Making genetics education fun and accessible has been core to our mission since we launched in 2007.
<h2>Genetics for All</h2>
Understanding our genome is <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22084" src="https://blog-api.23andme.org/wp-content/uploads/2015/01/Anne_Color_-Seated-250x300.jpg" alt="Anne_Color_ Seated" width="250" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-250x300.jpg 250w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-768x923.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-852x1024.jpg 852w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-732x880.jpg 732w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-982x1180.jpg 982w" sizes="auto, (max-width: 250px) 100vw, 250px" />possibly the most exciting scientific discovery of our lifetime, and it is a scientific experience we should all be able to enjoy and participate in.
At 23andMe, we believe anyone can learn about and understand genetics and that it should be fun for people of all ages and education levels.
<h2>A Family Tradition</h2>
My passion for education comes from my parents, who are educators.  My father is a particle physicist, and my mother is a high school journalism teacher.
I saw firsthand how hard it was for the physics community to explain what they do and show people why it is meaningful. At the same time, I saw my mother take complicated concepts and get high school students to learn and write about them. Together, they taught me that anyone can learn any subject.
Learning about your genetics is a personal experience and helps people understand why they are the way they are.
<h2>New Tools</h2>
Over the last seven years, the tools created by 23andMe have been used in classrooms of all sorts, from kindergarten teachers using our children’s book to explain DNA to medical schools developing whole curricula off our health reports.  It’s thrilling and exciting to see all ages learning about genetics and how it impacts their life.
We are eager to engage more proactively with you, the educator, in the coming years.
We are committed to creating a place where educators can learn and discuss genetics. We will continue to provide tools for you to use.  We welcome your feedback and suggestions. We promise to continue developing a robust site for the education world.
We look forward to being your partner as the genome is decoded and genetics becomes increasingly important in our lives.<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-23161" src="https://blog-api.23andme.org/wp-content/uploads/2015/10/sig_small_transparent-300x125.jpg" alt="sig_small_transparent" width="300" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/sig_small_transparent-300x125.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/sig_small_transparent.jpg 318w" sizes="auto, (max-width: 300px) 100vw, 300px" />

23andMe Blog

23andMe Blog Team

A Note to Educators from Anne

23andMe made some <a href="https://mediacenter.23andme.org/?p=1989" target="_blank" rel="noopener noreferrer">news today</a>, with the launch of a new experience for customers that includes the first and only direct-to-consumer <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23064" src="https://blog-api.23andme.org/wp-content/uploads/2015/10/23andMe_Box_121013_1-300x173.jpg" alt="23andMe_Box_121013_1" width="300" height="173" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/23andMe_Box_121013_1-300x173.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/23andMe_Box_121013_1-768x443.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/23andMe_Box_121013_1-1024x591.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/10/23andMe_Box_121013_1-880x508.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/23andMe_Box_121013_1-1180x681.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />genetic service that meets U.S. FDA standards.
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We invested nearly two years of work conducting extensive user testing, working with regulators, scientists, physicians, and top product design experts.  Most importantly, we talked to 23andMe customers about how we could improve functionality, comprehension and create tools to improve your experience.


Take a look at our <a href="https://www.23andme.org">homepage</a> to get a sense of how 23andMe is redefining how genetic information is delivered to people.
We are working to transition our existing customers to the new experience as quickly as possible, but some of that transition is dependent on validation and local requirements.
New customers can expect to begin receiving results within six to eight weeks of returning their samples to our lab.
On the blog in the coming months, we&#8217;ll highlight some of what customers will see in the new product and explore some of the new offerings including new carrier status* reports, <a href="https://www.23andme.org/dna-health-ancestry">wellness reports</a>, information about traits and ancestry, as well as updated tools for exploring more aspects of their own genetic information.
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Existing customers will receive an email about the transition with links of where to go if they have questions. In the meantime, customers can go here for answers to some of the more frequently asked questions.


As 23andMe co-founder and CEO, Anne Wojcicki said today,  “This is an incredibly dynamic time in genetics and we’re excited to be at the leading edge of bringing genetics directly to individuals as they begin to learn about their 23 pairs of chromosomes.”


