There are many faces of Parkinson’s, Claudia’s just happens to be smiling most of the time.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23733" src="https://blog-api.23andme.org/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg" alt="PD Infographic Top" width="244" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg 244w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-768x946.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-831x1024.jpg 831w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-714x880.jpg 714w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-958x1180.jpg 958w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top.jpg 1010w" sizes="auto, (max-width: 244px) 100vw, 244px" />
“I’m an optimistic person,” said the mother of two teenage boys who lives with her family in Illinois.


She’s also one of the 11,000 people with the disease that make up <a href="https://www.23andme.org/pd/">23andMe’s Parkinson’s Research Community</a> – individuals who participate in a new kind of crowd-sourced science.
To mark Parkinson’s Awareness Month, we’re highlighting Claudia’s story in part because of who she is, but also because of what motivated Claudia to join the community in the first place, and what keeps her engaged and optimistic about the future.
Most of us are not scientists or researchers, but we can play a role in our health by being engaged, educated about the disease, and willing to contribute to research.
As Claudia says:


“If I have the opportunity to do something right now, why wouldn’t I?”
It’s people like Claudia, who have helped 23andMe create the world’s largest cohort of genotyped Parkinson’s patients. This community has powered important research from the beginning, first helping to replicate known genetic associations for Parkinson’s and then helping researchers find never before seen associations.
23andMe’s Parkinson’s Research Community is unique because it enlists people as partners in research instead of looking at them as subjects. For those with Parkinson’s – some of whom live away from major centers of research or are physically unable to travel to those centers – 23andMe’s Research community has allowed them to easily contribute from the comfort of their own homes.
For Claudia her diagnosis in 2010 surprised her and left her frightened, and unsure.
“Parkinson’s disease entered in our home uninvited and it decided to stay, in me,” she said.


Like many who face a serious illness, Claudia wondered why this burden had been placed on her shoulders, but she quickly moved beyond that. She thought of her children and others with the disease, knowing that perhaps if she participated in research scientists might find something in her that could help others.


Take a moment and meet Claudia, one of the everyday heroes that make 23andMe’s research possible. 
<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/-1gjNUzABAY" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

23andMe Blog

23andMe Blog Team

Everyday Hero

<div id="attachment_23819" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23819" class="wp-image-23819 size-medium" src="https://blog-api.23andme.org/wp-content/uploads/2016/04/picture-40-1425534389-1-200x300.jpg" alt="picture-40-1425534389" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/04/picture-40-1425534389-1-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2016/04/picture-40-1425534389-1.jpg 350w" sizes="auto, (max-width: 200px) 100vw, 200px" />Dan Benjamin, an Associate Professor of Economics at USC and one of the principal investigators with the Social Science Genetic Association Consortium. </div>
In one of the largest-ever genome wide association studies for behavioral traits, researchers have found three genetic variants associated with a person’s sense of well-being.
The study <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3552.html" target="_blank" rel="noopener noreferrer">published this week</a> in the journal Nature Genetics also looked at genetic associations with depression and what is called &#8220;neuroticism&#8221; – personality traits that are characterized by feelings of anxiety, fear and negativity. The study found two variants associated with depression and 11 with neuroticism. Most of the variants associated with depression and neuroticism were also associated with well-being, according to the study.
&#8220;We found that most of the genetic variants associated with depressive symptoms and or neuroticism also were linked to subjective well-being, and vice-versa,” said Daniel Benjamin, corresponding author and an associate professor at USC’s Center for Economic and Social Research at USC. “When examined individually, each genetic variant explains very little about these traits. But when taken together, these findings imply that the genetic influences on depression, neuroticism and subjective well-being result from the cumulative effects of at least thousands, if not millions, of different variants.”


The study was spearheaded by the<a href="http://www.ssgac.org/Home.php">  Social Science Genetic Association Consortium</a>, an international group of more than 190 scientists that was co-founded by<a href="https://cesr.usc.edu/people/staff/djbenjam"> Benjamin</a>, along with<a href="http://econ.as.nyu.edu/object/DavidCesarini.html"> David Cesarini</a>, at New York University and<a href="http://www.erim.eur.nl/people/philipp-koellinger/"> Philipp Koellinger</a>, at Erasmus University in Rotterdam. The consortium investigates the influence of genetics on human behavior, well-being and social science-related outcomes through large-scale studies of human genomes.


