If you’re a recent Ph.D. graduate interested in opportunities to work with genetic data in the search for new insights into human disease and new treatments for those conditions, then 23andMe wants you.
23andMe has many new positions as part of our <a href="https://research.23andme.com/postdocs/">Postdoc Program</a>. Positions will include work in labs, data science, computational biology, or translational biology.  These positions offer the right candidates unrivaled opportunities to collaborate, investigate and discover together with our seasoned scientists known for world-class innovation.
“23andMe has a very large database of re-contactable customers who have consented to participate in our research driven by genetic data,” said Davide Foletti, a Research Fellow in Drug Discovery on the 23andMe Therapeutics Team.  “The unparalleled size of our unique database gives us enormous discovery power to study all manner of diseases. It shapes our approach to target discovery and guides our process to drug development generating insights at an unprecedented scale. The postdoc positions at 23andMe offer a unique opportunity for the right candidate.” 
The positions include generous compensation, with competitive salaries as well as top-notch benefits, and a wonderful working environment. The positions will be for two, or three years, and in the case of the biology postdoc positions within the Therapeutics Team, there will be an optional fourth year. Some positions may be remote. Two postdoc positions within the Research Team will be sponsored by the Michael J. Fox Foundation.
We are interested in recent Ph.D. graduates who are ready to pursue research focused on a number of areas, from Long COVID and Parkinson’s disease, to developing and improving upon polygenic risk scores, and studying the genetics of complex diseases within diverse populations.. Within our Therapeutics Team, there will be positions focused on genetics, biology and translational science, novel technologies, and computational and functional genomics approaches to target and drug discovery. 
Each Postdoc will be supported in expanding their research experience and skills while being highly encouraged to present their work externally at scientific meetings and publish in top-ranked peer-reviewed journals. The program offers the opportunity to work with the largest genetic and phenotypic database of its kind in the world,opportunities to develop project management skills and to work cross-functionally with multiple groups and functions within the company.
23andMe’s mission is to help people access, understand, and benefit from the human genome. Our Postdoc program will focus on therapeutics and the opportunity to ensure that more people benefit from the human genome. Qualified postdocs leading innovative projects push our mission forward, translating great research into great discovery.
Stay tuned for information and links to more details in the coming weeks for this great opportunity for the right candidate.  
<h6>Key Facts</h6>
<ul>
<li style="font-weight: 400;" aria-level="1">23andMe’s postdoc positions are for two, or three years with the option of a fourth year for the biology postdoc position on the Therapeutics team. While we cannot commit to hiring any of our postdocs, we encourage them to apply for open positions with the company after completion of their training. </li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">The program is funded by 23andMe except for two positions created with the support of the Michael J. Fox Foundation.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">The program aims to prepare the postdoc for success in research in academia or industry.</li>
<li style="font-weight: 400;" aria-level="1">23andMe postdocs will be working on real-world challenges alongside our scientists.</li>
</ul>
<h6>Eligibility Criteria</h6>
To be eligible for a 23andMe research postdoc position, you must have completed a Ph.D. in a STEM field within the last two to four years.
<h6>Recruiting Timeline</h6>
Details for the openings will be posted by the end of May 2022, with the aim of hiring qualified candidates this summer.
<h6>Diversity, Equity, and Inclusion</h6>
Diversity, equity, and inclusion at 23andMe foster a workplace that embodies respect and transparency, helps us empower one another, and provides access to opportunity for everyone. Learn how you will experience diversity, equity, and inclusion <a href="https://www.23andme.com/diversity-equity-inclusion/">at 23andMe</a>.
<h6>Applying</h6>
Visit our <a href="https://research.23andme.com/postdocs/">Postdoc Program Website</a> to learn more and apply for positions through <a href="https://www.23andme.com/careers/jobs/">our careers page</a>.