Stay tuned for more to come.
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*Our tests] can be used to determine carrier status in adults from saliva collected using an FDA-cleared collection device (Oragene DX model OGD.500.001), but cannot determine if you have two copies of the genetic variant. Each test is most relevant for people of certain ethnicities. The tests are not intended to diagnose a disease or tell you anything about your risk for developing a disease in the future. On their own, carrier status tests are not intended to tell you anything about the health of your fetus, or your newborn child’s risk of developing a particular disease later in life.

A New 23andMe Experience

Growing up 23andMe’s chief science officer Richard Scheller, Ph.D., had classmates in his elementary school, who wanted to be a firemen, police officers and astronauts.
Richard always wanted to be a scientist.
<div id="attachment_22312" style="width: 305px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22312" class="size-full wp-image-22312" src="https://blog-api.23andme.org/wp-content/uploads/2015/03/Headshot-Richard-Scheller.jpg" alt="Dr. Richard Scheller" width="295" height="197" />Dr. Richard Scheller</div>
“My classmates had posters of rock bands or cars on the walls in their bedrooms,” he said. “I had the periodic table of the elements.”


That singular focus and a lifetime of scientific accomplishments was recognized this week when Dr. Scheller was named to the<a href="http://www.national-academies.org/"> National Academy of Medicine</a>.


“I’m honored to join such a prestigious group of scientists,” Dr. Scheller said after learning of his nomination.


Considered one of the highest honors in the field of health and medicine, membership to the academy is given to those recognized for outstanding professional achievements who also have had a commitment to service. More than 300 of its members are also Nobel laureates.
For Dr. Scheller, membership adds to the long list of accomplishments he’s made over his distinguished career that includes achievements not just in business, but in academia and research.
Dr. Scheller joined 23andMe to lead the new therapeutics group, which is tasked with leveraging the company’s innovative research model to find and develop new treatments for diseases. When he came on board, 23andMe’s president Andy Page, noted how fortunate the company was to have him, calling Dr. Scheller a “visionary.”  
Even in his short time with the company,  Scheller and his team have made great progress, Page said.
Before coming to 23andMe, Dr. Scheller served as executive vice president for research and early development at Genentech for almost 15 years. Prior to that he spent almost two decades at Stanford University serving as a professor in the Department of Biological Sciences and in the Department of Molecular and Cellular Physiology as well as working as an investigator at the Howard Hughes Medical Institute at the Stanford University Medical Center.
Two years ago, Dr. Scheller received the Albert Lasker Basic Medical Research Award for his discoveries concerning the molecular machinery and regulatory mechanism that underlie the<a href="http://blogs.nature.com/spoonful/2013/09/lasker-awards-go-to-rapid-neurotransmitter-release-and-modern-cochlear-implant.html"> rapid release of neurotransmitters</a>. Considered one of the most respected science prizes in the world, the Lasker Award is sometimes referred to as “America’s Nobel.”
Last year, Dr. Scheller received a CalTech Distinguished Alumni Award for his work, and in 2010 he received a<a href="http://www.kavliprize.org/prizes-and-laureates/laureates/richard-h-scheller"> Kavli Prize</a>, and he has a U.S. National Academy of Sciences Award in Molecular Biology.
Along with now being part of the National Academy of Medicine, Dr. Scheller is also a member of the National Academy of Arts &amp; Sciences, and the National Academy of Sciences.
He serves on the board of trustees for the California Institute of Technology and as an adjunct professor in the Department of Biochemistry and Biophysics at the University of California, San Francisco. He has published more than 280 research studies.

Richard Scheller Named to National Academy of Medicine

In what is by far the largest genome wide association study on the common skin condition eczema, researchers led by a team at the University of Bristol in the <img loading="lazy" decoding="async" class="alignright size-medium wp-image-2604" src="https://blog-api.23andme.org/wp-content/uploads/2009/01/itchy-300x222.jpg" alt="itchy" width="300" height="222" />UK, have identified new genetic variants associated with the ailment, as well as new evidence that the condition is strongly associated with some autoimmune diseases.


Eczema, also known as atopic dermatitis, is very common. By some estimates, it affects as many as one in five children and one in 30 adults.  While it has been long known that genetics plays a large role in whether or not someone develops the condition, researchers are still trying to determine the genetic variants underlying eczema. This study not only identifies additional genetic contributions to the condition, but it also sheds more light on the biology behind its development. 