In this work, the researchers also found a strong link between the variants associated with these traits and those associated with anxiety disorders. The variants also had some moderate overlap with variants associated with schizophrenia and bipolar disorder.
Benjamin and the other study authors noted that the findings were driven in part by the size of the their genome wide association study, which included analysis of data from 298,420 individuals who were part of 59 different study cohorts that looked at subjective well-being.
The researchers also included data on depressive symptoms and neuroticism from other study cohorts that together included data from more than 300,000 individuals.

The role of genetics in well-being

This interview is part of an occasional series of profiles introducing you to <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22357" src="https://blog-api.23andme.org/wp-content/uploads/2015/03/KasiaB-1-200x300.jpg" alt="KasiaB 1" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/KasiaB-1-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2015/03/KasiaB-1.jpg 576w" sizes="auto, (max-width: 200px) 100vw, 200px" />some of 23andMe’s scientists behind 23andMe’s research. Senior Scientist and Population Geneticist Kasia Bryc is originally from Lublin, Poland, but grew up in Cincinnati, Ohio. As an undergraduate Kasia studied mathematics and computational science at Stanford and went on to Cornell for her PhD, where she studied with Carolos Bustamante. 
Her research there focused on the ancestry of African Americans and Latinos. For her post-doctoral studies Kasia worked in David Reich’s lab at Harvard Medical School. At 23andMe she has been involved in several ancestry related projects and research. <a href="https://blog.23andme.org/23andme-research/history-written-in-our-dna/">Her paper</a> on the genetic ancestry of African Americans, Latinos and European Americans across the United States offered the first of its kind genetic portrait of the U.S.
Tell us about your education:
As an undergraduate at Stanford I studied mathematical and computational Science, and then went to graduate school at Cornell. My PhD is technically in Biometry, which is a broad field applying statistics to questions in biology, but I basically studied population genetics because I was so enamored with it.
What&#8217;s your job title and role here at 23andMe?
As a population geneticist, I work on the methods that drive 23andMe&#8217;s ancestry-related reports and tools in the consumer product. 
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Name: Kasia BrycTitle: Senior Scientist, Population Genetics.
Originally From: Lublin, Poland but grew up in Cincinnati, Ohio
Degree and Institution: B.A. from Stanford, PhD from Cornell
Post Doc: Harvard Medical School
Fun Fact: I make a mean cherry pie.
</div>
What were you researching before you came to 23andMe?
I was a National Institutes of Health Ruth L. Kirschstein National Research Fellow at Harvard Medical School before coming to 23andMe. While at Harvard I researched methods for understanding genetic diversity, and looking at admixture. Admixture is the population genetic term for when two previously separate populations start mixing together, which turns out to have happened a lot in human history.
What are you working on now at 23andMe?
I&#8217;m part of the team innovating new tools for the ancestry product. We are always looking to improve our Ancestry Composition and DNA Relatives features! I&#8217;ve also given a lot of talks to genealogists, which is always fun. I&#8217;ve found that they often are quite enthusiastic about genetic testing since it&#8217;s such a revolutionary tool, and completely different from traditional paper trail and record searches.
Why are you excited about genetics? 
I&#8217;ve always loved thinking about evolution, and, in a broad sense, understanding how people came to be just how they are now. Indeed, each one of us is the result of millions of years of successful experiments – each of your genealogical ancestors passed down their genes, and their successes contributed to you becoming you. Genetics is a window not just into your genealogical ancestors who contributed DNA to you, but also into this evolutionary process, and how you are, well&#8230; you. It&#8217;s how I have <a href="https://blog.23andme.org/health-traits/no-im-not-irish/">red hair</a> or bits of Ashkenazi ancestry.
Tell us about one of your interesting findings at 23andMe, or in your previous scientific life.  
Population geneticists often study populations or groups of individuals living around the world to understand genetic patterns and get insights into human history. Joanna Mountain, Senior Director of Research at 23andMe and a fellow population geneticist, and I saw an opportunity to try to begin to understand the patterns of genetic variation that you see in individuals living in the United States today. We looked at how people self-identify compared to the genetic ancestry they carry. We were fascinated to see history of the US, with its complex historical migration patterns, reflected in the DNA of individuals living across different states. We also saw that appreciable numbers of individuals who identified as European Americans, or white, carried segments of Native American and African ancestry.
Tell us about a recent breakthrough in genetics research that you think will have a big impact on the industry.  
There are so many breakthroughs. It’s an exciting time to be a geneticist! Every day there are new associations of genetic markers with disease, or new findings give us a better understanding of the etiology or landscape of genetics. Each of these papers are moving us one step forward to understanding the pathways and the biology, which will eventually help drive development of better treatments.
One interesting fact people don&#8217;t usually guess about me is:
I&#8217;m actually very good with power tools. Even though my husband is just as good, I think I enjoy it more, so I&#8217;m the handyman around the house whenever anything needs fixing.
What&#8217;s one thing the average consumer should know about genetics?
I think 23andMe&#8217;s slogan &#8220;Welcome to You&#8221; is right on. This IS you! It&#8217;s like being able to peek inside yourself, to check out your own DNA. And that DNA has so much information about <a href="https://www.23andme.org/dna-ancestry/">your own history</a> (including your ancestors, your relatives, and your ancestry), as well as traits, and health related results. It is very cool to have access to this kind of information, something that was in the realm of science fiction up until ten years ago!

