GENETICS TO THERAPEUTICS, DESIGNED FOR ALL
Purpose-driven genomic research
At Regeneron Genetics Center® (RGC™), we are harnessing the power of human genetics to discover important new medicines, validate existing research programs and optimize clinical trials.
We tap into our growing database of more than 2 million sequenced exomes and deidentified health information using proprietary data analytics, technology and human ingenuity to make meaningful biological discoveries at speed and scale.
Our high-touch integrated model focuses on working closely with our collaborators to build a dataset with meaningful cohorts. We use innovative technologies, such as machine learning, to sequence exomes, align with health information and perform large-scale analyses to make meaningful associations between genes and diseases. As a wholly owned subsidiary of Regeneron, we apply our insights to guide Regeneron’s broader drug discovery and development efforts.
Building a global genetic database
Genetic databases function best as global resources when they reflect humanity’s broad spectrum of ethnic, racial and genetic diversity. Essential to their creation are global collaborations, which allow us to compile a representative dataset that enables us to uncover meaningful differences, including genetic mutations found only in certain populations that may cause or protect against disease. We are committed to responsibly enhancing representation in genomic research, as reflected in our 120+ global collaborations.
Interested in collaborating with RGC?
Contact [email protected]
Historically, genomic research has over-indexed in studying people of European ancestry,1 creating gaps in our understanding of the genetic drivers of disease for other groups of people. With the ultimate goal of speeding up drug discovery and development for everyone, we are working with collaborators to enable access to more cohorts around the world to better understand the nuances of human genetics and biology while maintaining a high level of transparency and collaboration with local organizations and patients.
Mexico City Prospective Study Variant Browser
Genetic variations observed in 9,950 whole genome sequenced individuals and 141,046 exome sequenced and genotyped individuals from the Mexico City Prospective Study (MCPS). Updated as of January 2023.
1 Million Exome (ME) Variant Browser
Allele frequencies for six continental ancestries, stratified by sub-continent and region. Updated as of May 2023.
COVID-19-Related Phenotype Browser
Genetic association analysis of COVID-19 phenotypes from various studies. Updated as of March 2021.
Human genetics guiding actionable discoveries
Genomics has the potential to revolutionize how we approach drug discovery and development to find better ways to treat and prevent disease. And that is why RGC’s mission — genetics to therapeutics, designed for all — has allowed us to grow and maintain one of the world’s largest, most comprehensive genomic databases.
Guided by data and analytics, our exploration of human genetics leads us to transformative discoveries and, ultimately, the development of cutting-edge therapeutics.
Explore the impact of key discoveries:
Rare mutation in GPR75 gene associated with reduced risk for obesity
Through the genetic sequencing of nearly 650,000 people, our scientists discovered a rare genetic mutation in the GPR75 gene that is associated with reduced risk for obesity. We are pursuing therapeutic development programs using antibody, RNAi and small molecule approaches.
Missense mutation in BRCA1 gene linked to breast and ovarian cancer
By studying a founder population of Orcadians, we identified a pathogenic missense mutation in the BRCA1 gene, variant V1736A, linked to cases of breast and ovarian cancer.
Rare mutations in CIDEB and HSD17B13 genes found to combat metabolic associated steatohepatitis (MASH)
CIDEB: We identified rare mutations in the CIDEB gene and discovered that those with one mutated copy of CIDEB had a 53% lower risk for metabolic associated steatohepatitis (MASH). We are conducting preclinical research to develop a new medicine using an siRNA (gene silencing) approach.
LEARN ABOUT OUR
CIDEB DISCOVERY
HSD17B13: We discovered a mutation in the HSD17B13 gene that protects from liver disease. We are now studying a new RNAi therapeutic, ALN-HSD, targeting HSD17B13 in clinical trials.
Missense mutation in BRCA1 gene linked to breast and ovarian cancer
By studying a founder population of Orcadians, we identified a pathogenic missense mutation in the BRCA1 gene, variant V1736A, linked to cases of breast and ovarian cancer.
The team behind the science
We are trailblazers working to enhance global understanding of genetics and make actionable discoveries, ultimately helping to improve patient lives.
“Diversity in our people has been incredibly valuable. It’s diversity in people, in their cultures, where they come from and the way they’ve been trained that makes RGC a very special place to do research.”
Aris Baras, M.D.
Senior Vice President, Regeneron and
Head of Regeneron Genetics Center®
Additional Resources
ENGLISH RGC FACTSHEET SPANISH RGC FACTSHEETLearn how our team is using genomic approaches to improve patient care.
