The Regeneron Genetics Center® (RGC™) is a uniquely integrated research initiative that seeks to improve patient care by using genomic approaches to speed drug discovery and development.
CIDEB & NASH
Learn more about how RGC is cracking the genetic code to combat liver disease.
One million exomes sequenced
Sequencing one million exomes and beyond to impact human health and novel drug discovery. This is just the beginning.
Doing well by doing good
At Regeneron, we are committed to the motto of “doing well by doing good.” This is reflected across our business, including in our RGC work as we seek to learn more about human genetics and share our knowledge in order to have a positive impact on human health.
UK Biobank Life Sciences Consortium
Regeneron and its life science company consortium members are serving as a model for ethical ‘pre-competitive’ collaboration that can accelerate medical discoveries and potentially improve patient care. In 2018, we welcomed collaborators AbbVie, Alnylam, AstraZeneca, Biogen, Bristol-Myers Squibb, Pfizer Inc. and Takeda into a major research consortium to fund the generation of genetic exome sequence data from the 500,000 volunteer participants who make up the UK Biobank health resource. Each collaborator is committing $10 million to enable a dramatic acceleration of sequencing timelines, with Regeneron covering the balance and conducting the sequencing effort. The sequencing data will be paired with detailed, de-identified medical and health records from the UK Biobank resource, including enhanced measures such as brain, heart and body imaging, to create an unparalleled resource for linking human genetic variations to human biology and disease. This invaluable scientific resource is being made available to the global research community through the UK Biobank’s access process.
Our unique approach and collaboration amongst industry has the potential to dramatically speed up the drug development process. Recent advances in sequencing technology and integration of rich data resources mean there are infinite discoveries to be made that could potentially impact human health. In order to fully tap this new resource, we believe cooperation, transparency and open access will be absolutely necessary, and more importantly, is the right thing to do.
Our collaborations are key to our success. We work with a large network of collaborator institutions to gather and analyze data, exchange expert perspectives and search for discoveries to transform patient care. See some examples of our collaborations below. Interested in collaborating? Contact
Achieving genomic diversity through collaboration
Genetic databases function best as global resources when they reflect humanity’s broad spectrum of ethnic, racial, and genetic diversity, so that they may benefit all populations. Essential to the creation of databases that reflect genomic diversity are global collaborations, which allow us to uncover meaningful differences, including genetic mutations found only in certain populations that may cause or protect against disease.
With over 100 global collaborations and counting, we are amassing the most diverse genomic database in the world. Join us as we harness the power of diversity and work to build bridges between the scientific community and local partners to solve health challenges large and small.
General population collaborations:
Geisinger Health System
The Geisinger Health System is one of the pre-eminent integrated health systems in the country serving nearly 3 million people in central Pennsylvania. Geisinger has long been a leader in EMR based analytics and research, being one of the first health systems to adopt electronic medical records (EMRs) in the country and a leader in clinical, genomic and epidemiological research.
In 2014, we launched a foundational initiative with Geisinger to sequence 100,000 consented participants, linking genomic data to de-identified EMR data to enable large-scale genetic discovery at an unprecedented scale. Having sequenced nearly 100,000 participants by June of 2018, the collaboration has increased its long-term goal to sequencing 250,000 participants in Geisinger’s MyCode project. In addition, we are able to return results to Geisinger, where they validate the results and share them with patients in order to inform their care.
Funded by the Wellcome Trust in partnership with the Medical Research Council (MRC), the UK Biobank is one of the world’s largest genetic resources amassing DNA samples and de-identified electronic health records for 500,000 volunteer participants. Exquisite phenotype data collected on each participant includes enhanced measures such as brain, heart and body imaging, which has created an unparalleled resource for linking human genetic variations to human biology and disease. We have partnered with the UK Biobank to whole exome sequence all 500,000 volunteers and pair that data with detailed, de-identified medical and health records. After a brief exclusivity period, this invaluable scientific resource is made publicly available to the global research community.