A Conversation with 23andMe’s Kasia Bryc

By Erynn Gordon, MS, LCGC 
23andMe&#8217;s Director of Clinical Development<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23750" src="https://blog-api.23andme.org/wp-content/uploads/2016/03/Erynn2-cropped-b_w-1-300x266.jpg" alt="Erynn2 cropped (b_w)-1" width="300" height="266" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/Erynn2-cropped-b_w-1-300x266.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Erynn2-cropped-b_w-1-768x680.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Erynn2-cropped-b_w-1-1024x907.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Erynn2-cropped-b_w-1-880x779.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Erynn2-cropped-b_w-1-1180x1045.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Erynn2-cropped-b_w-1.jpg 2040w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Testing in pregnancy can be a little overwhelming for prospective parents – blood tests, glucose challenge, ultrasounds, and fetal nonstress tests. Many of these tests are offered with little explanation but rather the expectation that you’ll proceed for your baby&#8217;s health.
But as a genetic counselor and a mother, I know that all these tests can be overwhelming. One particular type of testing that warrants more attention before pregnancy is carrier status testing for genetically inherited conditions.
I’m a big proponent of genetic testing, and I think the best time to be tested is before a pregnancy. Genetic testing pre-pregnancy allows a couple to learn about their carrier status; if they are carriers, they have the luxury of learning about the disease risk and discussing it with their healthcare provider. 
<img loading="lazy" decoding="async" class="alignright wp-image-23668 size-medium" src="https://blog-api.23andme.org/wp-content/uploads/2016/03/Robin-B-1-300x239.jpg" alt="Carrier Status Variants" width="300" height="239" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/Robin-B-1-300x239.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Robin-B-1-768x612.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Robin-B-1-1024x816.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Robin-B-1-880x701.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Robin-B-1.jpg 1137w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h2>What Are Carrier Screening Tests?</h2>
Carrier status tests are genetic tests used to determine if you carry a genetic change – or variant. For the conditions included in a carrier status test, having one genetic change – being a carrier – typically doesn’t mean you will have that condition. Still, you could pass on the variant to your child.
For autosomal recessive disorders, the types of conditions that healthcare providers are looking for when they do a carrier status test, it is only when both parents are carriers for the same condition that the child has a 1 in 4, or 25 percent, chance to be affected with the condition. (It’s important to note that this also means they have a 75 percent chance that their child will not be affected.) Autosomal recessive conditions for which carrier testing is commonly offered by healthcare providers include cystic fibrosis, Tay Sachs disease, and <a href="https://www.23andme.org/topics/carrier/sickle-cell-anemia">sickle cell anemia</a>, among many others.
<h2>What Can You Do if Both You and Your Partner Are Carriers?</h2>
If you and your partner are carriers, you should speak to your doctor or healthcare professional to understand your options fully.
Women interested in carrier testing can talk to their gynecologist or obstetrician to learn about available options. Usually, carrier testing is offered based on a woman’s ethnic background.
For example, women of African descent may be offered <a href="https://www.23andme.org/topics/carrier/">carrier status</a> testing for sickle cell anemia.