Keep up with RGC’s people, latest news and all things genetics:
Driving discoveries through collaboration
By tapping into data from our 120+ global collaborations, we make discoveries about human health that can expand scientific understanding and thereby accelerate our drug development process. We gather and analyze genetic data, resulting in one of the largest, most diverse genomic databases in the world, including the largest sequenced populations of African, Asian and Latino ancestry.
By advancing a powerful shared mission, we build bridges between the global scientific community and local collaborators who aid in the discovery process.
Explore our first 10 years of collaboration, technological advancements and genetic discovery to see how we’re harnessing the power of genetics to impact human health, now and in the future.
CHRNB2 variants linked to reduced likelihood of smoking
We uncovered a protective association between rare variants in CHRNB2 and smoking addiction.
BRCA1 missense mutation linked to breast and ovarian cancer
Together with the University of Edinburgh’s Viking Genes, we identified a pathogenic missense mutation in the BRCA1 gene, variant V1736A, in a founder population of Orcadians linked to cases of breast and ovarian cancer.
2M Exomes Sequenced
In January 2023, we reached ~2 million collaboration participant exomes sequenced, a milestone as we continue to identify genetic insights and support discoveries.
SuperAger Initiative
We are collaborating with academic, nonprofit and industry leaders to spearhead the SuperAgers Family Study — a study enrolling eligible individuals who live past age 95 with preserved cognitive capacity.
DiscoverMe South Africa Collaboration (Durban, South Africa)
As a collaborator of the DiscoverMe initiative, we are working to create a dynamic resource of demographic, health and genetic data that can be analyzed to understand clinical disease progression and improve patient care in South Africa and beyond.
Genetic associations discovered with clonal hematopoiesis of indeterminate potential (CHIP)
We studied genetic data from over 620,000 individuals and identified novel risk loci and phenotypic association with clonal hematopoiesis of indeterminate potential (CHIP), an aging-related blood condition that has been associated with an increased risk of blood cancers, cytopenias and cardiovascular disease (CVD).
Mutation in INHBE associated with protection from type 2 diabetes
Data from across five ancestries uncovered mutations in a liver-specific gene called INHBE, associated with favorable fat distribution and protection from type 2 diabetes.
CIDEB mutations linked to reduced risk of metabolic associated steatohepatitis
By sequencing over 540,000 exomes, we identified rare mutations in the CIDEB gene occurring in ~1/700 people. Those with one mutated copy of CIDEB had a 53% lower risk for metabolic associated steatohepatitis (MASH).
Hear from the team who helped uncover the CIDEB mutation:
Levels of ACE2 receptor may influence COVID-19 risk
Genome-wide analysis shows that levels of the ACE2 receptor may influence COVID-19 risk.
Watch to learn how COVID-19 risk may be reduced by a mutation in the ACE2 gene:
Mexico City Prospective Study (MCPS)/National Autonomous University of Mexico Collaboration (UNAM)
To reduce the genomic diversity gap, we joined the Mexico City Prospective Study (MCPS) research team, comprising the National Autonomous University of Mexico (UNAM) in Mexico City and the Nuffield Department of Population Health in Oxford, to conduct the most extensive sequencing study in individuals of non-European ancestry to date.
Summary data are accessible to the scientific community to facilitate future genomic research via the MCPS Variant Browser.
Mt. Sinai School of Medicine Collaboration (New York, United States)
As our largest Regeneron-supported sequencing effort to date, this research project is aimed at creating a genetics database that allows us to assess the value of genetics-based medicine.
Rare mutation in GPR75 gene associated with reduced risk for obesity
Our scientists discovered a rare genetic mutation in the GPR75 gene that is associated with reduced risk for obesity.
B4GALT1 variant linked to lower LDL cholesterol and fibrinogen levels
In collaboration with University of Maryland Medical School, we researched the Lancaster, Pennsylvania Amish community and discovered a gene variant, B4GALT1, linked to lower LDL cholesterol and fibrinogen levels.
Analysis of 454K+ UK Biobank participants
Through the exome sequencing and analysis of more than 450,000 UK Biobank participants, we identified the following:
- An association between a burden of protein-altering variants in MAP3K15 and lower levels of hemoglobin A1c, serum glucose and protection from type 2 diabetes
- The SLC9A3R gene, which has a novel risk-lowering association for hypertension
Advent Aurora Health System Collaboration (Wisconsin, United States)
We launched a large-scale initiative to sequence 267,000 consented volunteer participants in the Advent Aurora Health System, linking genomic data to de-identified electronic medical record (EMR) data to enable large-scale gene discovery.