23andMe Blog

23andMe Blog Team

Postdoc Opportunities at 23andMe

Diseases are considered rare if they affect fewer than 200,000 in the United States, but collectively rare diseases — there are nearly 7,000 — are more common than we realize, affecting about 25 million Americans and more than 300 million people worldwide.<img loading="lazy" decoding="async" class="alignright wp-image-16566 size-medium" src="http://35.88.189.111/wp-content/uploads/2009/02/lung_xray-300x223.jpeg" alt="" width="300" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/02/lung_xray-300x223.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/02/lung_xray.jpeg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Because these are rare conditions finding enough research participants to study these conditions can make studying them immensely challenging for scientists. But the 23andMe research model is uniquely suited to<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> study rare diseases.</a> We’ve launched a series of studies on rare diseases like <a href="https://www.23andme.com/systemic-sclerosis-study/">systemic sclerosis</a>, and<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> idiopathic pulmonary fibrosis (IPF)</a>. Earlier this month we added one more to the list with a <a href="https://www.23andme.com/sarcoidosis-representation/">new study of sarcoidosis</a>. April also happens to be Sarcoidosis Month, and April 30th is National Sarcoidosis Day in the United States.
So, take a moment to learn a bit more about this little-known condition.
<h6>An Inflammatory Disease</h6>
Sarcoidosis (pronounced SAR-COY-DOE-SIS), is an inflammatory disease that mostly affects the lungs in people with the condition but can affect any organs in the body. 
The disease leads to the clumping together of inflammatory cells in different organs, which in turn can lead to scarring and organ dysfunction. While it impacts both men and women, and people of any ethnicity or age, it disproportionately affects people of African ancestry, particularly women, and people of Northern European ancestry. 
Early symptoms may include fatigue, swollen lymph nodes or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may also include shortness of breath, wheezing, a persistent cough or chest pain. When it affects the heart, the condition may result in irregular heart beat, or accelerated heart beat, or swelling of the heart, known as edema. It can also affect the eyes resulting in blurred vision,
There currently is no cure and few approved treatments.
<h6>Searching for Treatments</h6>
23andMe’s study will look at genetic associations in what we hope will be the world’s largest study of this disease in African Americans. We hope the research identifies potential new treatments for sarcoidosis. Our efforts will involve recruiting people with the condition to participate in our research. That ensures that people of African ancestry are well-represented in the research. This is to ensure that any new potential treatments are effective for underrepresented populations.
In general, studying rare diseases is a challenge because patients are hard to find and recruit in large numbers. Simply finding enough people with one of these conditions who can participate is often the first hurdle for researchers. But 23andMe is uniquely positioned to do this work. We believe that by leveraging online tools and reaching out to individuals diagnosed with sarcoidosis we can accelerate the pace of research.
Just as with most other rare diseases, there is a strong genetic component to sarcoidosis. However, many of the genetic variants associated with the condition have not yet been identified. 
<h6>More</h6>
Learn more about 23andMe’s sarcoidosis study <a href="https://www.23andme.com/sarcoidosis-representation/">here</a>.
Questions about the study? Contact us at <a href="mailto:sarcoidosis-representation@23andme.com">sarcoidosis-representation@23andme.com</a>.

23andMe Launches Sarcoidosis Study

The numbers are staggering.&nbsp;
In the last two decades, the number of Americans with <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">Type 2 diabetes</a> has reached epidemic proportions. More<a href="https://www.cdc.gov/diabetes/basics/type2.html"> than a third</a> of adults in the United States are pre-diabetic. The vast majority of them, 84 percent, don&#8217;t even know they are at risk.&nbsp;
About 34 million people in the US have diabetes, and 20 percent don&#8217;t know it. Type 2 diabetes is the seventh leading cause of death in the United States. The costs for treating those with diabetes are estimated to be more than $327 billion annually, according to the<a href="https://www.diabetes.org/resources/statistics/cost-diabetes"> American Diabetes Association.</a>
<h6>Preventable</h6>
Delayed diagnosis for those who are pre-diabetic as well as those who have already developed type 2 diabetes, hampers effective treatment. According to the Centers for Disease Control, more than seven million people in the United States have undiagnosed diabetes. And more than 80 million&nbsp;are pre-diabetic and at risk.
This is all for a largely preventable condition.
Like a lot of different conditions, early diagnosis or more accurate predictors for risk could help those at the highest risk for type 2 diabetes. Right now, the process by which we screen for the risk of developing type 2 diabetes relies primarily on age, family history, and body mass index (BMI). But a recent study by researchers from 23andMe identified how we could improve that, offering hope to identify people sooner who have an increased likelihood of developing type 2 diabetes.
<h6>Improving Screening</h6>
The study, published in a special issue of the journal<a href="https://www.frontiersin.org/research-topics/23213/dna-based-population-screening-for-precision-public-health"> Frontiers in Genetics</a> found that adding genetics in the form of a polygenic risk model to family health history and BMI can substantially improve current screening for type 2 diabetes.
“Type 2 diabetes is an enormous public health issue affecting millions of people in the United States alone,” said Jeff Pollard, MD, 23andMe’s Director of Medical Affairs and a co-author of the study. “This paper shows that using a polygenic risk model for T2D adds information that is separate from family history, countering one major argument against the utility of using this kind of polygenic risk model in population screening.”
Not only does adding the polygenic risk model improve screening for those at risk for type 2 diabetes, but it would also identify slightly more individuals with type 2 diabetes who simply don’t yet know they have it. This offers opportunities for earlier treatment for those with the condition and prevention for those who have not yet developed type 2 diabetes.
<h6>Polygenic Scores</h6>
Over the last several years, scientists have developed so-called polygenic scores that rely on large sets of genetic and non-genetic data to better calculate disease risk. For this study 23andMe, researchers relied on data from more than 3.8 million 23andMe customers who consented to participate in research. Then our scientists combined results from several genome-wide association studies to identify more than 11,000 genetic variants associated with type 2 diabetes. From there, researchers built a model to assess the likelihood of developing the condition. 
The field of genetic prediction has relied mostly on data from participants of European descent, and the lack of global representation has often meant that polygenic scores developed in one population don&#8217;t work as well in others. In this study, however, 23andMe scientists were able to show that the PGS would help in screening practices in the Hispanic/Latino community as well.
Although 23andMe uses a polygenic risk score for its<a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/"> Type 2 Diabetes Report (Powered by 23andMe research)</a>, it is not the same as the polygenic risk score used in this research. The T2D report calculates a polygenic score based on more than 1000 genetic variants, the research is based on a model that includes 11,999 variants. In addition, the report also relied on phenotypic data from more than 1.1 million 23andMe customers who consented to participate in research. While the research included phenotypic data from more than 1.6 million customers who consented to participate in research.