Women of European descent may be offered testing for cystic fibrosis.  Standard carrier status testing recommendations are based on the most common disorders in each population.  Historically, these targeted tests made sense because of the high cost of genetic testing. But now, because of the dropping cost of genetic testing, it is feasible to test for genetic conditions more broadly.  This broader approach means that even women who do not have much information on their ancestry but want to have carrier status testing done are no longer limited based on knowledge of their family background.
Broad-based carrier testing, sometimes called pan-ethnic carrier testing, is available through traditional healthcare providers and direct-to-consumer.
<a href="https://www.23andme.org/dna-health-ancestry">Direct-to-consumer genetic tests</a>, such as the carrier status test offered by <a href="https://www.23andme.org/carrierstatus-fda/">23andMe</a>* can provide valuable insights that can help start the conversation with your healthcare provider about appropriate genetic screening. At this time, no genetic test covers every possible risk to your future children so whether you choose direct-to-consumer testing or you have testing through your healthcare provider, be sure to ask about the limitations of the test so that you understand what the test can tell you and what it can’t.
Have more questions? Consider talking with a genetic counselor.  You can find a local genetic counselor through the <a href="http://www.nsgc.org/">National Society of Genetic Counselors</a>.
<h6>Disclaimer</h6>
<div style="float: center; text-align: justified; width: 600px; background-color: #ffffcc; padding: 15px; margin-left: 10px;">* 23andMe tests can determine adult carrier status from saliva collected using an FDA-cleared collection device (Oragene-DX model OGD-500.001). Still, they 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 of 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. The Cystic Fibrosis carrier status test is indicated for detecting 28 variants in the CFTR gene and is most relevant for people of Ashkenazi Jewish, European, and Hispanic/Latino descent. The <a href="https://www.23andme.org/topics/carrier/tay-sachs-disease">Tay-Sachs Disease</a> carrier status test is indicated for detecting 4 variants in the HEXA gene and is most relevant for people of Ashkenazi Jewish and Cajun descent. The Sickle Cell Anemia, carrier status test, is indicated for detecting the HbS variant in the HBB gene and is most relevant for people of African descent. </div>

Genetic Testing Pre-Pregnancy

<img loading="lazy" decoding="async" class="alignright wp-image-16700 size-medium" src="http://35.88.189.111/wp-content/uploads/2012/10/23andMe-Brian-049-210x300.jpeg" alt="" width="210" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/10/23andMe-Brian-049-210x300.jpeg 210w, https://blogcms.23andme.com/wp-content/uploads/2012/10/23andMe-Brian-049.jpeg 508w" sizes="auto, (max-width: 210px) 100vw, 210px" />
Perhaps you or someone you know is a genetic superhero and simply doesn’t know that about your own resilience to disease.
A <a href="https://www.nature.com/nbt/journal/vaop/ncurrent/full/nbt.3514.html">new paper</a> by researchers at the Icahn School of Medicine at Mount Sinai’s Department of Genetics and Genomics, found more than a dozen individuals who based on their genetics should have developed one of eight severe childhood diseases but never did. The research, which includes contributions and data from 23andMe and 12 other institutions, could help scientists searching for new treatments and cures for disease.
More than identifying those individuals, the study – dubbed<a href="http://resilienceproject.me/"> “The Resilience Project”</a> – offers a new model for disease research, one that focuses on studying healthy populations as way to gain new insight into disease. In other words, finding out what keeps some people healthy even though they are genetically predisposed to get sick.
“Usually in scientific studies, we start with a disease and try to figure out the genetics behind it,” said Brian Naughton, a co-author on the paper and the founding scientist at 23andMe.  “This study is very unusual in taking the opposite approach. By finding healthy people with what should be disease-causing mutations, we get a more complete picture of the disease and we may even learn what makes some people resistant.”

