NEW YORK (GenomeWeb) – The National Institutes of Health has awarded over $48.6 million in research grants over the next four years to support groups working under the Electronic Medical Records and Genomics (eMERGE) project.
The grants are administered by the National Human Genome Research Institute and represent the third phase of the eMERGE program. The funded projects focus on identifying the potential medical effects of rare genomic variants in about 100 clinically relevant genes.
The National Advisory Council for Human Genome Research cleared phase III of eMERGE last year with the goal of performing targeted sequencing of around 25,000 individuals to study health outcomes of individuals with rare variants in medically important genes.
"The newly funded projects are focused on discovering genes and gene variants with clinical implications by using the latest sequencing technologies to examine rare and common variants suspected to relate to disease risk and treatment effects," Rongling Li, program director for eMERGE in the Division of Genomic Medicine at NHGRI, said in a statement. The grants also focus on how to implement the information "into medical settings to improve patient care."
The NHGRI awarded Vanderbilt University $4,206,370 to serve as the eMERGE III coordinating center, under principal investigator Paul Harris. It also designated two centers to serve as the central sequencing and genotyping facilities: Brigham and Women's Hospital, led by Heidi Rehm, Birgit Funke, and Stacey Gabriel; and Baylor College of Medicine, led by Richard Gibbs. NHGRI awarded those institutions $8,492,617 and $8,392,000, respectively.
Nine other groups will receive grants, pending available funds:
Group Health Research Institute/ the University of Washington will receive $3,385,338. Eric Larson and Gail Jarvik will lead that group and plan to use sequencing to study preventable diseases such as inherited colorectal cancer, high triglycerides, and high neutrophil count in 2,500 individuals.
Scott Weiss, Elizabeth Karlson, and Shawn Murphy are leading a group at Brigham and Women's Hospital that will receive $3,832,097 to screen the LDLR gene in 25,000 individuals for variants that cause premature coronary artery disease to determine how physicians could best use that genetic information. They will also seek to determine whether rare and common variants elsewhere in the individuals' genomes are associated with cardiovascular, neuropsychiatric, and immune-mediated conditions described in electronic medical records.
Researchers at Vanderbilt University, led by Dan Roden and Joshua Denny, will study 100 genes in 2,500 individuals to identify rare variants associated with health and drug response. They will also expand on the PREDICT program, a pharmacogenomics pipeline. The group will receive $3,353,476.
Researchers at Cincinnati Children's Hospital Medical Center, led by John Harley, will sequence 100 genes in 2,500 patients that consent to receiving results and evaluate the genes for roles in patients' diseases. The NHGRI has awarded the group $3,421,156.
The Mayo Clinic has been awarded $3,435,970 to sequence 100 genes in 3,000 patients with moderate-to-severe hypercholesteremia or colon polyps to determine which are likely to contribute to the patients' disorder and which should be discussed further with patients, families, and physicians. The team will also study the economic and social implications of providing such information. Iftikhar Kullo and Stephen Thibodeau will lead the Mayo team.
Researchers at Geisinger Health System, led by Marc Williams and Marylyn Ritchie, have been awarded $3,517,676 to combine sequence and health information in thousands of patients' EMRs to study familial hypercholesteremia and chronic rhinosinusitis.
Chunhua Weng, George Hripcsak, and Ali Gharavi will lead a group at Columbia University studying a large multi-ethnic population. Researchers will use the $3,436,628 grant to combine sequencing data and EMR data to identify variants that contribute to an increased risk for chronic kidney disease, heart failure, breast cancer, liver disease, autoimmune disease, stroke, birth defects, and neurodevelopmental disorders.
Hakon Hakonarson at the Children's Hospital of Philadelphia will use a $3,625,184 grant to study the genetic causes of autism, intellectual disability, attention deficit hyperactivity disorder, epilepsy, and obesity. The team will study genetic data from 2,500 children and return results to around 160 patients and families.
Researchers at Northwestern University, led by Rex Chisholm and Maureen Smith, have been awarded $3,306,716 to sequence 100 genes in 2,500 patients to try and determine associations between rare variants and more common variants that have been identified from previous eMERGE studies. They plan to return results that are medically actionable.