<hr>
Read more posts on type 2 diabetes and polygenic scores:
<ul>
<li><a href="https://blog.23andme.com/23andme-research/type-2-diabetes-data/">23andMe Data on the Genetics of Type 2 Diabetes</a></li>
<li><a href="https://blog.23andme.com/health-traits/spit-podcast-takes-on-type-2-diabetes/">Spit Podcast Takes on Type 2 Diabetes</a></li>
<li><a href="https://blog.23andme.com/health-traits/type-2-diabetes/">23andMe Offers New Genetic Report on Type 2 Diabetes</a></li>
</ul>

Improving Screening for Type 2 Diabetes

A 23andMe study published this month provides insight into the cause and overlapping genetics of two mental health disorders – depression and bipolar disorder.  
The National Institutes of Health estimates that more than 16 million Americans are affected by depression each year, while nearly 6 million Americans have bipolar disorder.
Genetics and environmental factors — childhood trauma and poverty, for instance — influence the development of both depression and bipolar disorder. Understanding the interplay between those two factors may help researchers develop more targeted treatments. 
<h2>AFFECT Study</h2>
The study, known as the<a href="https://www.nature.com/articles/s41398-022-01877-2.pdf?proof=t%3B%5D"> Affective disorders, Environment, and Cognitive Trait (AFFECT) study</a>, looked at data from about 50,000 23andMe customers who consented to participate in research over more than nine months. The study was conducted in collaboration with Lundbeck, a company dedicated to restoring brain health. The research provides a highly valuable real-world dataset, deepening our understanding of two of the most highly impactful mood disorders. Of those participating, 15,000 reported a diagnosis of major depression, and almost 10,000 reported that they had bipolar disorder. The remaining individuals reported having neither condition.
The study collected self-reported data and included background health and demographic information. In addition to genetic data, it incorporated information from a series of online surveys, behavioral assessments, and cognitive tests. 
“The AFFECT study represents a unique resource for dissecting the structure of mood disorders across multiple levels of analysis,” the researchers said. In addition, the study&#8217;s fully remote nature provides valuable insights for future virtual and decentralized clinical trials within mood disorders.”
<h2>Results Consistent with Previous Studies</h2>
While these two conditions are different, they share many of the same symptoms. These similarities reinforce the notion that the conditions may fall across a spectrum. Among those overlapping symptoms, the most common were depression, mania, anxiety, and indistinct physical aches and pains. While both those with major depression and bipolar disorder reported sleep problems or substance abuse issues, those two issues were more common among those with bipolar disorder and, according to the researchers, were one of the strongest differentiation points between the two conditions. The study found that symptoms for both conditions often began in pre-teens and often involved some sort of childhood trauma; about 63 percent of those with depression or bipolar disorder reported an adverse childhood experience.
The study is another in a series of studies that 23andMe has either directed or contributed data to advance our understanding of depression and bipolar disorder. The most recent was<a href="https://blog.23andme.com/23andme-research/genetics-of-depression/"> a study last year</a> by the U.S. Department of Veteran Affairs that included data from more than 1.2 million individuals. 23andMe also contributed data used in a <a href="https://blog.23andme.com/23andme-research/new-insights-into-the-genetics-of-depression/">genetic study</a> by the University of Edinburgh published in the journal<a href="https://www.nature.com/articles/s41593-018-0326-7"> Nature Neuroscience</a> three years ago. Each has uncovered new genetic associations with the two conditions. 
Researchers will continue to study the data from the AFFECT study to find clues about how genetics and environmental factors may combine to impact brain function.

A Glimpse at Depression and Bipolar Disorder Study

Using data from more than 3 million people, a team of researchers from the<a href="https://www.thessgac.org/"> Social Science Genetic Association Consortium</a> completed what is now the <a href="https://www.nature.com/articles/s41588-022-01016-z">largest genetic study</a> ever done on educational attainment, the measure of the number of years someone spends in school.
“Educational attainment is influenced primarily by institutional and environmental factors, such as socioeconomic status, school quality, and the neighborhood where you grow up,&#8221;said <a href="https://research.vu.nl/en/persons/aysu-okbay">Aysu Okbay</a>, the study’s lead author and an assistant professor at the Vrije Universiteit Amsterdam. &#8220;But psychological characteristics that are influenced by genes, including certain cognitive abilities and personality traits, also matter for school performance.” 
<h6>Genetic Factors</h6>
It’s estimated that at least 20 percent of the variation in educational attainment between people can be traced back to genetic factors. But each genetic variant — each single nucleotide polymorphism or SNP — only has a minute influence. This illustrates “polygenic” influence on educational attainment, where no single common variant plays a large role. 
Although this study found more than 3,900 SNPs associated with educational attainment, the researchers estimate that there are likely tens of thousands if not more that play a role. Taken together, the SNPs included in this study explain about 13 percent of the variance in educational attainment among people of European ancestry. In comparison, household income predicts about 7 percent of the variation in educational attainment, while a mother’s education level predicts about 15 percent, according to the researchers.
<h6>More Data</h6>
The genetic associations identified in this study, however, explain far less of the variance in educational attainment among people of non-European ancestry. Although this study included more than 2 million 23andMe customers who consented to participate in research, the researchers argue that an even larger study with a more diverse set of research participants would uncover more relevant genetic variants and be more relevant for people of non-European ancestry.
This is not the first time the consortium, which includes scientists from a dozen institutions around the world, has looked specifically at educational attainment. The last study, which had only a third as many participants and was<a href="https://blog.23andme.com/23andme-research/massive-study-on-the-genetics-of-educational-attainment/"> published in 2018</a>, found about 1,200 genetic variants that, taken together, suggested an association with brain development.
In a <a href="https://www.thessgac.org/faqs">detailed document</a> that accompanied the publication of the current study, the researchers explain that the connection to brain development isn’t likely to be a direct one. Instead, brain development affects psychological characteristics like cognitive performance and personality traits that in turn lead to behavioral tendencies. These tendencies, in combination with other factors, play a role in outcomes at school. For example, differences in school performance may relate to sleep quality, attention span, or personality traits. A student who is more willing to listen to a teacher’s instructions and gets a good nights rest might do better in an academic setting, for example. 
Read the full paper <a href="https://www.nature.com/articles/s41588-022-01016-z">here</a>.