South Asia Biobank Collaboration (London, England)
In collaboration with Imperial College London, we are investigating the underlying genetic mechanisms that support health and disease progression in volunteer participants of South Asian ancestry.
KCNQ1 missense variation associated with long QT Syndrome type 1
With the Amish Research Clinic (ARC), we identified a missense variant in the KCNQ1 gene, present in 1/45 Amish individuals. The KCNQ1 gene is associated with long QT syndrome type 1, which can lead to syncope and sudden cardiac death.
1M Exomes Sequenced by RGC
In February 2020, we sequenced our millionth exome — creating a robust and diverse database to aid in genetic discovery and serve as a resource for the scientific community.
Colorado Center for Personalized Medicine Collaboration (Colorado, United States)
We launched a large-scale initiative to sequence 150,000 consented volunteer participants in the Colorado Center for Personalized Medicine health network, linking genomic data to de-identified electronic medical record (EMR) data to enable large-scale gene discovery.
Université de Paris Collaboration (Paris, France)
In collaboration with the Université de Paris, we are investigating the underlying genetic mechanisms that support activation of the immune response in A29-positive individuals.
Rambam Health Care Campus Collaboration (Haifa, Israel)
With the Genetics Institute of Rambam Health Care Campus, we identify novel genes for rare undiagnosed disorders with Mendelian inheritance.
Mayo Clinic Biobank Collaboration (Minnesota, United States)
We launched a large-scale initiative to sequence 250,000 consented volunteer participants in the Mayo Clinic health network, linking genomic data to de-identified electronic medical record (EMR) data to enable large-scale gene discovery.
BangladEsh Longitudinal Investigation of Emerging Vascular Events (BELIEVE) Study (Cambridge, England)
In collaboration with University of Cambridge, we are investigating the burden of cardiovascular and other chronic non-communicable diseases.
Mutation in HSD17B13 protects from liver disease
We discovered the first genetic superpower in chronic liver disease, a mutation in the HSD17B13 gene that protects from liver disease.
Taichung Veterans General Hospital Collaboration (Taiwan)
In collaboration with Taichung Veterans General Hospital, we are linking genetics and longitudinal electronic medical record (EMR) data from 100,000 patients in the health system.
Protective variant in ANGPTL3 reduces risk of heart disease and diabetes
We discovered that inhibition of the ANGPTL3 gene in humans and mice is associated with decreased levels of all three major lipid fractions and protection from atherosclerotic cardiovascular disease.
UK Biobank Collaboration (Stockport, England)
We have partnered with the UK Biobank to whole-exome sequence hundreds of thousands of volunteers and pair that data with detailed, de-identified medical and health records to accelerate research goals.
Hear how our collaboration with UK BioBank helps accelerate discoveries and find determinants of disease.
Lund University Collaboration (Sweden)
Our team’s collaboration with Lund University has allowed us to better understand genetic effects of cardiometabolic diseases.
Learn about the benefits of open collaboration:
Penn Medicine Biobank Initiative
We launched a large-scale initiative to sequence 130,000 consented volunteer participants in the Penn Medicine Biobank, linking genomic data to de-identified electronic medical record (EMR) data to enable large-scale gene discovery in the Philadelphia population.
Illumina Sequencer Collaboration
In January of 2014, we announced a partnership with Illumina, that allows us to use the HiSeq 2500 System and Infinium HumanOmniExpressExome BeadChip array to analyze patient data.
Geisinger Health Systems Collaboration (Pennsylvania, United States)
As one of our first, crucial collaborations, we launched a large-scale initiative to sequence 100,000 consented participants with Geisinger in 2014, linking genomic data to deidentified electronic medical record (EMR) data to enable large-scale gene discovery at an unprecedented scale.
Amish Research Clinic and Clinic for Special Children Collaboration (Maryland, United States)
In collaboration with the University of Maryland Baltimore, we’re studying volunteer participants at the Amish Research Clinic and a variety of complex diseases and traits including cardiovascular disease, hyperlipidemia, diabetes, osteoporosis and bone health, pulmonary function, longevity, and general wellness. In addition, we’re collaborating with the Amish Clinic for Special Children to study the genetic basis of early-onset and familial forms of pediatric disorders in Amish and Mennonite populations.
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.
Data technology
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.”
Erin Brian
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
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, 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' 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