ONE OF THE WORLD'S
LARGEST HUMAN DNA
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.
One of the world’s largest human genomic research efforts
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 RGCcollaborations@regeneron.com
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 electronic medical record- (EMR) based analytics and research, being one of the first health systems to adopt 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 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. This invaluable scientific resource is being made available to the global research community through the UK Biobank’s access process.
In early 2018, we welcomed 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 and target identification and validation for all.
Phenotype Collaborations: Multiple Sclerosis Programs
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 MS. The 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 MS Genetics Consortium
The 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.
Phenotype Collaborations: Inherited Disease Programs
The 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.
Founder Populations: 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.
TECHNOLOGIES AND INNOVATION
Our innovative technologies enable us to quickly and effectively sequence DNA samples and analyze data. Through human ingenuity, machine learning, artificial intelligence and more, we maintain one of the biggest genome centers in the world.
“Automation doesn’t scale itself – that’s what we do. We help write processes that allow the robot to do what it does at a faster speed.”Erin Brian
Research Associate III
“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
Our approach to
By tapping into our vast data resource, 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 the RGC.
NONALCOHOLIC STEATOHEPATITIS (NASH)
Our RGC scientists were the first to identify a variant in the HSD17B13 gene that is associated with reduced risk of, or protection from, various chronic liver diseases for which there are currently no approved therapeutics. By analyzing extensive genetic sequencing data linked with EHRs, we discovered a potential new therapeutic target to reduce the risk of chronic liver disease and progression to more advanced stages of disease, such as NASH. Based on these findings, we are collaborating with Alnylam to discover potential RNAi therapies for this target.
We found that genetic and therapeutic inhibition of ANGPTL3 in humans and of ANGPTL3 in mice was associated with decreased levels of all 3 major lipid fractions and decreased odds of atherosclerotic cardiovascular disease. While the ANGPTL3 research program at Regeneron dates back to the 1990’s, this recent genetic validation from our RGC team has helped further our research efforts, which now include Phase 3 clinical trials of an investigational medicine.
Our ultimate goal is to make a positive impact on patients, both in the short-term through results validated and 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.
Moving In The Right Direction
Each and every day, our Regeneron team is working to revolutionize drug discovery and development.
“We really want to see how our research is impacting patients. The fact that we’ve made a difference in patients’ lives, that’s amazing.”Nehal Gosalia, PhD
Associate Manager, Founder &
Special Populations 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, Pennsylvania 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, Pennsylvania, its goal is to help health care professionals develop more targeted, effective treatments for patients. Barnes's 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.
“It makes me feel excited and proud to know that if we spend a long time trying to figure out something, it could help someone who right now doesn’t have any hope.”Julie Horowitz
Associate Manager, Immune Diseases
The Hospital for Sick Children
Dr. Aleixo Muise and the Hospital for Sick Children (SickKids) have established one of the leading inflammatory bowel disease (IBD) clinical and research centers in the world and have led the interNational Early Onset Paediatric IBD Cohort Study (NEOPICS), a SickKids' based initiative that brings together international pediatric gastroenterologists and scientists from around the world. We are collaborating with SickKids to study the genetic determinants of infantile and pediatric onset cases of IBD through exome sequencing and analysis of thousands of families seen at SickKids and other institutions.
For Aleixo Muise, MD, PhD, Co-Director of the Inflammatory Bowel Disease Centre at Toronto SickKids, genetic research is personal. His team has collaborated with us since 2014 and in that time we have sequenced more than 1,500 young patients. Early research into this young patient population points to small percentage having a single gene mutation that causes the disease. When the child has this mutation, they are generally cured of IBD through a bone marrow transplant, thus making genetic sequencing incredibly valuable to these young patients. We are proud to be able to help inform patient care through our genetic sequencing efforts.
“Through this partnership we have been able to validate RGC results, which has led to the diagnosis of 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
Sequencing one million exomes and beyond to impact human health and novel drug discovery. This is just the beginning.
A Million is just the beginning
The Regeneron Genetics Center (RGC) is accelerating drug discovery
Want to get the whole picture and see how change is taking place?
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 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.