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 Blog

23andMe Blog Team

23andMe Launches Sarcoidosis Study

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>
 
<hr />
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

If there’s a sweet spot between discovery and medicine — between answering the big scientific questions of the day, and administering the small but personal care required of the best physicians — then John Matthews is there.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2022/02/HUmans_23andME_me-1-36-1-576x1024.jpg" alt="" width="400" height="711" class="alignright wp-image-29473" />
That has a lot to do with his unique background and experience.
 Born in Malawi to a dad who was an agricultural scientist with a Ph.D., and a mom who worked as a hospital nurse, John grew up curious about both science and medicine. (His parents met in Rhodesia while John’s father was flying in a helicopter over farms and spotted his future wife in a red dress having a picnic among the white of a cotton field.) One of John’s uncles was also a doctor, and John developed a natural affinity toward helping people, even performing first aid on the playground in grade school.
“I learned various solutions to deal with simple problems like how to manage nettle stings or remove grit from the eye, washing grazed knees, bee stings, etc.,” he said. “I was very curious about how the body worked, and why it didn’t.”
Now the senior clinical development fellow on 23andMe’s Therapeutics team, John is still wrestling with those questions. He is both a physician who trained in pulmonary medicine and a scientist with a Ph.D. from the National Heart and Lung Institute at Imperial College in the UK. He worked directly with patients in an intensive care unit at a hospital in London, and after leaving clinical practice he spent years working at companies developing medicines meant to treat people with the kind of serious illness he often attended to on the ward.
And he still draws on his early years as a doctor for inspiration. John points to a handful of patients who he said fundamentally changed him and continue to motivate him. One, in particular, was a dying man with HIV who struggled simply to swallow food. Although there were new anti-retroviral treatments, those treatments didn’t become widely available for patients for another ten years. And those lifesaving drugs weren’t available to help this patient. For John, who cared for this patient as he died, it cemented the need to develop medicines faster.
“It was hard to be in a situation where novel therapeutics were so desperately needed and this patient is a constant reminder of the urgency to find new medicines for severe unmet needs,” John said. 
That’s a central mission for <a href="https://www.23andme.com/therapeutics/">23andMe’s Therapeutics</a> efforts and part of what drew John to work here.
On a day-to-day basis, John focuses on refining 23andMe drug discovery. Some of that involves developing plans for good clinical practice for such things as safety and data management. But he also brings understanding from those early days on the ward caring for people who were sick or dying. He has been instrumental in 23andMe’s efforts studying rare diseases for instance and explaining the science to patient advocacy groups.
We sat down with John to talk about his career, why he came to 23andMe, and what drives him as a scientist and physician.
<h6>You were born in Malawi, can you tell us a little bit about that, and about where you grew up?</h6>
John: “My parents were living in Malawi — Dad started working as an entomologist at Imperial College, in 1967 and through a UK government grant was based in the newly independent country Malawi to study cotton pests. Mum was working for a hospital as a nurse and Dad was doing his Ph.D. 
We left when I was almost five. But I went back just before I qualified as a doctor, visiting Zimbabwe and Malawi, working on a project comparing asthma in urban and rural areas. 
I visited the Makoka research station and the house I grew up in. I trekked out to the countryside and with various guides and contacts found the man who had taken care of me as a child. I went back daily for a few days buying fertilizer and new wellington boots for him — feeling guilty the whole time. He can’t speak English but he had a photo of me in his kitchen. I feel bad that (our family) didn’t do enough for him. My effort now is to regularly fund Kiva loans for Malawians (<a href="http://www.kiva.org">www.kiva.org</a>) and support various efforts in Malawi  — but it always feels like a drop in the ocean.”  
<h6>You trained in medicine and practiced for a while. Why did you go into medicine?</h6>
John: “My mum was a nurse and my uncle Seamus was a pathologist in Dublin. Between my mum and my uncle “medicine” was referred to a lot. I grew up knowing that medicine was a responsibility to care for anyone in need. When I was at school (aged 7-to-10) kids used to come to me in the playground with injuries – and I learned various solutions to deal with simple problems – like how to manage nettle stings or remove grit from the eye, washing grazed knees, bee stings, etc. I was very curious about how the body worked and why it didn’t.”
<h6>You’ve said before that you’re interested in physiology, body metabolism, and aging. Why is that?</h6>
John: &#8220;I did an extra year at medical school to study physiology. I wanted to go deeper into science. Physiology seemed to be the best way to actually look into how the body worked and it seemed a lot more fun than learning more anatomy or biochemistry. The physiology faculty at my medical school were always the best lecturers. The experiments to make discoveries were also more accessible than imagining what was happening in a chemical reaction. I even took part in <a href="https://pubmed.ncbi.nlm.nih.gov/1400059/">human physiology experiments</a> as a subject. 
I was encouraged to study areas with little scientific consensus, such as the control mechanisms of the exercise ventilatory response. I worked in an intensive care unit in London called the Mead ward. It was set up by Professor Ron Bradley, the first full-time intensive care clinician in the UK. He also ran the ICU at St Thomas’ Hospital, London. When I was on the ward, Ron, who had retired, still came in every week to give us tutorials. He had developed a way to estimate cardiac output through his work deriving simple equations that he had developed with quantitative data from human experiments. 
Without going into too much detail, the takeaway for me was that a close physical examination of the patient can give quantitative data on the circulatory state of the patient. The challenge is the ability to capture clinical information and lump or split patients in ways that can help us get to a molecular understanding of disease. 23andMe has pioneered capturing self-report data from the patient, but we haven’t yet mastered capturing the reports of the doctors and nurses that look after them.” 
<h6>What are your hopes for the work you are doing?</h6>
John: “My hope is to see our work yield significant new medicines in the shortest time frame possible.
I’m also very interested in what 23andMe can do around rare diseases. I hope we can communicate the potential of 23andMe to make genetic findings for a large number of rare diseases for which there is very little known currently. 
We’ve recently finished <a href="https://www.medrxiv.org/content/10.1101/2021.06.09.21258643v1">a paper</a> illustrating that potential. There are more than 7,000 rare diseases. Being able to find a genetic basis for some of these conditions could offer valuable insights into diagnosis and treatment. We have the potential to do that for many conditions if we are able to find enough individuals with these conditions to participate in our research.”  
&nbsp;