The <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3424.html" target="_blank" rel="noopener noreferrer">study</a> – a meta analysis that pooled together a massive amount of data from researchers doing work at more than 100 institutions across the globe, including 23andMe – was meant to collect data from as many genome wide association studies on eczema as possible. The researchers were able to gather data from 26 different studies involving more than 115,000 people both with eczema and those without it. More than half of those were 23andMe customers who consented to research.
The finding was replicated using data from more than 260,000 people, almost 90 percent of whom were 23andMe customers who consented to research.
The analysis involved looking at more than 15 million genetic variants in all, and from that work the researchers were able to not only identify 16 known genetic variants – 11 in Europeans and five in Japanese – but also uncover another 11 variants that were previously not known to be associated with eczema. All of the newly found variants are in genes or gene regions related to immune regulation, specifically T-cell activation.
This points to a substantial genetic overlap with other inflammatory and autoimmune disease such as inflammatory bowel disease.
Previous research identified the importance of expression of filaggrin – proteins that bind keratin fibers in the skin – in the development of eczema. Variants in the filaggrin gene (FLG) can lead to something called a “barrier defect” in which the skin becomes more permeable and susceptible to eczema. Studies have shown that four variants in the FLG are present in between<a href="https://www.ncbi.nlm.nih.gov/pubmed/21173567"> a quarter and one half of people with eczema.</a> Those four known variants were again confirmed in this study.
“There is longstanding evidence that skin barrier defects and inappropriate immune responses to environmental antigens contributes to (eczema),” the authors said. “However, evidence for autoimmune mechanisms in (eczema), in particular in the context of progression to the chronic phase, has only recently emerged.”

Genetics found to influence eczema risk across multiple ancestries

DNA has been described as both a recipe for life and a record of it, and computational biologist John Novembre – who recently received a MacArthur Foundation “genius grant” for his work – is showing just how powerful melding those two elements together can be for scientists.

<div id="attachment_23026" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23026" class="size-medium wp-image-23026" src="https://blog-api.23andme.org/wp-content/uploads/2015/10/Novembre_2015_hi-res-download_2-300x243.jpg" alt="John November Photo Courtesy: John D. &#038; Catherine T. MacArthur Foundation" width="300" height="243" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Novembre_2015_hi-res-download_2-300x243.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Novembre_2015_hi-res-download_2-768x623.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Novembre_2015_hi-res-download_2-880x714.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Novembre_2015_hi-res-download_2.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />Photo Courtesy of the John D. &amp; Catherine T. MacArthur Foundation</div>
Novembre, who we first wrote about seven years ago, was recognized for his innovative research that used aggregated genetic information to create “genetic maps” of Europe, and he also lead a team that studied the recombination rates in admixed individuals, particularly African Americans.
Using what we know about recombination rates, he has been able to pinpoint when rare genetic variants emerged in human populations.
23andMe population geneticist Kasia Byrc, who was a co-author on Novembre’s “Genes Mirror Geography in Europe” paper said she liked that there is often a strong geographic component to his work.


“A lot of his work is focused on understanding the geography of genetic variation, and in turn, learning about what a population&#8217;s history was based on looking at the present-day genetic patterns. He&#8217;s also a brilliant computational biologist.”


While at UCLA Novembre developed ADMIXTURE, an ancestry-estimation algorithm that powers some genetic ancestry testing company’s results. The algorithm took what was previously an innovative, but computationally slow method – called STRUCTURE – and created a much faster algorithm to make these estimations possible with very large and rapidly-growing datasets., Kasia said.


His work is improving scientists’ ability to estimate recombination rates within admixed populations. This is helping researchers understand how genetic material gets shuffled up before it gets passed on to the next generation.
But beyond insights about ancestry, Novembre’s detailed study looking at the introduction of rare and damaging genetic variants into the human genome will add to our understanding of the genetics of certain disease and how it differs among different populations.
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Mapping It Out

