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Center for the Study of Genetic Skeletal Disorders Research | Overview

The Center for the Study of Genetic Skeletal Disorders, directed by Dr. Matthew L. Warman, focuses on human diseases that affect the skeletal system (i.e., bones and joints).

The center's efforts are directed toward:

  • Identifying genes that contribute to skeletal disease
  • Understanding how these genes participate in the biology of the skeletal system
  • Using this knowledge to improve skeletal health

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Researchers at Boston Children's Hospital identify a genetic cause for CLOVES, a rare but debilitating overgrowth and malformation syndrome

Discovery opens doors to targeted therapeutic development and to understanding other, similar disorders.

Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

The discovery raises the hope that, for the first time, it will be possible to develop targeted medical treatments capable of delaying, reversing or possibly preventing CLOVES's debilitating consequences. Importantly, it also demonstrates the potential of advanced DNA sequencing technologies for identifying the underlying molecular roots of malformation disorders that are genetic but not hereditary.

The team — led by Matthew Warman, MD, director of the Orthopedic Research Laboratories at Boston Children's, and Kyle Kurek, MD, of the hospital's department of Pathology, and members of the hospital's Vascular Anomalies Center — reported the discovery in the online edition of the American Journal of Human Genetics.