Patients Inspire Therapeutics Scientist

Kipper Fletez-Brant, a computational biologist with our Therapeutics division, thought he’d be a physicist one day.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/09/kipper_pic_2-196x300.jpg" alt="" class="alignright wp-image-29155 size-medium" width="196" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/09/kipper_pic_2-196x300.jpg 196w, https://blogcms.23andme.com/wp-content/uploads/2021/09/kipper_pic_2-768x1176.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/09/kipper_pic_2-669x1024.jpg 669w, https://blogcms.23andme.com/wp-content/uploads/2021/09/kipper_pic_2-575x880.jpg 575w, https://blogcms.23andme.com/wp-content/uploads/2021/09/kipper_pic_2-771x1180.jpg 771w, https://blogcms.23andme.com/wp-content/uploads/2021/09/kipper_pic_2.jpg 1288w" sizes="auto, (max-width: 196px) 100vw, 196px" />Growing up in Phoenix, Arizona, Kipper escaped the heat reading “hard-sci-fi novels” with mind-bending plots woven with currently understood science about things like dark matter, wormholes, and the bending of the space-time continuum.
“But I realized at some point I liked living things and physics wasn&#8217;t the best fit,” he said.
Physics is sometimes referred to as the philosopher’s science. So perhaps it was appropriate that instead of a hard science, Kipper tackled other kinds of hard questions and studied philosophy as an undergraduate at St. John’s College.
After four years of wrestling with the eternal questions of life, he wanted something different.
“I wasn&#8217;t keen on the fact that there aren&#8217;t answers in philosophy,” Kipper said.
And that in turn motivated him to “think about science again.”
After graduation, while doing clerical work for an ophthalmologist, a doctor who noticed his aptitude and interest suggested he consider bioinformatics.
“I learned that was a way to put math and biology together,” Kipper said. “There was just one catch. I hadn’t studied either.”
It’s what motivated him to go back to school and break into the field. What followed was a Masters in Biotechnology giving him crash courses in computer science and molecular biology. He went on to work in a genetics lab and then spent time at the <a href="https://www.niaid.nih.gov/about/vrc">National Institutes of Health’s Vaccine Research Center</a>, working on data related to vaccine trials. Work that he’s been thinking about on a daily basis since the pandemic.
“Our mission was to understand, on a molecular level, what changes vaccines caused, so that we could make better, more effective vaccines,” Kipper said. 
The mission was important but Kipper wanted to lead research himself, and so he returned to school, but this time for a Ph.D. in Human Genetics from the <a href="https://www.hopkinsmedicine.org/institute-genetic-medicine/">McKusick-Nathans Institute of Genetic Medicine</a> at Johns Hopkins University’s School of Medicine and a Masters in Statistics from the School of Public Health.
Now three years into his work at 23andMe, Kipper is a critical part of the team of scientists and computational biologists looking for potential drug targets. One of the projects that Kipper is working on is a research effort called the<a href="https://blog.23andme.com/23andme-research/black-representation-in-research/"> Black Representation in Genomic Research Study</a> (BRGR) in which scientists are studying the genetics of gene expression with the aim of improving diversity in biomedical research. Ultimately, the aggregated and de-identified RNA and whole-genome sequencing data from the project will be made available to qualified researchers through the NIH’s dbGap. The hope is that this will assist those developing more effective drugs that can treat conditions and diseases affecting members of the Black community who have been underrepresented in traditional research.
It’s just one of many examples of what excites Kipper about working at 23andMe. For a scientist still fascinated by the potential of genetics to lead to novel therapies, he said being part of <a href="https://therapeutics.23andme.com/">23andMe’s Therapeutics </a>division offers rare opportunities.
“The genetic and phenotypic data at 23andMe is unparalleled,” Kipper said. “There is simply no other resource that compares to the 23andMe database in terms of the scale of phenotypes surveyed or size of the cohort.”
As part of an occasional series about scientists working at 23andMe, we sat down with Kipper to talk more about computational biology, 23andMe, and what it’s like being a scientist in 23andMe’s Therapeutics division.
<h6>Where did you grow up?</h6>
I grew up in Phoenix, AZ. I remember when it hit 122F in the early 90s. It grounded airplanes, many people had heatstroke. We didn&#8217;t have AC at the time, so my mom sprayed us with the hose (this motivated my parents to get AC)
<h6>What did you study as an undergrad?</h6>
I studied philosophy at St. John&#8217;s College, a small liberal arts college in Annapolis, Maryland. (It is directly across the street from the United States Naval Academy).
<h6>Did you always want to be a scientist?</h6>
Intermittently. As a child, I thought I might want to do physics because I read a lot of &#8220;hard&#8221; sci-fi where they talked about the physics of things like space travel. But I realized at some point I liked living things and physics wasn&#8217;t the best fit. I did philosophy because at least I thought about difficult things a lot, but I wasn&#8217;t keen on the fact that there aren&#8217;t answers in philosophy, which motivated me to think about science again.