New Study on Genetics of Educational Attainment

Our bodies do a lot on autopilot — breathing, keeping our hearts going, sweating, digesting our food. But sometimes those automatic functions don’t work automatically. 
So-called “autonomic dysfunction” is when that process, controlled by the autonomic nervous system, goes haywire.
23andMe’s new lead scientist for our Parkinson’s Research program, Lucy Norcliffe-Kaufmann, Ph.D., has been fascinated by that process since studying physiology for her doctoral degree at the University of Leeds.
In particular, Lucy was intrigued by fainting, which is a reflexive response triggered by the autonomic nervous system. In some cases, neurodegenerative conditions like Parkinson’s disease can damage or destroy a person’s autonomic nerves. So for some of those with Parkinson’s-related autonomic dysfunction, which among other things causes hypotension, characterized by a sudden drop in blood pressure upon standing. 
Lucy has continued to study this process throughout her career as a clinical autonomic neuroscientist. She spent several years as the associate director of<a href="https://med.nyu.edu/departments-institutes/neurology/divisions-centers/autonomic-disorders"> New York University’s Langone Health’s Dysautonomia Center</a>, also serving as an associate professor of neurology, neuroscience, and physiology there. Most recently she worked in the private sector with Theravance, where she worked on potential treatments for hypotension, a common problem among those with Parkinson’s disease.
Her role at 23andMe marks a new chapter in her career but also a continuation of this focus on conditions related to Parkinson’s. Along with this continued attention on neurodegenerative conditions, Lucy has always put patients at the center of her work. It’s that and the richness of 23andMe’s data that drew her to 23andMe, and its groundbreaking Parkinson’s research program.
We recently sat down with Lucy virtually to talk to her about her work, Parkinson’s disease, and what she’ll be focused on at 23andMe. Her responses below have been edited for length.
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="679" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2022/03/Lucy_N-K-679x1024.jpg" alt="" class="wp-image-29636" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/03/Lucy_N-K-679x1024.jpg 679w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Lucy_N-K-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Lucy_N-K-768x1158.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Lucy_N-K-583x880.jpg 583w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Lucy_N-K-782x1180.jpg 782w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Lucy_N-K.jpg 1043w" sizes="auto, (max-width: 679px) 100vw, 679px" /></figure>
 
<h6>What inspired you to become a scientist?</h6>
My father died of diabetes and renal failure very young. I wanted to understand diseases and make a difference. That set me on the path of clinical research. 
<h6>Why did you focus your work on autonomic disorders and neurodegenerative diseases?</h6>
My Ph.D. focused on fainting, which is a reflex response triggered by the autonomic nervous system. Sometimes we would see patients with neurodegenerative diseases that destroy the autonomic nerves. After finishing my degree, I became more involved with patients who have neurological diseases and permanent malfunctioning of the autonomic nervous system that causes near-fainting each time they stand. 
<h6>During your time at NYU, your research included a lot of work directly with patients and advocacy groups. Why is that important in disease research? </h6>
It’s important that we listen to the patient community to find out what’s most bothersome for those living with diseases so that our research is targeting something relevant. The patient community also needs to be aware of what research opportunities are out there, so they can make a choice whether they want to participate. Finally, I think it’s important to close the loop so that patients and caregivers can understand how the research developments translate back to their care. Patients and caregivers are a critical part of our research success. They need to be with us every step of the way. 
<h6>Both at New York University and then I think when you were doing work at Theravance, you began doing more work related to genetics but also in the development of treatments. Can you explain a little about that? </h6>
At NYU, I was incredibly fortunate to spend 15-years working with a community of patients with familial dysautonomia, which is a rare Jewish genetic disease that affects the development and survival of the nervous system. These children are born without the ability to feel pain or temperature and regulate their blood pressure. When I joined NYU, familial dysautonomia was misunderstood from a neurological basis. Over the years, we helped understand what was the specific pattern of nerve loss that caused the symptoms, we partnered with the FDA’s Office of Orphan Product Development to find new therapies to treat the debilitating symptoms and worked on developing potential genetic therapies to help stop the ongoing neurological decline. This patient community shaped my research career, and for that, I will always be grateful. 
At<a href="https://www.theravance.com/"> Theravance</a>, I spent a year in industry working on developing a drug to treat orthostatic hypotension, which is a problem around 40 percent of patients with Parkinson&#8217;s disease develop due to their blood pressure falling to low levels when they stand. 
<h6>What are the kinds of scientific questions or problems you are drawn to?</h6>
I’m drawn to the types of questions that don’t have easy answers. I love clinical research that comes from following the patients and observing trends or patterns that teach us about diseases. I find clinical data fascinating because it comes from the patients. It’s their story and it’s up to us to think about what that means and how we can apply our knowledge to understand and develop better treatments. 
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="861" height="916" src="https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research.png" alt="" class="wp-image-29642" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research.png 861w, https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research-282x300.png 282w, https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research-768x817.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research-827x880.png 827w" sizes="auto, (max-width: 861px) 100vw, 861px" /></figure>
 