In early 2018, we welcomed GlaxoSmithKline, AbbVie, Alnylam, AstraZeneca, Biogen, Bristol-Myers Squibb, Pfizer Inc. and Takeda to a major pre-competitive research consortium to fund the generation of exome sequence data for all 500,000 volunteer participants who make up the UK Biobank health resource. This consortium enables a dramatic acceleration of our sequencing efforts, with the goal of enabling faster genetic discovery, target identification and validation for all.
We have various collaborations focused on deepening our understanding of specific disease phenotypes – for instance, multiple sclerosis (MS) research with the ultimate goal of enhancing patient care. Some of these MS-related programs include:
Accelerated Cures Project
The Accelerated Cures Project (ACP) is a non-profit organization dedicated to accelerating research efforts to improve diagnosis, to optimize treatment and to cure multiple sclerosis. RGC has partnered with ACP to conduct whole exome sequencing for the ACP Repository, which consists of a collection of highly characterized biosamples and data from over 3,000 subjects, with subsequent research.
The Florey Institute of Neuroscience and Mental Health on behalf of the Australia and New Zealand Multiple Sclerosis Genetics Consortium.
RGC and The Florey Institute of Neuroscience and Mental Health are collaborating to whole exome sequence and study the genetic basis of more than 3,000 onset cases of MS patients and controls to identify genes that are associated with disease susceptibility and/or sub-phenotypes.
Family-based collaboration: Columbia University
RGC and Columbia University Medical Center are studying the genetic basis of familial forms of various diseases, including inherited cardiometabolic diseases, cancer predisposition and rare diseases. Our collaboration spans exome sequencing and Mendelian disease gene discovery through functional genomics leveraging induced pluripotent stem cell technology and genetically humanized models of disease. Columbia’s principal investigators, Wendy Chung, MD, PhD, and Rudy Leibel, MD, have made seminal contributions to understanding the genetic and mechanistic basis of several inherited forms of diseases and have developed extensive resources for family-based genetics studies. So far, our collaboration has completed exome sequencing and genetic analysis of hundreds of families who have consented and enrolled in studies at Columbia University Medical Center.
University of Maryland and Amish Research Clinic
The Lancaster Old Order Amish are a founder population in whom the present-day population descended from approximately 300-400 individuals. This unique ancestral history has led to a distinct genetic architecture in which some rare disease-related genetic variants have become enriched in the present-day population through genetic drift. Thus, scientists can identify genetic variants within the Amish population using a smaller sample size than would be needed with the general population.
We are collaborating with colleagues at the University of Maryland to study a variety of complex diseases and traits including cardiovascular disease, hyperlipidemia, diabetes, osteoporosis and bone health, pulmonary function, longevity and general wellness. We are exome sequencing DNA samples from as many as 8,000 Old Order Amish research participants to discover novel genotype-phenotype associations and pharmacogenetic information. For instance, we are seeking modifier genes for cholesterol levels in subjects with Familial Defective Apolipoprotein B (R3500Q), which is more common among the Amish than in the general population. Future studies will focus on genotype-targeted recruitment and deep phenotyping to unveil mechanisms underlying disease and related traits.
Our innovative technologies enable us to quickly and effectively sequence exomes and analyze data. Through human ingenuity, machine learning, artificial intelligence and more, we maintain one of the biggest genome centers in the world.
When it comes to our data technology, our goal is to minimize friction between the data and the insights we’re trying to glean.
Automation doesn’t scale itself – that’s what we do. I help write processes that allow the robot to do what it does at a faster speed.
Research Associate III
Our approach to genetic sequencing
Our sequencing efforts are growing at a rapid pace, thanks to collaboration amongst teams to streamline the sample preparation and sequencing process.
Data analytics is an exciting area right now because there’s a big move towards ‘big data’ and ‘machine learning.’ It’s super exciting to apply these approaches to human genetics and hopefully we can make a difference for many patients.
Lukas Habegger, PhD
Associate Director, Bioinformatics
By tapping into our vast data resources, we are able to make discoveries about human
health and genetics that accelerate our drug development process.
The impact of our discoveries
At the end of the day, we’re all here to make an impact – something that can start with discoveries made at RGC.