<h6>Was your interest inspired by a person or a book or an experience?</h6>
After undergrad, I was working as an administrative assistant in a North Baltimore suburb for an ophthalmology office, and one of the doctors told me I should look at bioinformatics. I learned that was a way to put math and biology together. The catch was I hadn’t studied either. But that motivated me to look around for ways to break into the field.
<h6>Why did you get two master’s degrees (in Statistics and Biotechnology) and was there something that changed to prompt you to get your Ph.D. in human genetics?</h6>
I somehow talked my way into my first masters, in Biotechnology at Johns Hopkins, despite having a degree in philosophy and no scientific training. I was essentially making up for lost time. I studied computer science and molecular biology during this degree, while also interning as a laboratory technician in a molecular genetics lab. It really set me up for success, and after graduating I took a job as a data analyst at the National Institutes of Health’s (NIH) Vaccine Research Center, mainly working on datasets that came from participants in vaccine trials. Our mission was to understand, on a molecular level, what changes vaccines caused so that we could make better, more effective vaccines.
<h6>Why did you leave the NIH?</h6>
While the NIH was a great job with really smart people, I knew I wanted to lead research projects, and I did not have the training for that. I also missed working in genetics and genomics, and so I enrolled in the Human Genetics program at the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. While there, I knew I needed serious training in statistics to match the biological training from my Ph.D. program, so I did my Ph.D. work with Kasper Hansen, a professor in the Department of Biostatistics in the School of Public Health, and also did a master&#8217;s degree in biostatistics. In addition, I was a fellow of the Maryland Genetics, Epidemiology and Medicine (MD-GEM) training program, where I also trained in genetic epidemiology. 
<h6>What are the kinds of questions or problems you like to study?</h6>
I really like difficult problems that don’t have clear answers and make you think in several disciplines at once. At the NIH, I developed a tool for doing quality control of vaccine data that uses statistical concepts typically used in geology. While a Ph.D. student, I worked on statistical methods to find genetic variants that impact what 3D structure DNA actually takes when it is in a cell.
<h6>What attracted you to working for 23andMe’s Therapeutics team?</h6>
At the NIH I was working very closely with clinical research, and I knew that after my Ph.D. I wanted to return to more translational work. 23andMe, where everything is based on genetics, was a natural choice for me. And to date, I have used every part of my training, from molecular genetics to epidemiology to statistics, to answer questions about how to take our genetic findings and identify drug targets using them. 
<h6>Could you explain a little bit about your job analyzing functional genomics data and how it plays a role in characterizing potential drug targets?</h6>
At 23andMe, everything we do starts with genetics.  We know which genetic variants are associated with which diseases. The problem is that knowing that some genetic variant is associated with a disease often tells you nothing about how the variant causes disease, nor what you might do about it. The Computational Biology group helps generate ideas about how diseases are caused by genetic variation, and which genes might be good drug targets, by using our genetic data in conjunction with other biological data, such as the gene expression profiling we did in the BRGR study. Specifically, we often ask questions about whether particular variants affect the expression or function of possible target genes — maybe a particular gene is over-expressed in some diseases with an unmet medical need, for example.
<h6>What is unique about working at 23andMe either in terms of the kind of data you’re working with or the culture?</h6>
The genetic and phenotypic data at 23andMe is unparalleled. There is simply no other resource that compares to the 23andMe database in terms of the scale of phenotypes surveyed or the size of the cohort. Many GWAS that we run yield signals seen in no other cohort. In this context, drug development is very exciting, in that how to use genetic information to hone in on a drug target is a topic of active research in the community. 23andMe Therapeutics is breaking ground on hard questions and is one of the leaders in this space.
<h6>How is what you’re doing now different from what you were doing at St. Johns, or different from other jobs you’ve had?</h6>
My role at 23andMe is closer to the drug/therapeutic development process than any other job I’ve had, which was a huge draw for me, to be honest. At Johns Hopkins, I worked on questions that were focused on understanding basic biology, and at the NIH I was downstream of the development process. Here I am actively helping the Therapeutics team find new targets.
<h6>What are your hopes for the work you are doing?</h6>
I am optimistic that we will find “the best” way to use genetics to inform drug discovery. Our comprehensive dataset allows us to target a wide variety of diseases, and I am hopeful we can make an impact on many of them and the lives of people living with those diseases.

