For children with genetic orthopedic conditions there is new hope courtesy of a new agreement between Shriners Hospital for Children, headquartered in Tampa, Florida, and The Jackson Laboratory, based in Bar Harbor, Maine. The agreement is part of Shriners Hospitals for Children’s new Genomics Institute.
Shriners, Jackson Laboratory Collaborate on Genomic Studies
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Marc Lalande, Ph.D., is vice president of research programs, Shriners Hospitals for Children. Dr. Lalande told OTW, “Shriners Hospitals for Children will be working closely with the Jackson Lab to transition to whole genome sequencing and to establish data pipelines to facilitate correlations between genetic data (genotype) and the clinical manifestations (phenotype) of the orthopedic conditions that we treat.”
“Shriners Hospitals for Children and The Jackson Laboratory will build a cutting-edge database that combines the genetic and clinical information with the long-term goal of developing new therapeutic interventions. Our goal is also to identify the genetic causes of rare musculoskeletal diseases seen at Shriners Hospitals.”
“As part of this agreement, Shriners Hospitals will perform next-generation sequencing on DNA samples obtained from families at its 22 hospitals and outpatient locations in North America and from its international network of outreach clinics,” stated the news release.
Charles Lee, Ph.D., FACMG, scientific director and professor at The Jackson Laboratory for Genomic Medicine, commented to OTW, “This is a very exciting partnership and we’re thrilled to be moving forward together to help patients with these conditions. The Jackson Laboratory for Genomic Medicine has already welcomed the Shriners team for planning sessions around logistics for DNA sequencing technologies and discussions about analysis pipelines, among other important details. Shriners has such an incredible patient population, and one that they stay connected to for follow-up purposes, which is truly advantageous for our research efforts. We’re very optimistic about the potential impact of this collaboration.”
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This is a fascinating development. In my practice we've seen similar outcomes with the revised protocol. The key differentiator seems to be patient selection criteria. Has anyone else noticed the correlation with BMI thresholds?
Great point. I'd push back slightly on the conclusion, the sample size in the cited study is too small to draw population-level inferences. That said, the directional signal is compelling and worth a larger RCT.
We implemented a similar approach last year. Early results are promising but we're still gathering 12-month follow-up data. Happy to share our protocol if anyone is interested.
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