We&#8217;ve been busy over the last two years, and it shows. <img loading="lazy" decoding="async" src="https://blog-api.23andme.org/wp-content/uploads/2015/10/anne-wojcicki-cover-228x300.jpg" alt="anne-wojcicki-cover" class="alignright size-medium wp-image-22990" width="228" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-228x300.jpg 228w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-768x1008.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-780x1024.jpg 780w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-670x880.jpg 670w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-899x1180.jpg 899w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover.jpg 1000w" sizes="auto, (max-width: 228px) 100vw, 228px" />
Forbes writer <a href="https://twitter.com/matthewherper" target="_blank" rel="noopener noreferrer">Matthew Herper</a> has a nice take on what we&#8217;ve been up to and where 23andMe is at in the regulatory process.
He also does a balanced job of explaining what prompted the FDA to send a warning letter to 23andMe in the first place.
Early this year 23andMe became the first and only direct-to-consumer genetic testing company to receive clearance for one of its reports, and Herper puts that into context, as well as going into some detail about the power of 23andMe&#8217;s research and therapeutics efforts.
This has been a good year, or as our CEO and co-founder Anne Wojcicki told Herper:
&#8220;Two thousand fifteen was better than 2014 and 2013. Without a doubt.”
Stay tuned for more from 23andMe very soon. In the meantime take a look at the <a href="https://www.forbes.com/sites/matthewherper/2015/10/14/23andme-prepares-a-comeback-raising-115-million-at-a-1-1-billion-valuation/" target="_blank" rel="noopener noreferrer">article</a>.

What a difference two years makes?

Everybody makes mistakes, and that goes all the way down to the molecular level.<img loading="lazy" decoding="async" src="https://blog-api.23andme.org/wp-content/uploads/2015/10/advanced-chemistryprize20152.jpg" alt="advanced-chemistryprize2015(2)" class="alignright size-full wp-image-22970" width="296" height="297" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/advanced-chemistryprize20152.jpg 296w, https://blogcms.23andme.com/wp-content/uploads/2015/10/advanced-chemistryprize20152-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/10/advanced-chemistryprize20152-271x271.jpg 271w" sizes="auto, (max-width: 296px) 100vw, 296px" />


This week, three scientists working on their own over the last four decades were awarded the <a href="http://www.kva.se/en/pressroom/2015/the-nobel-prize-in-chemistry-2015/">Nobel Prize in Chemistry</a> for their contributions to our understanding of how those mistakes happen and how our cells repair the errors and damage in our DNA.
The Royal Swedish Academy of Sciences recognized <a href="http://www.crick.ac.uk/research/a-z-researchers/emeritus-scientists/tomas-lindahl/">Tomas Lindahl</a>, <a href="http://www.hhmi.org/scientists/paul-l-modrich">Paul Modrich</a> and <a href="http://www.med.unc.edu/biochem/people/faculty/primary/asancar">Aziz Sancar</a> for their contribution to our understanding of the mechanics of DNA repair.
“Their systematic work has made a decisive contribution to the understanding of how the living cell functions, as well as providing knowledge about the molecular causes of several hereditary diseases and about mechanisms behind both cancer development and aging,” the Royal Swedish Academy of Sciences, which awarded the prize, said in a statement.


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To grasp the significance of their work, it helps to understand a little bit about what happens when our cells divide, and all the chromosomes are copied and the DNA replication kicks into gear.
While it’s a pretty perfect process, mistakes happen. Instead of adenine always pairing with thymine, and guanine always pairing with cytosine – your ATGCs – sometimes there are mismatches. Errors also occur because one of the bases in a pair might degrade in a way that a base can’t pair properly. Finally, the assault of everyday life – from exposure to carcinogens, to too much ultraviolet radiation or the occasional donuts – can damage DNA and make two bases bind to each other incorrectly.


Fortunately our bodies have mechanisms to fix most of that, and it&#8217;s the work of Lindahl, Modrich and Sancar that has helped us understand the different aspects of the repairing process.
It was Lindahl’s work in the 1970s that laid the foundation. He also identified the enzyme that is integral in the repair process.
Sancar’s work looked specifically at nucleotide excision pair, or how damage from things like ultraviolet radiation and carcinogens is fixed. And Modrich’s work dealt specifically with mismatch repair, how the errors are detected and then fixed.


Understanding the process, particularly when the repair process itself is somehow broken, can lead to the development of treatments for hereditary diseases or cancers.