Tackling Tough Problems with the 23andMe Therapeutics Team

Xin Fang’s interest in science started at the dinner table, listening to her parents talking about what they did each day. 
Both her mom and dad are plant scientists. Her mom focuses on genetics, and her father on the environment. They worked long hours, but they would come home enthused. And, sitting with her parents at the table for the family meal, Xin listened as her mom and dad engaged in conversations about the latest discoveries made or problems solved. It fascinated her.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/09/XinFang1-200x300.jpg" alt="" class="alignright wp-image-29144 size-medium" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/09/XinFang1-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2021/09/XinFang1-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2021/09/XinFang1-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2021/09/XinFang1-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2021/09/XinFang1-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/09/XinFang1-scaled.jpg 1706w" sizes="auto, (max-width: 200px) 100vw, 200px" />
<h3>The Wonders of Human Biology</h3>
Now a computational biologist in 23andMe’s Therapeutics division, Xin said her parents’ passion for science fueled her own ambition. By high school she knew she wanted to be a scientist, she just wasn’t sure about her path. Moving from China to the United States to attend Johns Hopkins University, Xin studied chemical and biomolecular engineering. It was there that her interest in bioinformatics took root. She was fascinated by the “mystery of the human body and how it works,” she said. Xin was sucked into the fact that data and bioinformatics offered a door to understanding parts of the mystery of human biology.
“I love the fact that we can develop new techniques to understand the mechanisms behind human biology,” Xin said.
Now a little over a year into her work at 23andMe, Xin is deep into collaborating with fellow computational biologists and bench scientists to help find potential drug targets to pursue. Computational biology, data science, and machine learning play a critical role in 23andMe’s drug discovery process. Our scientists have the great fortune of gleaning insights from what is one of the largest genetic and phenotypic datasets in the world.
For Xin, the attraction of coming to work at 23andMe wasn’t just that she’s interested in genetics or that she sees the promise of 23andMe’s data helping to accelerate the development of new treatments, it’s also because drug discovery at 23andMe is driven by data, which allows computational biologists like her to propose new research directions and make major contributions. The size and scale of our dataset enables rapid discoveries.
As part of an occasional series about scientists working at 23andMe, we sat down with Xin to talk about computational biology, 23andMe, and what it’s like being an early career scientist here.
<h6>Did you always want to be a scientist?</h6>
Pretty early on I did. By high school, I knew I wanted to do something in biochemistry but I wasn’t sure what.
<h6>Was your interest in science inspired by a person or an experience?</h6>
Definitely it came from my parents. They were both scientists and very passionate about it, and it had a great impact on me. They worked a lot but they were happy about what they were doing. We spent a lot of hours talking about their work over dinner.
<h6>You studied chemical and biomolecular engineering at Johns Hopkins, what prompted you to do your doctoral work in bioengineering?</h6>
I took a gap year working at Genentech after my undergraduate studies. That and my experience during undergrad helped me realize that I was more interested in bioinformatics and computational modeling.
Consider the human body. It’s this perfect mystery that it works in a way that it does, and we don’t totally understand it. But when you bring in high-throughput data, especially from large genomics datasets or next-generation sequencing, you start to see more clearly different biological mechanisms at play. That’s the most fascinating part. And I love that we can use these new techniques and assays to try and understand it. It’s just awesome.
<h6>Why did you focus on studying the gut microbiomes and IBD during your doctoral work at UCSD?</h6>
The gut microbiome is a significant part of our body but it hasn’t been well understood before. It interacts with the rest of the human body in a lot of different ways including things like exchanging metabolites and breaking down medicines. And in recent years it has been discovered that the gut microbiome is associated with several diseases and inflammatory bowel disease (IBD) is one of them.  Basically, what you observe is an imbalance in the microbiome where there is a reduction in the beneficial microbes but an increase in pathogens. My thesis looked at characterizing if there are any specific pathogens associated with developing inflammatory bowel disease. The second part of what I did was to look at how the microbiome could affect the treatment for IBD.
<h6>What attracted you to working for 23andMe’s Therapeutics team?</h6>
I was a 23andMe customer even when I was a broke Ph.D. student. And I’m in bioinformatics and a huge fan of genetics. I’ve always been a strong believer that personal genetics is going to make its way into modern medicine, and become a part of standard practice.
So, when I was looking for a job, 23andMe was a company I was really interested in. But to be honest I didn’t know much back then about 23andMe’s Therapeutics program. I didn’t know about 23andMe’s unique approach to target discovery or the drug pipeline. It wasn’t really until the interview and until I had the opportunity to talk to the Computational Biology team that I fully understood what the Therapeutics program was about and it was really exciting.
A major advantage we have is the size of our database. And this is extremely important in terms of discovery because we have better power to detect genetic signals useful for identifying drug targets that other databases can’t. And of course, our data comes from customers who consented to participate in research and who we can contact in the future if we need to. So, that’s another advantage. 
<h6>Describe a little bit about some of what you do in your day-to-day work.</h6>
I can divide my current role into two different aspects that support our therapeutics discovery and development process. The first is to help with data analysis in support of identifying biomarkers that could be useful for clinical trials. I am also working on developing automatic reports for later stage programs. 
And the second part of my job is more upstream, on integrating different datasets to improve the variant (GWAS hit) to target gene mapping process. We want to identify genes that are actually affecting the disease and understand the mechanism of action.
<h6>What’s different about working here?</h6>
For me, I guess what influenced my decision to come here is that 23andMe is doing genetics-based, data-driven discovery. So as part of the Computational Biology team, you can make major contributions to drug discovery whereas in a more traditional biotech/pharma setting Computational Biology would play much more of a supporting role.
As a scientist, I am very interested in doing research and exploratory projects that are intellectually challenging and at 23andMe we have the opportunity to do these things.
<h6>How have you managed your work-life balance over the last year during the pandemic?</h6>
I’m working primarily from home but I go to the office two or three times a week. At first, it was hard because I started at 23andMe during the shelter in place while we were all working from home. But the team has been really good about meeting each week and making sure questions are answered so I don’t feel like I’m by myself all the time. And there is a good work-life balance.
<h6>What interests you outside of work?</h6>
I used to play a lot of badminton. I actually trained for it as a kid, but stopped playing in grad school and shifted over to table tennis. In the office we have a table tennis tournament going on after the work hours, so that’s fun. And during the pandemic, I got a puppy so that’s occupying my time right now too.

