants was from the <a href="https://en.wikipedia.org/wiki/Dalmatia" target="_blank" rel="noopener">Dalmatian Islands</a> in Croatia.
There is hope for eliminating high uric acid levels in Dalmatians. The “Dalmatian-Pointer Backcross Project” advocates breeding pure Dalmatians with the offspring of a single Dalmatian-Pointer mix born in the 1970’s. These mixed dogs carry one normal copy of the SLC2A9 gene, inherited from the pointer. Each time a litter is produced from the mating of a pure Dalmatian with a mix, about 50% of the puppies will inherit the normal gene, while the other 50 percent will remain afflicted with high uric acid. Over time, by mating only dogs with the normal SLC2A9 gene, high uric acid levels should disappear.
The Backcross Project has been underway for some time, but until now it has relied on urine tests to identify puppies unaffected by high uric acid levels. Now that the exact gene mutation is known, breeders will be able to more easily identify unaffected puppies. The <a href="http://www.vgl.ucdavis.edu/" target="_blank" rel="noopener">Veterinary Genetics Laboratory</a> at the UC Davis School of Veterinary Medicine will soon be offering DNA testing for SLC2A9 mutations.

Gene Links Gout in Humans with Bladder Stones in Dalmatian Dogs

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Most children have mastered the complexities of spoken language by age six or seven,. But about 5% of otherwise healthy children struggle with either expressing themselves, understanding what others are saying or both, a disorder known as<a href="http://www.asha.org/about/publications/leader-online/archives/2001/sli.htm" target="_blank" rel="noopener"> specific language impairment (SLI)</a>.
In a report published online yesterday by the <a href="http://content.nejm.org/cgi/content/full/NEJMoa0802828" target="_blank" rel="noopener">New England Journal of Medicine</a>, researchers from the Wellcome Trust Centre for Human Genetics at the University of Oxford present evidence that a gene called CNTNAP2 is involved in specific language impairment.
“It has long been suspected that inherited factors play an important role in childhood language disorders,” Simon Fisher, senior author of the study, said in a statement. “But this is the first time that we have been able to implicate variants of a specific gene in common forms of language impairment.”

Several previous studies have linked broad regions of DNA with SLI, but there has yet to be any consensus on the true genetic underpinnings of the disorder.
The researchers narrowed in on the role of CNTNAP2 in SLI because it interacts with FOXP2, another gene implicated in the development of language skills. Some people with rare speech disorders have mutations in FOXP2, but variations in this gene have not been associated with more typical forms of language impairment.
In a study of children from 184 families with at least one child affected by SLI, the researchers found that each G at decreased the score on a test that measures the ability to hear and repeat nonsense words like “brufid” and “contramponist” by 5.53 points on average. Previous studies have indicated that this test is a good indicator of SLI.
Each G also decreased a child&#8217;s score on the standardized Expressive Language Score, which measures the ability to communicate through spoken language, by an average 3.21 points. Scores can range from 46 to 141 for the nonsense word test, and 50 to 150 for the expressive language test. Most children in the general population get a score between 85 and 115 on both.
Variants in the same region of CNTNAP2 as have also been linked to delayed speech in children with autism. Some experts suggest that the different components of autism-spectrum disorders, such as communication problems, impaired social interaction, and repetitive behaviors, could be due to different genetic influences. Fisher and colleagues suggest that alterations in CNTNAP2 could be a shared mechanism for pure SLI and language problems associated with autism.
The research team plans to investigate whether variants of CNTNAP2 are linked to natural variations in linguistic abilities in the general population. They also plan to investigate other genes that interact with FOXP2.
“Genes like CNTNAP2 and FOXP2 are giving us an exciting new molecular perspective on speech and language development, one of the most fascinating but mysterious aspects of being human,” said Fisher. “This work promises to shed light on how networks of genes help to build a language-ready brain.”
In an accompanying <a href="http://content.nejm.org/cgi/content/full/NEJMe0807813" target="_blank" rel="noopener">editorial</a> in NEJM, Karin Stromswold, who was not associated with the research, said that the findings of the British study and others like it could someday help tease apart the genetic and environmental factors that affect language and language disorders. Stromswold questioned, however, why others studies of SLI have never implicated the DNA region where CNTNAP2 is found, even when the same group of children was studied.

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