<div style="float: right; text-align: justified; width: 340px; background-color: #ffffcc; padding: 15px; margin-left: 10px;">
A Few Examples Of How Resilient Individuals Have Already Helped Researchers
<ul>
<li><a href="https://macarthurlab.org/lof/">Human Knockout Project </a>– Daniel MacArthur started this project out of his lab at Massachusetts General Hospital and the Broad Institute. He’s looking for healthy individuals with so-called loss function variants, genes that do not code for a protein. Researchers routinuely “knock-out” the function of a gene in mice when studying what a gene does.</li>
<li>PCSK9 – The gene regulates the level of LDL cholestrol, but researchers found that <a href="https://www.nature.com/news/genetics-a-gene-of-rare-effect-1.12773">certain individuals</a> with loss function variants in the gene were protected against high lipid levels. Since the discovery several pharmacuetical companies have used this discovery to develop <a href="https://www.nytimes.com/2015/08/28/health/fda-approves-another-in-a-new-class-of-cholesterol-drugs.html?_r=0">new therapies</a> for combating high cholesterol.</li>
<li>Alzheimer’s Escapers  – “Escapers” are individuals who have the genetic variants that put them at very high risk for disease, but for whatever reason never develop it. The Washington University School of Medicine is looking at families that are <a href="http://dian-info.org/">genetically predisposed to Alzheimer’s Disease</a> looking for individuals who have “escaped” getting the disease for insights into new treatments. 23andMe has also found escapers.</li>
<li>HIV – By identifying rare mutations in the gene CCR5 that provide resistance to HIV infection, researchers hope to find a <a href="https://www.nytimes.com/2015/02/19/health/new-approach-to-blocking-hiv-raises-talk-of-an-aids-vaccine.html">vaccine against AIDS</a>.</li>
<li>Diabetes – A few years ago researchers discovered that a variant in the gene ZNT8 protects even obese people from diabetes. Since then researchers have been using this as a possible drug target to <a href="https://www.nytimes.com/2014/03/03/health/rare-gene-protects-against-type-2-diabetes-even-in-obese-people.html">protect against diabetes</a>.</li>
</ul>
</div>
To find those resistant, or as the research calls them “resilient” individuals, the scientists gathered genetic data from more than half a million people who consented to participate in research. It included genotypic data, exome data and a few thousand whole genome sequences from databanks around the world.
The researchers decided to set strict criteria for their search. The first was that they would only look at severe or fatal “Mendelian” childhood diseases. These are disorders that are clearly inherited and in which the pathogenic mutations are already known. And then they looked at adults with those known mutations, but who never got sick.
In a TED talk given two years ago, Stephen Friend, a co-founder of the Resiliency Project and President of Sage Bionetworks and one of the paper’s co-authors, outlined the project by posing this question:
“Are there a very few of us walking around with a risk that would normally cause a disease but have something in them that is protective?”
The short answer is an emphatic “yes,” but even though the concept for this study seemed simple enough the work proved more difficult. The researchers looked at more than 870 genetic variants known to cause more than 580 severe Mendelian conditions. Initially they identified thousands of candidates but less than 1 percent of those survived the rigorous bioinformatic scrutiny applied by the team, that included filtering out candidates due to errors in variant calls because of low coverage for specific genetic regions or candidates that failed to pass the team’s criteria for clinical presentation for the conditions.
Another issue was that the initial consent documents for this study, and other complications, did not allow for participants to be recontacted, preventing researchers from following up with candidates.
In the end 13 individuals were identified with mutations that normally would lead to one of eight different Mendelian conditions including such things as cystic fibrosis and the often fatal campomelic dysplasia.
While all of those conditions typically manifest themselves at infancy or before adulthood, they never did in these 13 people.
The researchers say this study provides a “proof of principle” for future targeted large-scale prospective screen to identify “resilient individuals.”
Finding these 13 individuals or others like them, could help researchers in the fight to combat genetic disease in the future.