Helping to Drive Discovery in 23andMe’s Therapeutics Division

Among his many jobs as 23andMe senior scientist in statistical genetics, Suyash Shringarpure, Ph.D. leads some of our rare disease discovery and prediction work.
But since first coming here in 2016, he’s been involved in a wide variety of projects all leaning on his extensive background in machine learning. Suyash came here after doing post-doctoral work in Carlos Bustamante’s Lab at Stanford University where he worked on genetic data privacy, ancestral inference, and next-generation genetic sequencing. He received his Ph.D. in Machine Learning from Carnegie Mellon University, and he received his undergraduate degree in Computer Science and Engineering from the Indian Institute of Technology in Bombay.
<div id="attachment_28941" style="width: 228px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28941" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-218x300.jpg" alt="" class="wp-image-28941 size-medium" width="218" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-218x300.jpg 218w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-768x1056.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-745x1024.jpg 745w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-640x880.jpg 640w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-858x1180.jpg 858w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-scaled.jpg 1862w" sizes="auto, (max-width: 218px) 100vw, 218px" />Suyash Shringapure, Ph.D., a 23andMe senior scientist, and statistical geneticist.</div>
There’s a lot we could talk about because his work touches so many parts of the company — from research and development for our health product team, to work in support of Therapeutics, to some of the backend technical efforts related to things like the phasing of genetic data. But we sat down, virtually, to talk to Suyash specifically about his work on rare diseases at 23andMe. This is one in an occasional series we’ve been doing over the last few months looking at rare diseases. Suyash recently spoke about his research at the National Press Foundation as part of <a href="https://hopin.com/events/rare-and-mystery-diseases">a session on rare diseases</a>. (We will post a recording of the session when it becomes available.) 
In the spring we published new research led by Suyash looking specifically at the unique way 23andMe can<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> study rare diseases.</a> It offered some unexpected insights into these hard-to-study conditions.
“This approach will enable us to discover new genetic associations across multiple populations much faster than could be done otherwise,” he said at the time.
Read on to find out more about what he had to say:
<h6>Even before you came to 23andMe, you were known for using machine learning and statistical methods for work on a broad range of different scientific problems. Why is machine learning such a powerful tool in genetics and biology and for the study of disease?</h6>
Genetics has become a data-rich field in the last couple of decades. There are now many large human genetic (and gene expression etc.) datasets available for researchers. Because the genetic risk for most common diseases is an aggregate of many different genetic variants — sometimes hundreds even thousands of variants — machine learning and statistical methods offer a powerful tool in calculating disease risk. In genetics and biology, these algorithms can infer the small contributions of many genetic variants and combine them appropriately to describe disease risk.
<h6>Why are you and other scientists at 23andMe so interested in rare diseases, and why are we studying<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> in particular?</h6>
Though each rare disease only affects a small number of people, there are nearly 7000 known rare diseases, and the total number of people affected by rare diseases is quite large. It’s estimated that about 20-25 million Americans and 300 million people worldwide are living with a rare disease. In addition, about 70 percent of all rare diseases are genetic, while only 5 percent of all rare diseases have approved treatments. So there is a large unmet need for therapeutics for rare diseases, which is why we at 23andMe are so interested. Beyond the need, our large database is also well-suited for studying rare diseases. It’s often difficult to study rare diseases because it is a challenge to find enough individuals to participate in research. But 23andMe now has enough people who have consented to participate in research that we can more quickly gather enough individuals with a specific rare disease to find statistically robust genetic associations.
Idiopathic pulmonary fibrosis (IPF) is a life-threatening, progressive lung disease with a median survival of three to five years after diagnosis. The genetics of IPF is not well-understood, and at present, there are only two FDA-approved therapies, and unfortunately, neither is always well-tolerated by patients. We believe we can use our research model to find insights into the disease, and that’s why we started our <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">IPF Study</a>.
Similar to IPF, Systemic sclerosis is a rare disease for which there is an unmet need for treatments. Systemic sclerosis is an autoimmune disease that affects the skin and internal organs, and we don’t fully understand the genetics of the disease.  Much like with our IPF Study, we launched our <a href="https://www.23andme.com/systemic-sclerosis-study/">Systemic Sclerosis Study</a> to better understand the genetics of the condition and to improve our ability to discover new genetic associations for these diseases.   
<h6>You completed an <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">interesting study</a> using 23andMe’s unique research model to study rare diseases. Were those findings a surprise when you made them?</h6>
Some of them were definitely a surprise. We have lots of experience in studying common diseases, where we need to have tens of thousands of affected individuals in our study to find statistically significant genetic associations. It was a surprise for us when we were able to find genetic associations in studies of rare diseases with only tens of affected individuals. Another surprise was finding that common genetic variants show association with rare disease risk. Previously, it has been found that rare genetic variants cause rare diseases, so this was unexpected. Unsurprisingly, we found that similar regions of the genome contribute to risk in different populations and that aggregating data across all populations enables us to make the most discoveries. 
<h6>What makes 23andMe’s research model unique for studying rare diseases?</h6>
The main bottleneck in studying rare diseases is finding enough people with the condition to participate in the research. 23andMe’s large research-consented cohort means that even for a disease that affects one-in-100,000 people, we can find nearly 100 affected individuals for our analysis. The self-reported data-collection model we have also allowed us to study thousands of diseases at once, rather than studying one disease at a time. So for example, in the study we just published on the preprint server <a href="https://www.medrxiv.org/content/10.1101/2021.06.09.21258643v1">MedRxiv</a>, we did genome-wide association studies (GWAS) on 33 different rare diseases. For three of those rare diseases, our GWAS was the first-ever done on those conditions. So the unique features of 23andMe’s research database allowed us to find the results included in our study. Another unique feature is that through additional surveys, we can also find associations of rare diseases with other traits/diseases. For example, <a href="https://blog.23andme.com/23andme-research/insights-from-ipf-study/">early insights</a> from our IPF study show that IPF patients are more likely to report having gastrointestinal reflux, shortness of breath, depression, and anxiety. 
<h6>What are you currently working on?</h6>
On the rare disease front, we are continuing to recruit IPF and Systemic sclerosis patients for our ongoing studies. We are also studying genetic associations for more diseases, as our cohort keeps growing. Outside of that, my team and I are working on trying to improve disease risk prediction, specifically on how to make genetic risk predictions accurate for all populations, and how to combine genetic and non-genetic data for risk prediction.
<h6>Have you learned anything interesting from your own 23andMe results?</h6>
I’ve never been a regular coffee drinker, even in graduate school, when many people are heavy coffee drinkers. Turns out I’m genetically less likely than average to drink caffeine, according to my 23andMe Caffeine  Consumption Wellness report! 
 
