Despite genetics made huge progress to understand inborn diseases, many efforts remain, to concretise these results into treatments. The team of Jean-Baptiste Demoulin, at the de Duve Institute, just realized great progress in this way.
Florence Arts, a young researcher in the team, financed by Télévie, first demonstrated how mutations in the so-called PDGFRB gene lead to rare but severe inborn pathologies, including skull, brain and skin deformations. In collaboration with the genomic platform directed by Miikka Vikkula at the de Duve Institute, the team demonstrated that these mutations are also involved in myofibromatosis, a serious disease that affects very young children. These researches led to identify a treatment, the imatinib, that blocks efficiently this gene in cells in culture. In collaboration with the pediatric unit directed by Dr Yoav Messingher in Children's Hospitals and Clinics of Minnesota in Chicago, a treatment was validated for the disease and successfully tested - for the first time - on a young patient with a mutation on PDGFRB. The child, who suffered a complex syndroma with skull and face abnormalies, a putative myofibromatosis as well as a very incapacitating foot and hand contracture. Treatment led to a clear improvement of his quality of life.
These results were published recently (see references below). The recent chapter of this story has just been published in Genetics in Medicine. This is a nice illustration of the motto of the de Duve Institute "To overcome disease one must first understand it".
Arts et al, « PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis » Hum Mol Genet. 2017 May 15;26(10):1801-1810.
Arts et al, « PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. » Oncogene. 2016 Jun 23;35(25):3239-48.