Nonalcoholic Steatohepatitis (NASH)
Nonalcoholic steatohepatitis (NASH), a devastating form of nonalcoholic fatty liver disease (NAFLD), poses a high risk of progression to liver failure and is a common cause of liver transplant, currently with no approved therapies. Regeneron has been working hard to change that.
By sequencing over 540K exomes, RGC and collaborators identified rare mutations in the CIDEB gene, occurring in ~1/700 people. Those with one mutated copy of CIDEB have a 53% of reduction in risk for nonalcoholic liver disease and a 54% reduction in risk for nonalcoholic cirrhosis. More about this discovery
By analyzing the extensive genetic sequencing data linked with electronic health records, our RGC scientists and collaborators discovered the first genetic superpower in chronic liver disease in 2018, a mutation in the HSD17B13 gene that protects from liver disease. This discovery uncovered a potential new therapeutic target to treat NASH and stop its progression. More about this discovery
The discovery of these two genetic superpowers and ongoing research in the field have allowed for multiple shots on goal (CIDEB, HSD17B13, PNPLA3) in developing treatments for NASH. Our team has preclinical and clinical research programs with our collaborator Alnylam to tap into RNA interference technology to silence target genes to mimic their protective mutations, including an investigational treatment in clinical trials based on the protective associations for mutations in the HSD17B13 gene.
GPR75: genetics and obesity
Worldwide, at least 650 million people are classified as obese and have a body mass index (BMI) of 30 or higher. Our scientists have discovered that a rare genetic mutation (impacting ~1 in 3,000 people) in the GPR75 gene is associated with reduced risk for obesity. By analyzing the genetic sequences of nearly 650,000 people, we’ve gleaned fresh insight into the genetic roots of obesity. This discovery opens the door for potential new therapeutic targets that could help treat or prevent obesity through antibodies, small molecule inhibitors, and RNAi.Read the full announcement
GPR75 & Obesity: Behind the Science
Meet the Regeneron scientists behind the GPR75 discovery and hear how this research came to life.
We found that genetic and therapeutic inhibition of ANGPTL3 in humans and in mice was associated with decreased levels of all three major lipid fractions and decreased odds of atherosclerotic cardiovascular disease. While the ANGPTL3 research program at Regeneron dates back to the 1990s, this recent genetic validation from our RGC team has helped further our research efforts, which now includes Phase 3 clinical trials of an investigational medicine. Read the original announcement
FE Dewey. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease. N Engl J Med 2017; 377:211-221.
Our ultimate goal is to make a positive impact on patients – both in the short-term through results returned via collaborators, and in the longer-term by informing research into new medicines.
As we identify interesting findings from our research, we share it with other teams at Regeneron to accelerate our drug discovery and development process. Sometimes this data validates what we've already seen in other ongoing research, and other times it informs new avenues of research for potential therapies. Either way, our genetics research makes us more nimble and targeted when it comes to pursuing new medicines for people with serious diseases.
I’m looking forward to working with the talented scientists and well-powered data and towards the highly motivating goal of creating better treatments for patients.
Cristen Willer, PhD
Senior Director of Genomics and Health Data Mining, Translational Genetics
MyCode saved my life
Barbara Barnes is alive today because she contributed her genetic information to a research project. On her doctor's recommendation, the 58-year-old Hazleton, PA, homemaker gave a blood sample in April 2016 to a growing biobank called the MyCode Community Health Initiative. Based at Geisinger Health System in Danville, PA, its goal is to help healthcare professionals develop more targeted, effective treatments for patients. Barnes' DNA joined that of over 150,000 volunteers who are notified if genetic changes are found in their information associated with conditions that can then be treated.
Through this partnership we have been able to diagnose multiple patients with either novel mutations in known disease-causing genes, or with mutations in genes not previously associated with human disease. Ultimately, this serves our patients by providing a diagnosis, directing care and offering prenatal diagnosis for families under our care.
Hagit Baris Feldman, MD
Genetics Institute, Rambam Health Care Campus, Israel