&nbsp;

Talking About Rare Disease with Senior Scientist Suyash Shringarpure

This month marks the two-year anniversary of 23andMe’s collaboration with GlaxoSmithKline (GSK). In <img loading="lazy" decoding="async" class="wp-image-28361 size-medium alignright" src="http://35.88.189.111/wp-content/uploads/2020/07/Therapeutic-300x119.jpg" alt="" width="300" height="119" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/07/Therapeutic-300x119.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/07/Therapeutic.jpg 564w" sizes="auto, (max-width: 300px) 100vw, 300px" />July 2018 the two <a href="https://blog.23andme.com/news/collaboration-with-gsk/">joined forces</a> to focus on increasing the probability of success in drug development by prioritizing candidates validated by human genetics.
<a href="https://www.biorxiv.org/content/10.1101/513945v1">Studies</a> show that treatments that have been validated with genetic data are at least twice as likely to succeed when compared to traditional approaches.
Ultimately, the goal of the collaboration is to drive the discovery of novel, genetically validated drug targets to bring new transformational medicines to patients. There are now close to 30 therapeutic targets that have been identified in oncology, immunology, neurology, cardiovascular and metabolic disease. The majority of these preclinical programs are in the target validation phase, and the remainder are in early drug discovery programs.
“Since our inception, 23andMe has strived to help people access, understand, and benefit from the human genome,” said Anne Wojcicki, 23andMe co-founder, and CEO. “We launched our research program more than a decade ago with the idea that we could make a significant impact on drug discovery with a crowdsourced genetic community. The collaboration with GSK accelerates us making that a reality.”
In a significant milestone for the collaboration, GSK and 23andMe have advanced the first joint asset into the clinic, a potential first-in-class cancer treatment that was discovered by GSK and being co-developed by the two companies. GSK and 23andMe were working on similar programs independently prior to the collaboration; GSK’s was chosen to advance to the clinic. The axis was genetically validated by 23andMe using a proprietary algorithm that compares potential drug targets to a unique data set from the 23andMe research platform. This data set comprises detailed genetic information integrated with thousands of phenotypes (non-genetic information) to help uncover genetic patterns, enabling scientists from 23andMe and from GSK to identify potential therapeutic candidates.
The benefit of this exclusive collaboration goes well beyond the programs. The collaboration is bringing together great science, new technology, and outstanding people to steer research where the data shows we can have the most impact. 23andMe brings large-scale genetic resources, antibody and protein engineering, and substantial biology experience and with its 300-year history, GSK provides tremendous expertise and resources to turn new ideas into new medicines and vaccines.
Data studied as part of the collaboration — and for all 23andMe research — is contributed by customers who explicitly opt-in to a separate research consent. 23andMe scientists study the data in-house and share summary statistics, stripped of any personal information. Collaborating with GSK allows 23andMe to much more quickly deliver on what many customers have been asking for — better treatments for diseases where current therapies are inadequate today.
“We give our customers the opportunity to participate in <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">novel research programs</a> across a wide variety of areas,” said Anne. “When we talk with customers who are suffering from a disease, they are hoping our research community can impact their lives, or future lives, by understanding the genetic cause of a disease and possibly finding a treatment.”