Nobody’s Perfect

As federal regulators listened, patients told them of their symptoms – the sleepless nights, the days with uncontrollable tremors or the little struggles simply maintaining their balance.
<div id="attachment_22379" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22379" class="size-medium wp-image-22379" src="https://blog-api.23andme.org/wp-content/uploads/2015/03/paul_bw-200x300.jpg" alt="Paul Cannon" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />Paul Cannon, 23andMe&#8217;s Parkinson&#8217;s Disease Program Manager.</div>
Some of those with Parkinson’s who spoke at the special U.S. Food and Drug Administration meeting in late September said they depended on drugs like Sinemet or therapies like deep brain stimulation to treat their symptoms. But they also noted that the randomness, variability, and unpredictability of their symptoms – and the side effects of treatments – have kept them constantly looking for more effective ways to deal with their Parkinson’s disease.
<h2>Hearing from Patients</h2>
Part of a series called the<a href="https://www.fda.gov/forindustry/userfees/prescriptiondruguserfee/ucm368342.htm"> Voice of the Patient</a>, which has included other meetings on topics such as breast cancer, sickle cell anemia, and HIV, the half-day session included input from dozens of individuals living with Parkinson’s and their caregivers, as well as overviews from the regulators. Hearing directly from those living with the disease and using treatments is a fresh approach.
“We strongly believe that the patient perspective is key to understanding how to approach and manage a disease and the development of new treatments,” said Paul Cannon, 23andMe’s Parkinson’s Disease Program Manager.
<h2>Unpredictability of Some Symptoms</h2>
One of those patients speaking at the session was Karl Robb, 48. Karl, who was diagnosed with Parkinson’s at 25, told the panel that it’s the unpredictability and severity of the symptoms that make it so difficult to live with the disease. He deals with it the best he can, maintains a healthy lifestyle, and swears by his vegetarian diet. But like many, he communicated the struggles of dealing with an ever-changing landscape of symptoms and the need for better drugs to battle back the effects of the disease.
Other patients echoed many of Karl&#8217;s points. They spoke about having to continually adjust their medicine based on how the disease progressed and their symptoms changed.
<h2>Drug Side Effects and Effectiveness</h2>
Often, patients said a drug lost effectiveness over time or triggered side effects that became more and more of a concern. For instance, Daniel Lewis, who was diagnosed with Parkinson’s disease 21 years ago, said that after taking Sinemet for eight years, he began to develop bad dyskinesia. While deep brain stimulation helped, it doesn’t address his speech and sleep problems, he said.
This was the kind of feedback that the FDA was after when the first started having these meetings. Officials at the agency said they realized that some of the best “data” on treatments and drug development comes directly from patients.
<h2>23andMe PD Research</h2>
In part, that is what drives 23andMe’s research model, where we invite individuals to participate in research. At the FDA meeting, our Paul Cannon drove that message home and shared with the agency some of the value of 23andMe’s online disease community and our own data from patients who have shared their experience with Parkinson’s.
Paul also spoke at the meeting and posted a<a href="https://blog-api.23andme.org/wp-content/uploads/2015/09/White-paper-for-FDA-PD-meeting-public-docket-Final.pdf?_ga=1.61852908.11442988.1396887568"> 23andMe white paper</a> summarizing findings from the 23andMe<a href="https://www.23andme.org/pd/"> Parkinson’s Disease Research Community</a> to the public docket.
23andMe now has the largest community of genotyped Parkinson’s patients, with more than 11,000 participants. These participants have not only been genotyped but also participate in surveys that track the progression of the illness, symptoms, and reactions to medication. The nature of the online community allows 23andMe to conduct research quickly and effectively, and it allows those with Parkinson’s who would otherwise be unable to participate in traditional research to become part of it.
<h2>What We&#8217;ve Learned So Far</h2>
What 23andMe researchers have learned from our Parkinson’s community includes a lot of important baseline kind of information such as the symptoms that have the greatest impacts on their lives – disturbed sleep, fatigue and pain – and how well their medication works throughout the day. There’s also a lot of information collected by 23andMe that helps put into perspective how isolating Parkinson’s can be for some patients and how it impacts their lives. For many, in fact, a majority of those surveyed, the self-reported impact of the disease on their quality of life on their excellent days was none too slight. This may reflect the relatively short duration (average 4 years from diagnosis) of the 23andMe cohort, but even so, this drops to less than half on their bad days, and a significant majority report an impact of the disease on family and social interactions.
According to the 23andMe findings, more than 80 percent of research participants said that current treatments work well or moderately well to handle their symptoms. Yet almost a quarter of participants reported that medication was effective only about 50 percent of the day or less, and significant numbers complained about wearing off (leading to a requirement for frequent dosing), lack of efficacy against specific symptoms, and bothersome side effects.
<h2>Learning from those with PD</h2>
Individuals living with Parkinson’s disease are all too aware that it is a progressive disorder, and in a response that was also stated several times at the FDA meeting, almost 80 percent of participants in 23andMe Parkinson’s Research Community said they want new treatments to slow or stop the progression of the disease.
This is the world that many of those living with Parkinson’s live in, one that includes hopes for the future, but also fears about how their illness will progress and whether current medication will remain effective.
Rebecca Houde, who spoke at the FDA meeting, said worries about her future. Only 33, she was first diagnosed at 24. She’s undergone deep brain stimulation surgery, has dealt with increasingly severe dyskinesia and has had some cognitive difficulties. To cope with some of her symptoms she takes small doses of Sinemet every hour and is also taking 14 other medications. All that leaves her wondering about how to stay ahead of her symptoms.

