Rare Disease Report

Dr. Jason Kovacic Explains the Define-FMD Study

MAY 31, 2017
Jason Kovacic, MD, PhD

The pathophysiology of fibromuscular dysplasia (FMD) likely involves fibroblasts. In this interview during the FMDSA patient meeting in Cleveland, Ohio, we talked with Jason Kovacic, MD, PhD, about the  “Define-FMD” study which is comparing the genetic makeup of fibroblasts from FMD patients to those from non-FMD patients.
As Dr. Kovacic explains in this interview, the study is utilizing the ground breaking work done at Mt Sinai Hospital with regard to FMD as well as in biostatistical modeling to provide a better understanding of the cause and pathophysiology of FMD using modern mathematic and genetic pattern techniques.

So far, the preliminary results show there are 'hundreds of genes' that are different in FMD patients. Dr. Kovacic's team is currently recruiting more subject to the study in order to properly analyze the differences with enough statistical power to determine which genes may be related to FMD.

For more information about FMD, visit www.fmdsa.org

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