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.
2014
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.
2015
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.
2016
Lund University Collaboration (Sweden)
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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:
2017
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)
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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.
2018
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.
2019
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.
2020
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.
2021
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.
Hear Aris Baras, M.D. describe how RGC discovered GPR75.
Hear Manuel Ferreira, Ph.D. share how looking at data at a larger scale aided in the discovery of GPR75.
Hear Luca Lotta, M.D., Ph.D. detail how the discovery of GPR75 can reshape the way we address 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.
2022
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 nonalcoholic steatohepatitis
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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 nonalcoholic steatohepatitis (NASH).
Hear from the team who helped uncover the CIDEB mutation:
Levels of ACE2 receptor may influence COVID-19 risk
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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)
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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.
2023
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.
