News : 2011 : May

3rd Annual International Thrombotic Storm Collaborator Meeting

On May 23, 2011, Drs. Jeffery Vance and Margaret Pericak-Vance hosted the 3rd Annual International Thrombotic Storm Collaborator Meeting at the Hilton Bentley on Miami Beach.

Investigators came from the United States and Canada to evaluate new cases, review data, and strategize. What is particularly unique about this group of researchers is that while they all have an interest and expertise in thrombotic storm, they come from diverse medical specialties. This enables a comprehensive approach to the disorder which can present in the neurology, hematology, rheumatology or pediatric setting.

The purpose of the thrombotic storm study is to refine the extreme clinical phenotype definition of thrombotic storm and identify potential gene mutations that place these individuals at risk, so prevention and treatment strategies can be developed and applied. In addition, identifying new genes involved in the thrombotic process will provide new insights into thrombotic disease in general.

Research is critical because, as in the case of JJ, the Vance’s son, the condition is often lethal if not detected and treated quickly. Ultimately, they hope to find a cause, which will lead to earlier detection and better treatment. They also hope the conference will bring attention to the syndrome, which researchers believe is often under diagnosed or misdiagnosed. Momentum is gaining in increasing awareness of the disorder. Seven new families who have this extremely rare condition have already been identified and enrolled since this January.