The Resilience Project

Your DNA is both a recipe for life, and a record of it – a thread that links your story to the human story.<img loading="lazy" decoding="async" class="alignright wp-image-20364 size-medium" src="https://blog-api.23andme.org/wp-content/uploads/2014/02/African-Ancestry-for-Self-Identified-Whites-300x174.jpg" alt="African Ancestry for Self-Identified Whites" width="300" height="174" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/02/African-Ancestry-for-Self-Identified-Whites-300x174.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2014/02/African-Ancestry-for-Self-Identified-Whites-768x446.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/02/African-Ancestry-for-Self-Identified-Whites-880x511.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2014/02/African-Ancestry-for-Self-Identified-Whites.jpg 1012w" sizes="auto, (max-width: 300px) 100vw, 300px" />


As part of <a href="https://education.23andme.org/">23andMe’s program for Educators</a>, we’ll be hosting a webinar looking at research done by Kasia Bryc, a senior scientist and population geneticist at 23andMe.
Kasia and her colleagues developed the first of its kind<a href="http://www.cell.com/ajhg/abstract/S0002-9297%2814%2900476-5"> genetic portrait of the United States</a> that illustrated some of the complex cultural and social history of America.
As part of the webinar
“<a href="https://education.23andme.org/genetic-landscape-webinar/" target="_blank" rel="noopener noreferrer">History in Your DNA: The Complex Genetic Portrait of the US</a>,” Kasia will spend about half an hour talking about her work and reserve another 30 minutes for questions from participants. The hour-long webinar is not just for educators and undergraduate and graduate students, but also life-long learners interested in the role genetics can play in illuminating what we know about history, anthropology and sociology.

<div style="float: right; text-align: justified; width: 300px; background-color: #ffffcc; padding: 15px; margin-left: 10px;">History in Your DNA: The Complex Genetic Portrait of the U.S.

When: 11 am to noon PST on Thursday, April 21

Who: Undergraduate and graduate level students and educators as well as others with prior knowledge or interest in genetic ancestry and the socio-political history of the United States.

Where: Go Here.

Highlights: Learn more about inheritance patterns, genetic admixture and the relationship between self-identified ancestry and genetic ancestry.
</div>

Kasia’s groundbreaking work went beyond just using DNA to understand large-scale patterns of<a href="http://admixturemap.paintmychromosomes.com/"> human evolution and migration</a>, and focused on more recent human history in the United States.
Her study detailed how the ancestry make-up of self-identified African Americans, Latinos and European Americans differs by region. Many of these differences reflect some of the distinctive socio-political history and migration patterns in different parts of the United States.
It’s a fascinating look at how DNA can uncover some of the historical underpinnings of regional differences in the US.
The webinar will allow students, educators and those interested in life-long learning a chance to dive deeper into the history hidden in our DNA and how genetic ancestry can inform social science and humanities instruction.

A Webinar on the Genetic Landscape of the USA

The National Institutes of Health has funded a promising new study by scientists here at 23andMe that could help alleviate some of the existing disparities in genetics research between people of European and non-European ancestry.<img loading="lazy" decoding="async" class="alignright wp-image-21956 size-medium" src="http://35.88.189.111/wp-content/uploads/2014/11/Kasia1-197x300.jpg" alt="" width="197" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/11/Kasia1-197x300.jpg 197w, https://blogcms.23andme.com/wp-content/uploads/2014/11/Kasia1.jpg 369w" sizes="auto, (max-width: 197px) 100vw, 197px" />
Some estimates show that <a href="https://www.nature.com/nature/journal/v475/n7355/full/475163a.html" target="_blank" rel="noopener noreferrer">more than 90 percent</a> of the research into the genetics underlying disease is on individuals of European descent alone. There are several reasons for this  – historical, cultural, economic, and social. The lack of diversity has meant that non-Europeans have not benefited from the huge advances in genetic research. Still, by leveraging 23andMe’s large and ethnically mixed customer base, researchers here think they can change that.
“This could help reduce the genetics research disparities among groups in the United States and elsewhere,” said Kasia Bryc, the senior scientist and population geneticist at 23andMe who will lead the research. “The scientific impact of findings from this research may be significant.”