<h6>What prompted you to come to 23andMe, and what specifically interests you about the Parkinson’s research program? </h6>
I really like the idea that 23andMe is following research participants with Parkinson&#8217;s disease. I’ve worked all my career in doing natural history studies. A big draw for me was the idea that we will be keeping in touch with these patients so we can understand how they evolve and we can link that back to genetics. You can only do so much when you see a patient once. But when you follow them over time you can understand much more. It’s this part that intrigues me. Each patient is a story that contributes to our understanding of Parkinson&#8217;s disease over time. Patterns start to emerge and that can change our understanding of neurological disease. 
<h6>Could you explain a little bit about what you’ll be doing in this new job?</h6>
I’ll be working within the Parkinson&#8217;s disease program to map the clinical features of patients and understand their trajectories. We call this phenotyping. Once we understand the phenotypes we can link this back to the genotype and understand why people with Parkinson&#8217;s disease develop some complications and others do not. We will also be following a group of patients that have increased genetic susceptibility to Parkinson&#8217;s disease, which allows us a key window of opportunity to understand the prodromal/early phase of the disease. The earlier we learn to spot Parkinson&#8217;s disease, the more chance we have of intervening to stop neurons from progressively dying. That’s exciting. 
<h6>What is unique about 23andMe’s data set or our research model that interests you?</h6>
What’s unique is the scale of data that we have and the ability to understand how our genotype influences the risk of developing Parkinson&#8217;s disease and how it may progress. It’s an incredible opportunity to work with a team of scientists so that we can answer important clinical questions and set ourselves up for developing and testing disease-modifying therapies. 
<h6>What are your hopes for the work you are doing?</h6>
My hopes are that we can make a real contribution to understanding not only the risks for developing Parkinson&#8217;s disease by following patients in the prodromal phases but also what’s happening in the lives of patients living with the disease today. I’d hope that this goes back into developing new therapies that target the core of the disease process so that we can prevent Parkinson&#8217;s disease before it emerges or preserve function and stop neurological decline for those already diagnosed.

Introducing the New Lead Scientist for Parkinson’s Research at 23andMe

By Adam Auton, 23andMe Vice President, Human Genetics
For scientists at 23andMe, the recent announcement of taking our <a href="https://investors.23andme.com/news-releases/news-release-details/23andme-initiates-phase-1-clinical-trial-first-wholly-owned">first wholly-owned cancer drug</a> into a clinical trial is beyond exciting. This is a huge milestone for the company and for our Therapeutics group. 
As a scientist and vice president for human genetics at 23andMe, I would love for more people to understand how important this is; not just for us at 23andMe, but also as a demonstration of how genetic research is transforming drug discovery.
So, I&#8217;m writing this post to explain how our unique database shapes our approach to drug target discovery. The intent is to share more about how we use both genetic information and non-genetic information together in the largest database of its kind. We are generating insights backed by human genetics at an unprecedented scale so that more people can benefit from what we learn about the human genome.
The two things to know is that at 23andMe, it all begins with human genetics, but it doesn&#8217;t end there. 
But before diving into that, let’s take a detour using a real-world example to explain a bit about 23andMe’s unique research model and how it sets us apart.
<h6>The 23andMe COVID-19 Study </h6>
23andMe isn&#8217;t developing vaccines or therapies for COVID-19, so what does that have to do with this topic? Put simply, what we were able to do as scientists studying COVID-19 is a beautiful illustration of the power of our research model. Let me explain.
Early in the pandemic, the scientists at 23andMe, like scientists around the world, asked ourselves, &#8220;what can we do to help?&#8221; 
23andMe has a very, very large database of re-contactable customers who have consented to participate in our research. That gives us the power to study all manner of diseases, including COVID-19. 
We were curious whether there was something we could learn about the disease that could reveal more about its biological mechanisms and offer insights about potential ways to treat it. Specifically, we wanted to understand why some people get very sick with COVID-19, whereas others experience an asymptomatic infection. Why is this? Could genetics play a role?
We set up our <a href="https://you.23andme.com/covid19-study/">COVID-19 Study</a> and asked our research participants questions about their experience with the virus. In a matter of a few months, we had more than 1.2 million people participating in our study and we were able to generate a host of findings. 
We found that <a href="https://blog.23andme.com/23andme-research/blood-type-and-covid-19/">blood type</a> plays a role in the susceptibility to the virus and a locus on chromosome 3 appears to influence severity in symptoms among those who get it. And we found genetic associations with the loss of <a href="https://blog.23andme.com/23andme-research/loss-of-smell-covid-study/">smell and taste</a> among those with the virus. 
Additionally, we investigated differences in <a href="https://blog.23andme.com/23andme-research/covid-19-vaccine-reactions/">vaccine reactions</a> among people. We also have some of the largest cohorts of underrepresented populations, which allowed us to discern some of the different impacts the virus has had on people of <a href="https://blog.23andme.com/23andme-research/impact-disparities-of-covid-19/">different ethnicities</a>. And we were able to share these findings with the scientific community, our customers, and the public at large as soon as we made them. 
This is a great example of science in action. Recruiting and surveying large numbers of individuals regarding their experiences with a specific disease would usually take years. In this case, we were able to go from a scientific idea to a collection of results in a matter of weeks or months.
That&#8217;s the power of what we can do with our large-scale research platform that includes millions of people from diverse backgrounds who have consented to participate in research. 
This relates to drug discovery in that it demonstrates the power of our research engine to discern important and relevant genetic associations quickly. But, of course, there are a number of steps and a lot more work that needs to happen after making those initial findings. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="914" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-914x1024.jpg" alt="" class="wp-image-29489" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-914x1024.jpg 914w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-268x300.jpg 268w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-768x861.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-785x880.jpg 785w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic.jpg 1026w" sizes="auto, (max-width: 914px) 100vw, 914px" /></figure>
 
