The professors are involved in the research of Fibrodysplasia Ossificante Progressiva (FOP)
The professors Almir de Sousa Martins, Durval Batista Palhares, are involved in the research of Fibrodysplasia Ossificante Progressiva (FOP). The professor Almir belongs to the Universidade Federal de Minas Gerais and Professor Durval to the Universidade Federal de Mato Grosso do Sul. In addition to these two professors, the geneticist Liane Rosso Giuliani and the pharmaceutical and molecular biologist, Paula Cristhina Niz Xavier, are also part of the group. Currently, they are working in partnership with Walsh University (Ohio-USA), where PhD student Deborah Ribeiro Nascimento, who was at this University, when she was able to clone the defective gene receptor, ACVR1, which will open new perspectives in the Study of FOP.
Deborah is in the final phaseofher PhD andisdevelopingthethesisentitledEvaluationof β-receptor gene expression in leukocytesofpatientswithProgressive Ossificans Fibrodysplasia. Another PhD student, Marilene Garcia Palhares, isdevelopingthethesisEvaluationofthe gene expressionof β 2 -adrenergic receptor in leukocytesofpatientswithProgressiveOssificante Fibrodysplasia. Currently, we are with 33patientsfromdifferentregionsofBrazil. In thisyearof 2017, participating in thegroup, anotherpostgraduatestudent, masterlevelwasincludedandHernameis Suzana Lopes Bomfim Balaniuc, whosemaster’sprojectisentitled Expression of pro andanti-fibrotic genes in mononuclear cellsofpatientswithprogressiveossifying fibrodysplasia..Nine yearsagowecreatedthe IAPES,(Instituto de Assistência e Pesquisas em Educação e Saúde), whichisanOscip, whichaimstoraisefunds for FOP surveys.
- About Progressive Ossificans Fibrodysplasia:
Fibrodysplasia ossificans progressiva is a rare genetic connective tissue disorder characterized by malformations of the hallux and progressive ectopic ossification in skeletal muscles and soft tissues. It is an autosomal dominant disease and its worldwide prevalence is 1 case for 2,000,000 births . The FOP gene which is thought to cause essential activation of ACVR1, also known as activing-like kinase 2 [ALK-2]), was discovered in 2006 , in patients who had mutations in the ACVR1 gene. ACVR1 encodes activin receptor type-1, a type of BMP receptor that activates the BMP signaling pathway [2,3] and is consequently liable for the disease.
FOP is a complex disease and many paths exist in your study and this is what the group of researchers and postgraduates are studying. FOPCON is medication that has helped patients not only minimize pain, better sleep, as well as control the disease. We have patients under control with FOPCON for 5 years and 4 months. We are studying how medication controls the flare-ups of the disease. The first results will be published with the results of Post-Graduation Déborah Nascimento.