Patients Perspective on Parkinson’s Disease

One of 23andMe’s newest scientists, Adam Auton, had his first day on Monday, and by Wednesday had two new <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22941" src="https://blog-api.23andme.org/wp-content/uploads/2015/10/1BfAtIZM_400x400-300x300.jpeg" alt="Adam Auton" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/1BfAtIZM_400x400-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/1BfAtIZM_400x400-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/10/1BfAtIZM_400x400-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2015/10/1BfAtIZM_400x400-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2015/10/1BfAtIZM_400x400.jpeg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />papers on human genetic variation published in the journal Nature.


Not a bad first week of work.
“It’s been a busy few days,” Adam said.
The research on the papers was not done at 23andMe, of course, but it adds some important tools for scientists working here and elsewhere studying human genetic variation.
The papers actually cap eight years of work by the<a href="http://www.1000genomes.org/"> 1000 Genome Project Consortium</a>, which over that time collected sequence data, exome and other genetic data to catalog genomic differences among people and in turn offer up those reference datasets for researchers studying the genetics of disease, traits and other conditions.

In the end the consortium, which included scientists from all over the world, sequenced the genomes of more than
<div id="attachment_22942" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22942" class="size-medium wp-image-22942" src="https://blog-api.23andme.org/wp-content/uploads/2015/10/nature15393-f1-300x219.jpg" alt="Population sampling illustration from the paper in Nature. This shows the variation within different global populations. African populations have the most variation among all populations in the world." width="300" height="219" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/nature15393-f1-300x219.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/nature15393-f1-768x561.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/nature15393-f1-880x643.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/nature15393-f1.jpg 946w" sizes="auto, (max-width: 300px) 100vw, 300px" />Population sampling illustration from the paper in Nature. This shows the variation within different global populations. African populations have the most variation among all populations in the world.</div>
2,500 people from 26 populations worldwide. The final papers from that effort have just been published, and Adam was senior author of the main study paper. The effort created a new and more robust<a href="https://www.nature.com/nature/journal/v526/n7571/full/nature15393.html"> reference for human genetic variation</a>, and<a href="https://www.nature.com/nature/journal/v526/n7571/full/nature15393.html"> mapped the structural variants</a> among those reference populations. It is now the largest publicly available catalog of human genetic variation in the world.
&#8220;The project has been an international effort to build a reference dataset of genomic variation,” said Adam, who before joining 23andMe was an Assistant Professor of genetics at Albert Einstein College of Medicine in New York City. “It really tells us about the structure of human genomic variation and diversity.&#8221;


Humans are almost 99.9 percent similar genetically, but because the genome is so vast that small genetic variation makes all the difference. Of the roughly 3 billion base pairs, differences are found in somewhere between 4 and 5 million locations. Percentage wise it is very small, but it’s enough to make a big impact, and learning more about where people and populations differ genetically can give us much more insight into the genetics of disease.


The project – more than 400 other scientists also worked in some form on the research – found about 88 million sites in the human genome where there is significant variation. That’s about 40 percent more variants than were previously known in humans, according to the researchers. Many of those sites likely have no significant impact, but others do and they may help researchers looking at both common and rare diseases, as well as other human traits.


For Adam what’s most interesting is what comes next.
It’s now 25 years since the Human Genome Project, but it’s really only in the last five to ten years that we’ve had the robust technologies to truly “do genomics,” Adam said.  
“The 1000 Genome Project has laid the foundation for others to answer really interesting questions.”

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