<h6></h6>
<h6>23andMe Therapeutics</h6>
Traditional drug discovery and development is incredibly inefficient and expensive. Developing a drug is difficult. On average, it can cost <a href="https://jamanetwork.com/journals/jama/article-abstract/2762311">about $1 billion</a> according to some estimates and can take more than a decade. And the failure rate for new drug development is more than <a href="https://www.nature.com/articles/s41598-019-54849-w">90 percen</a>t.
But suppose you start that process with evidence that a naturally occurring genetic variant within your target gene is associated with a particular disease. Studies have shown that the chances of successfully developing a drug against that gene are significantly increased, perhaps by a factor of two. Given this type of evidence, you can focus on targets that have the most promise for success and thereby accelerate the pace of developing a drug. In an industry where just one in ten drugs makes it to patients, the potential impact on transforming this expensive and time-consuming process is enormous. 
To find genetic associations relevant to targets, large datasets are important. As approximately 80% of 23andMe customers consent to participate in research, 23andMe has a large enough database to identify many genetic associations across thousands of diseases. In addition, people who consent to participate in our research can remain engaged, allowing our scientists to ask additional questions over time. This can, for instance, allow us to study the progression of different health conditions. Or, if our scientists are interested in better understanding a specific disease condition, we can go back and re-contact people to ask for more detail with regard to that condition, which can further help us understand how genetic variants are causing that specific disease condition.
All this data helps us improve the kind of information we can give back to customers, but it also powers new genetic insights, and over time we hope it will lead to the development of new therapies for people who need them most.
There really isn&#8217;t anything like it right now. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="528" src="https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-1024x528.jpg" alt="" class="wp-image-29490" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-1024x528.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-300x155.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-768x396.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-880x454.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-1180x609.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel.jpg 2036w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6></h6>
<h6>Drug Discovery</h6>
Our research data covers more than 1,000 different conditions.
This gives our scientists a unique opportunity to think about how genetics can reshape the translational science needed to move a potential target into the clinic.
Along with using genetic associations to discover new drug targets, we can also use genetics to understand the best path for a target into the clinic. Specifically, we might see a given target has genetic associations with multiple diseases, and we can use that information to decide where the target might be most beneficial for patients. This information might also allow us to see if a potential drug target is more likely to have serious side effects, in which case we could decide to move on from that target.  
Combining the genetic data with multiple types of phenotypic data gives us a much deeper understanding of each specific gene and the underlying biology, allowing us to really focus our efforts on the targets with the highest chances of successfully becoming a drug. 
Of course, having a genetic association is still a very long way from having a drug! There is a tremendous amount of work to do, and a lot of questions to answer. Even if we find an association, is it in or regulating a gene that we suspect plays a role in the biological mechanism of that disease? Are there experiments we can do to confirm our suspicions? Can the gene in question actually be drugged? Are other groups already working on this gene? What is the unmet medical need in this disease, and do we think drugging this gene would be better than the existing standard of care? We need to answer all of these questions (and many, many more), but by starting with what we believe is the greatest genetic database in the world, we hope that we are able to bring the best opportunities forward in order to help patients in need as quickly as possible. 
<h6>My Background</h6>
I came to 23andMe about seven years ago, just as we formed the Therapeutics division. Previously I was an Assistant Professor of Genetics at Albert Einstein College of Medicine in New York City, where I worked on large-scale genetic analyses looking to understand the genetic underpinnings of human disease. 
When I joined 23andMe, the database was much smaller, but it was clear that the potential was there. Since then, 23andMe has grown such that instead of seeing handfuls of genetic associations for different diseases, we are now seeing many thousands. Seeing this growth has been tremendously exciting.
This enormous database has allowed us to start more than 40 programs — many of which in collaboration with GSK — to develop targets to potentially treat conditions in oncology, immunology, respiratory and cardiometabolic disease.
What is game-changing about what 23andMe is doing is that we can make novel insights that simply aren’t available anywhere else. It is rewarding to see one of those insights lead to the development of a drug in a phase 1 clinical trial.
 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="680" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-680x1024.jpg" alt="" class="wp-image-25740" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-680x1024.jpg 680w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-768x1156.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-585x880.jpg 585w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-784x1180.jpg 784w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-scaled.jpg 1701w" sizes="auto, (max-width: 680px) 100vw, 680px" /></figure>
 