Instead of using traditional genome-wide association studies to identify genetic variants associated with disease, this approach, called mapping by admixture linkage disequilibrium, or admixture mapping, takes advantage of the history of population mixing in the United States. Although admixture mapping was first suggested decades ago, leveraging 23andMe’s database would take it to a larger scale. 23andMe has more than 1.2 million customers, 80 percent of whom have consented to participate in research.
Although most of our customers are of European ancestry, our customer base includes large numbers of African Americans and Latinos. 23andMe has also gotten very good at estimating ancestry along the genome, which is crucial for detecting associations with disease via admixture mapping.
Mapping by admixture linkage disequilibrium works by tapping into variants or sets of variants found more frequently <img loading="lazy" decoding="async" class="alignright size-full wp-image-23763" src="https://blog-api.23andme.org/wp-content/uploads/2016/03/Pattern-of-Ancestry.jpg" alt="Pattern of Ancestry" width="188" height="449" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/Pattern-of-Ancestry.jpg 188w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Pattern-of-Ancestry-126x300.jpg 126w" sizes="auto, (max-width: 188px) 100vw, 188px" />within one ancestral group. In admixed populations – such as African Americans and Latinos who have mixed European, African, and Native American ancestry – using this method may be a way to more easily identify disease-causing variants.
Looking at individuals with specific diseases and where there is “enrichment” for one ancestry should highlight genetic regions associated with that disease, or so researchers hope. This is because the disease-causing variants occur more frequently in segments inherited from ancestral populations with a higher frequency of disease-associated variants.
23andMe’s research will determine whether admixture mapping could become a powerful tool complementary to large-scale genome-wide association studies.
Our researchers believe this work could help uncover genetic variants associated with disease in both people of European and non-European ancestry. However, because much of the genetic variation in Europeans has already been discovered, we expect this study to be most valuable in providing insights into biological variation for non-Europeans.
Beyond what the study could do to alleviate some of the huge disparities in health research among non-Europeans, the work could also help point the way in other areas, including guiding the development of drug targets.

23andMe Scientists Improving Diversity in Genetic Research

To mark Parkinson’s Awareness Month, we’re taking a moment to look at some of the accomplishments 23andMe has made in the study of the disease in a relatively short time.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23733" src="https://blog-api.23andme.org/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg" alt="PD Infographic Top" width="244" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg 244w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-768x946.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-831x1024.jpg 831w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-714x880.jpg 714w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-958x1180.jpg 958w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top.jpg 1010w" sizes="auto, (max-width: 244px) 100vw, 244px" />


First launched in 2009, 23andMe’s <a href="https://www.23andme.org/pd/">Parkinson’s Research Community</a> is now the world’s largest cohort of genotyped Parkinson’s patients. This community has powered important research from the beginning, first helping to replicate known genetic associations for Parkinson’s and then helping researchers find never before seen associations.


Like other 23andMe research initiatives, the 23andMe Parkinson’s Community is unique because it enlists people as partners in research. For those with Parkinson’s – some of whom live away from major centers of research or are physically unable to travel to those centers – 23andMe’s Research Community has allowed them to easily contribute from the comfort of their own homes.