23andMe and GSK Clinical Trial

<div id="attachment_27155" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27155" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-300x300.jpg" alt="" class="wp-image-27155 size-medium" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-1024x1024.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-1180x1180.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-980x980.jpg 980w" sizes="auto, (max-width: 300px) 100vw, 300px" />Kenneth Hillan, M.B., Ch.B. 23andMe’s Head of Therapeutics</div>
We recently sat down with Kenneth Hillan, M.B., Ch.B. 23andMe’s Head of Therapeutics, to learn more about his journey, career, and vision for Therapeutics. Prior to coming to 23andMe Kenneth was CEO of Achaogen, Inc where he also served on the board of directors. Before that he spent 17 years at Genentech rising to the position of Senior Vice President and Head of Clinical Development and Product Development Strategy in Asia-Pacific for Roche in Shanghai, China. Originally from Scotland, Kenneth studied medicine and became a surgeon and pathologist before coming to the United States.
&nbsp;
<h6>Tell us about your childhood.</h6>
I grew up in a pretty traditional family, for the west of Scotland, in a town called Renfrew, near Glasgow. I went to school at Glasgow University, where I studied Medicine. Student life in Scotland was a wee-bit different from what normally happens in the States. It was a great place to learn and make lasting friendships. I’ve always enjoyed the outdoors, and as a keen hiker, I probably spent more time walking the hills of Scotland than I did studying.

<div id="attachment_27156" style="width: 235px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27156" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/IMG-2544-225x300.jpg" alt="" class="size-medium wp-image-27156" width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/06/IMG-2544-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2019/06/IMG-2544-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/06/IMG-2544-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2019/06/IMG-2544-885x1180.jpg 885w, https://blogcms.23andme.com/wp-content/uploads/2019/06/IMG-2544-scaled.jpg 1920w" sizes="auto, (max-width: 225px) 100vw, 225px" />Glasgow University, Scotland</div>
<h6>What did you want to be when you were a kid??</h6>
I always wanted to be a doctor, and it’s ultimately what I became, although that’s not exactly what I do now.
&nbsp;
<h6>What eventually brought you to the US?</h6>
While you should listen to what people tell you, you shouldn’t always do what they say.
&nbsp;
Earlier in my career, when I was thinking about coming to the States, my then boss, Roddy MacSween, said to me, “You definitely should not go to the States — you’ll be lost to British pathology.”
&nbsp;
However, getting on a British Airways flight bound for SFO on July 31, 1994 turned out to be one of the best decisions I ever made, as it opened my mind to all of the incredible possibilities created through the emerging science of biotechnology.
&nbsp;
I planned to spend just two years in a lab at Genentech, working on a newly discovered gene,<a href="https://www.ncbi.nlm.nih.gov/gene/3082"> hepatocyte growth factor</a>, that caused the liver to grow. It’s a remarkable protein, when you give it to animals, their liver doubles in size in just three days!
&nbsp;
So, I thought I was going to Genentech to figure out how to cure patients with liver failure using hepatocyte growth factor and eventually to return to the UK; neither of those two things came to pass.
After my first two years was over, Genentech made me an offer to join research as a scientist. So, I decided to stay, which meant giving up a career in medicine and not going back to the UK.
&nbsp;
<h6>What was the best career advice you received?</h6>
When I was training as a doctor in Glasgow, I wanted to be a surgeon but wasn’t really sure what kind of surgery I should pursue.
&nbsp;
So, I asked my mentor, Harry Burns, what he would do if he were in my shoes. He said, “When I was at your stage, I would have explored going someplace else to learn new surgical techniques and to travel, as you have forty years of operating ahead of you.”
&nbsp;
Harry helped me find a place, through his network, as a surgical research fellow at the Hôpital Saint Antoine in Paris, France, which was the biggest GI surgical center in Europe.
&nbsp;
I spent a year in Paris doing half clinical and half research. I had the chance to learn French and to meet many interesting surgeons and researchers from all over the world and also started to develop an interest in liver disease, liver regeneration, and liver cell transplantation. It eventually became the bridge that took me to Genentech ten years later.
&nbsp;
My advice to people is to surround yourself with people who encourage and support you to do things that are a little unconventional in areas in which you have conviction.
<h6>What surprised you about 23andMe since joining?</h6>
The most surprising thing is the amount of data we have at 23andMe and our incredible data scientists who can transform that data into actionable information.
&nbsp;
I love the fact that I can sit at my desk and ask a question in my mind, then with a click of a button, I can find out what genes might be associated with a condition or disease.
&nbsp;
When I had lunch with Richard (Scheller, 23andMe’s Chief Scientific Officer) last November, he lured me in with data, specifically around the question, ‘are you a morning person or a night owl?’ I didn’t know the answer to what made someone a morning or night person, but Richard explained to me it had to do with the PER gene that controls circadian rhythm.
The fact you can ask our customers that question, and because of the size of the 23andMe customer database, you can find the gene that controls circadian rhythm – that blew me away! It took scientists 40 years to discover the gene that controls our body clock, and they won the Nobel prize for their work. And now at 23andMe we can find it with a click of a mouse!
&nbsp;
<h6>What are you most excited about this year?</h6>
I joined because I’m excited about what 23andMe is doing. The ability to marry the consumer and research sides of the business, together with therapeutics, exists no place else on planet Earth. Leveraging our database and our knowledge of human genetics to select the best possible drug targets for a given disease is incredibly powerful.
&nbsp;
We know that using genetics as a starting point in drug discovery approximately doubles the probability of creating a successful medicine, and selecting patients based on their personal genetics improves clinical outcomes. This is all part of our secret sauce and has never before been done on the scale that we are working on at 23andMe.
We have a really strong and committed Therapeutics team and are continuing to add new people and capabilities as we advance our pipeline. 
<div id="attachment_27163" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27163" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/IMG-0216-300x183.jpg" alt="" class="wp-image-27163 size-medium" width="300" height="183" />23andMe&#8217;s Therapeutics team</div>
The database continues to grow and scale, and with the GSK collaboration we continue to make new discoveries.
It’s our ability to advance a portfolio of programs at 23andMe that is so important, as even with the best science and scientists, some programs will still falter, for reasons like toxicity or an inability to create a molecule with all of the drug-like properties needed to treat patients.
23andMe has the potential to turn the future of healthcare on its head.
&nbsp;
<h6>What is your vision for Therapeutics in the next five years?</h6>
The mission at 23andMe is all about helping people access, understand and benefit from the human genome. Therapeutics is one of the key ways we can help our customers to reach the full “benefit” from the human genome by successfully bringing targeted therapies based on human genetic data to them.
With products and patients selected based on a deep understanding of the genetic drivers of disease, we have a goal of delivering better patient outcomes and real value to the healthcare system. We are still on our way to realizing that vision and I feel extraordinarily privileged to be a part of what I know is going to be the incredible journey of getting from here to there.
&nbsp;
<h6>Final thoughts about Therapeutics</h6>
Unlike our consumer business where we improve and refine our product every year and can react and respond to marketing data on a real time basis, in Therapeutics, it&#8217;s very different, it is a longer journey.
&nbsp;
While the return on all of the work is potentially enormous, it occurs over five, six, or seven years. We need to understand that it takes time and while I wish we could move more quickly, we’re making real progress, and I’m confident it will be worthwhile.