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Adam Auton is the Vice President of Human Genetics at 23andMe and is responsible for computational approaches to target discovery via statistical genetics and computational biology. Before joining 23andMe, Adam was an assistant professor at Albert Einstein College of Medicine, where his group developed algorithmic approaches for using large-scale genomic data to understand human population genetics. Adam earned his DPhil in statistics from Oxford University, before completing his post-doctoral training at the Wellcome Trust Centre for Human Genetics at Oxford, and Cornell University.

23andMe’s Drug Discovery Process Explained

23andMe researchers found that direct-to-consumer DNA testing can help identify individuals who are at risk for the hard-to-diagnose genetic condition alpha-1 antitrypsin deficiency (AATD), a condition that increases the risk of lung and liver disease.&nbsp;
In some cases, testing not only helped flag a risk for individuals who may not have known otherwise, it also helped instigate important conversations with their healthcare provider.&nbsp;
<h6>Large Study</h6>
Published in the journal <a href="https://journal.chestnet.org/article/S0012-3692(21)04099-X/fulltext">Chest</a>, the study is the largest to date to examine both the prevalence of AATD and the behavioral impact of learning that one carries a risk variant for the genetic condition. Another striking finding from the study was that one-quarter of those diagnosed with AATD were not diagnosed until after receiving their 23andMe Alpha-1 Antitrypsin (AAT) Deficiency Genetic Health Risk report.*
“This suggests that testing is helping to identify people who might otherwise slip through the cracks,” said James Ashenhurst, Ph.D., a senior scientist on 23andMe’s Health research and development team.
<h6>Hard to Diagnose</h6>
Getting treatment early can mitigate medical complications but many individuals with the condition are unaware they have it.
“Alpha-1 (AATD) is notoriously difficult to diagnose with the gap between the first symptoms and diagnosis estimated to be up to 10 years typically,” said Ashenhurst, who was also a lead author on the paper.
While it is an inherited condition, people often are unaware of family history for AATD, and that may be why they were not screened for it before learning they carried the genetic variant, according to the study.
<h6>Alerting People to their Risk</h6>
Independent of this study, 23andMe researchers went back and conducted qualitative research with some of the participants to get a richer understanding of the impact of the report. Participants in the study were anonymous to protect their privacy but many echoed the sentiment that but for the report they wouldn’t have known of their risk.
“(N)ormally people don&#8217;t find out that they have this … until they have really serious emphysema,” said one of the study participants. “[My pulmonologist] said, probably if I had not done [23andMe], 10 years down the road, he would have been seeing me with some really disabling disease… I&#8217;m really grateful that I found out about it, and that I can do something about it.”
<h6>Many of Those with AATD Don&#8217;t Know It</h6>
It’s believed that AATD affects an estimated <a href="https://www.alphanet.org/what-is-alpha-1/">120,000 Americans</a>. Unfortunately, only about six percent of those with AATD are correctly diagnosed because the symptoms resemble chronic obstructive pulmonary disease (COPD), or emphysema, and it often takes years.&nbsp;
Two genetic variants in the SERPINA1 gene — called PI*Z and PI*S — lead to more than 95 percent of all cases of AATD. Those variants can decrease the transport of protein alpha-1 antitrypsin enzyme from the liver to the lungs. The protein is sent through the blood to the lungs to help protect lung tissue. Low levels in the lungs can lead to damage. In contrast, abnormal levels of alpha-1 antitrypsin in the liver can cause damage to the liver. Symptoms may include shortness of breath, wheezing, or infections in the lungs or liver. Other symptoms might include yellow skin, fatigue, rapid heartbeat, vision problems, or weight loss.&nbsp;
Fortunately, there are treatments and therapies for AATD, but an early diagnosis can make a massive difference in the outcome.
Another participant in the unpublished qualitative research study told our researchers that even though she regularly experienced many of the symptoms for AATD, it wasn’t until she saw her 23andMe report and talked to her doctor about it that she was diagnosed.&nbsp;
“Every time I got a cold, it would go straight to pneumonia,” she said. “So when I did [23andMe] and [23andMe] identified a risk for [AATD] … all of a sudden a key unlocked. It was like this is what&#8217;s been going on, so I immediately booked an appointment with my doctor [and] brought it in.”
<h6>The Takeaway</h6>
The study published this week was combined with clinical follow-up over two years and included data from more than 195,000 individuals. More than 1,450 of whom were diagnosed with AATD. Because of the follow-up portion of the study, the researchers learned more about the impact the information had on those who knew of their risk through direct-to-consumer genetic testing.
Individuals with risk variants were considerably more likely to discuss the results with their health care providers and family, for instance. For some, this prompted family members to also get tested for AATD. In addition, the results also appeared to prompt individuals to make behavior changes to reduce their risk. Those with risk variants were more likely to report that they reduced smoking and alcohol consumption for instance.
“There’s a lot to take away from this study,” said Ashenhurst. “Beyond identifying people who might not have known of their risk otherwise, the study shows the impact this information has on people and their family. It appears to motivate them to take the kinds of actions you would want them to take to reduce their risk.”
23andMe Health and Ancestry Service customers can see their Alpha-1 Antitrypsin (AAT) Deficiency Genetic Health Risk report <a href="https://you.23andme.com/reports/ghr.aatd/">here</a>.
Not yet a customer? You can find out more about AATD <a href="https://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency">here</a>, or go <a href="https://www.23andme.com/dna-health-ancestry">here</a> to learn more about 23andMe.
Read Claudia&#8217;s AATD story <a href="https://blog.23andme.com/health-traits/a-medical-mystery-solved/">here</a>.
<hr>
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. &nbsp;The Alpha-1 Antitrypsin (AAT) Deficiency genetic health risk report is indicated for reporting of the PI*Z and PI*S variants in the SERPINA1 gene and describes if a person has variants associated with AAT deficiency and a higher risk for lung and liver disease. The variants included in this report are most common and best studied in people of European descent.

