Farmington’s JAX Lab, Shriners Hospitals for Children ink research affiliation

HBJ Photo | Pablo Robles Jackson Laboratory in Farmington.

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By Joe Cooper

Farmington’s Jackson Laboratory for Genomic Medicine (JAX) research center is teaming with a national nonprofit health system to advance treatment options for children suffering from genetic orthopaedic conditions.

Mained-based JAX says it recently entered into a research affiliation with Shriners Hospitals for Children’s new Genomics Institute headquartered in Tampa, Fla.

Shriners’ Genomics Institute is focused on discovering the genetic causes of orthopaedic conditions and disabilities including clubfoot, scoliosis and osteogenesis imperfecta. The hope is that the new research initiative will lead to the identification of disease-related variations, or gene alterations, that improve ways to diagnose and treat pediatric orthopaedic diseases and other conditions, officials said Thursday.

Under the agreement, nearly two dozen hospitals and outpatient locations operated by Shriners will perform next-generation sequencing on DNA samples obtained from families and from its international network of outreach clinics.

JAX investigators, meantime, will provide expertise on genomic data analysis, specialized knowledge bases and algorithms, as well as the microbiome. It will also develop mouse models carrying the same genetic variations as patients with these rare pediatric diseases in an effort to provide insights for discovering new treatments, among other clinical information, officials said.

“This research can bring hope to countless families, and we’re looking forward to working with Shriners Hospitals to help children around the world,” said Dr. Charles Lee, a scientific director and professor at JAX.

Based in Bar Harbor, Maine, JAX is an independent biomedical research institution with more than 2,200 employees. In addition to its genomic medicine institute at UConn Health in Farmington, JAX also operates facilities in Ellsworth, Maine, Sacramento, Calif., and Shanghai, China.

Shriners Hospitals for Children, which cares for more than 100,000 patients a year, specializes in pediatric specialty care for children with orthopaedic conditions, burns, spinal cord injuries, and cleft lip and palate.