Meet 23andMe’s Head of Therapeutics Kenneth Hillan

Since the inception of 23andMe, our mission has been to help people access, understand and benefit from the human genome. 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-252x300.jpeg" alt="" class="alignright wp-image-26375" width="280" height="334" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-252x300.jpeg 252w, https://blogcms.23andme.com/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-859x1024.jpeg 859w, https://blogcms.23andme.com/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-990x1180.jpeg 990w, https://blogcms.23andme.com/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-768x915.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-739x880.jpeg 739w" sizes="auto, (max-width: 280px) 100vw, 280px" />
We have also built a significant research team that has published over 100 scientific papers. In 2015, we launched 23andMe Therapeutics to develop novel treatments and cures based on <a href="https://www.23andme.com/dna-health-ancestry/">genetic insights</a> from the consented 23andMe community.
<h6>Novel Treatments</h6>
Today, I am thrilled to <a href="https://mediacenter.23andme.com/press-releases/gsk-and-23andme-sign-agreement-to-leverage-genetic-insights-for-the-development-of-novel-medicines/">announce</a> that we are launching a collaboration with GlaxoSmithKline (GSK) to accelerate our ability to make those novel treatments and cures a reality. <code style="display: none;"> </code>
I hear regularly from customers that they want to be part of a solution that is improving health care. We all have some disease or health issue that we care about. 23andMe has created a research platform to enable customers to actively participate in research — to not wait for solutions to appear, but for people to come together and make discoveries happen.  By working with GSK, we believe we will accelerate the development of breakthroughs. Our genetic research — powered by millions of customers who have agreed to contribute — combined with GSK’s expertise in drug discovery and development, gives us the best chance for success.
<h6>Choice</h6>
Our top priority is our customer, and empowering each individual with the options to participate in research. As always, customers choose whether or not to participate in research. Customers can choose to opt-in or opt-out at any time. 
I started 23andMe with the belief that by getting people interested in learning about themselves and participating in research, we would all benefit. Today is an important milestone in how 23andMe will be able to impact the lives of those with disease and how we will be able to improve the future of healthcare.
Finally, I want to recognize GSK for their commitment to empowering consumers to play a role in creating impactful new treatments and helping redefine how we discover novel medicines in the future.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/sig_small_transparent.jpg" alt="" class="aligncenter wp-image-23161 size-full" width="318" height="133" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/sig_small_transparent.jpg 318w, https://blogcms.23andme.com/wp-content/uploads/2015/10/sig_small_transparent-300x125.jpg 300w" sizes="auto, (max-width: 318px) 100vw, 318px" />

Therapeutics — Page 2