AATD Study

23andMe’s research that has identified genetic variants associated with the loss of smell or taste due to COVID-19 was published today in the journal <a href="https://www.nature.com/articles/s41588-021-00986-w">Nature Genetics</a>. 
As part of 23andMe’s ongoing research on COVID-19, the findings were<a href="https://blog.23andme.com/23andme-research/scientists-find-genetic-link-to-loss-of-smell-among-covid-19-patients/"> first reported</a> in June of last year. The paper offers more detail on the study, which identified variants near two olfactory genes — UGT2A1 and UGT2A2.
&#8220;We&#8217;re delighted to see this manuscript published,” said Adam Auton, 23andMe’s Vice President for Human Genetics. “It is another example of how data contributed by 23andMe customers can provide unique insights into COVID-19. It really wouldn&#8217;t be possible without our customers, and we&#8217;re extremely grateful to everyone that participated in this research.&#8221;
<h2>Common Symptoms</h2>
Loss of smell and or taste, also called anosmia, is a hallmark symptom of COVID-19. It is often the earliest indication of infection, and in some cases, the only symptom. An individual with one copy of the variant is about 11.5 percent more likely to lose their sense of smell or taste if infected compared to someone with zero copies.
For this work researchers* conducted a genome-wide association study (GWAS) using data from more than 69,000 23andMe customers who consented to participate in research.  Along with identifying variants implicating the two olfactory genes, the study also noted that loss of taste and smell after COVID-19 was most common among women and younger research participants. It was less common among research participants of East Asian or African American ancestry.
<h2>Long Haulers</h2>
The research is part of ongoing work by 23andMe since the beginning of the pandemic in 2020. Among the areas of study is research on<a href="https://blog.23andme.com/23andme-research/23andme-covid-study-published/"> the role blood type plays</a> in severity and susceptibility to the virus, and insights into the genetics that influence<a href="https://blog.23andme.com/23andme-research/reaction-to-covid-vaccine/"> different reactions</a> to COVID-19 vaccines. In addition, researchers are currently studying so-called long haulers, individuals with continued health effects weeks, months or longer after infection, to determine whether genetics plays a role.
For the loss of taste and smell study, the researchers found that about two-thirds of participants who tested positive for the virus reported loss of smell or taste. In addition, the researchers working on this study also ran separate GWAS for individuals of European, Latino, African American, East Asian, and South Asian ancestries, and then combined the data via a meta-analysis. The researchers found the risk variants for loss of taste or smell most common among people of European ancestry, and least common among those of East Asian ancestry.
Because the novel coronavirus SARS-CoV-2 first enters the body and accumulates in olfactory support cells, the findings may offer researchers important insights into the biological pathway for infection. 
To read the full paper go to <a href="https://www.nature.com/articles/s41588-021-00986-w">Nature Genetics</a>.  You can learn more about 23andMe&#8217;s COVID-19 study <a href="https://you.23andme.com/covid19-study/">here</a>.
Many thanks to the over 1 million research participants who answered our questionnaire and made this research possible. 
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*The 23andMe COVID-19 research team includes: Adam Auton, Adrian Chubb, Alison Fitch, Alison Kung, Amanda Altman, Andy Kill, Anjali Shastri, Antony Symons, Catherine Weldon, Chelsea Ye, Daniella Coker, Janie Shelton, Jason Tan, Jeff Pollard, Jey McCreight, Jess Bielenberg, John Matthews, Johnny Lee, Lindsey Tran, Maya Lowe, Michelle Agee, Monica Royce, Nate Tang, Pooja Gandhi, Raffaello d’Amore, Ruth Tennen, Scott Dvorak, Scott Hadly, Stella Aslibekyan, Sungmin Park, Taylor Morrow, Teresa Filshtein Sonmez, Trung Le, and Yiwen Zheng.

A logo for 23andMe's COVID-19 Research Study

Research — Page 12