This model has helped to accelerate the pace of research, uncovering new insights into the genetics of Parkinson’s, and offering a model for other kinds of disease research now conducted at 23andMe.
In the six years since launching more than 11,000 people with Parkinson’s have joined. Their participation has made it possible for our researchers to uncover eight new genetic associations for Parkinson’s and replicated dozens of others. 23andMe researchers contributed to the largest genome-wide association study on Parkinson’s in 2014, which looked at more than seven million genetic variants in 13,000 people with Parkinson’s.
This community has enabled our researchers to make important discoveries, crowdsourced information about the most common medications within the community, and <a href="https://www.23andme.org/pd/">partner with other organizations</a> doing <a href="https://www.nature.com/ng/journal/v46/n9/full/ng.3043.html">important work</a> on Parkinson’s.  More recently 23andMe partnered with Genentech on a project to sequence 3,000 individuals within 23andMe’s Parkinson’s research community to identify new treatments for the disease. As part of this effort, our researchers are also looking at healthy family members of those with Parkinson’s.
Our team is also looking to the community for advice on improving the experience.
Recently, 23andMe held the first meeting of our Parkinson’s research community advisory council. The eleven-member council of volunteers offered useful and important feedback. We also recently gathered our scientific advisory board for a meeting and hired a post-doctoral student who will work solely on Parkinson’s research community projects.
We know that in the coming months and years we will be able to leverage this one-of-a-kind community to learn more help in the search for better treatments for the disease.
Take a moment to see some of what we’ve done.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-23738" src="https://blog-api.23andme.org/wp-content/uploads/2016/03/07172015_PDrecruitInfographic_v142-2.jpg" alt="07172015_PDrecruitInfographic_v14(2)" width="750" height="4473" />

April is Parkinson’s Awareness Month

Researchers at 23andMe, Sweden’s Karlolinska Institute, and the University of Geneva Medical School have identified new genetic associations for blood clots, one of the leading causes of death worldwide.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="223" src="http://35.88.189.111/wp-content/uploads/2009/03/bloodtravel1-300x223.jpg" alt="" class="wp-image-3194" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodtravel1-300x223.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodtravel1.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



On top of finding these genetic associations, this new paper also offered a model for conducting future research into this difficult-to-study condition by using self-reported data from 23andMe research participants answering questions about their own history of blood clots.



“Using these datasets for research is becoming one of the most powerful tools for the discovery of common variants for a wide range of disease-related phenotypes,” according to <a href="http://hmg.oxfordjournals.org/content/early/2016/03/03/hmg.ddw037.abstract">the paper</a>, published earlier this year in the journal Human Molecular Genetics.







<h2 class="wp-block-heading" id="h-venous-thromboembolism">Venous Thromboembolism</h2>



Blood clots or venous thromboembolism, which include both deep-vein thrombosis and pulmonary embolisms, are relatively common, but studying them has been difficult. This is in part because it is hard to gather enough individuals who have clots to adequately power research. In the past scientists depended on patients who’d been identified through clinical diagnosis of having clots. This limited the numbers of individuals who could be included in studies and underpowered research into this complex disease that has both environmental and genetic influences.



As a result, previous research tended to depend on what are called meta-analyses, essentially pooling data from several different studies to make findings.



For this genome-wide association study, researchers gathered data from more than 250,000 23andMe customers who consented to participate in research and are of European ancestry, including over 6,000 individuals who’d had blood clots.



<h2 class="wp-block-heading" id="h-genetic-associations-with-blood-clots">Genetic Associations with Blood Clots</h2>



The researchers found eight genetic variants strongly associated with the condition. Seven of the variants identified have been found in previous studies – in or near the genes F5, FGA-FGG, F11, F2, PROCR, ABO, and SLC44A2 – which is an important validation that the self-reported data gives results consistent with those studies. One association is entirely new, according to researchers. The newly found variant – – is near the gene F8, which has a known role in blood coagulation.



In addition, this study found for the first time shared genetic risk between blood clotting and the risk for stroke and coronary artery disease. This adds a new dimension to what researchers are learning about the biology of the disease. While many of the variants identified are located in genes that regulate blood coagulation or lipid levels, the researchers said their data point to changes in a gene (TFPI) involved in the regulation of and expression of endothelial cells, which line the interior surface of both blood and lymphatic vessels in the body. The study also found that one of the genetic associations with blood clotting was also associated with increased height.



Together, all these findings suggest that by pooling additional data from self-reported genetic studies, researchers could create a larger and more powerful study that could shed additional light on some of these associations and their related biology, according to the study authors.

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