At the FMDSA Patient Meeting in Cleveland, Ohio, we talked with Nabila Bouatia-Naji, PhD of INSERM in Paris, France about the genetics of fibromuscular dysplasia (FMD) and some of the studies she is involved with to better understand this rare condition.
As Dr Bouatia-Naji points out, FMD is a complex genetic disease, which means the disease has both genetic and environmental factors that play a role in disease development. In that regard, FMD is similar to other common ailments like hypertension and type 2 diabetes.
Dr. Bouatia-Naji said that they have performed a small study that was recently published in PLOS comparing the genome of FMD patients to controls and they have found a variation on chromosome 6 that is more prevalent in FMD patients. More studies on the gene need to be conducted but Dr Bouatia-Naji noted that the variation involves the phosphatase and actin regulator 1 gene.