Geneticists from Brazil and Switzerland have just established a new partnership to stimulate the exchange of information and facilitate the diagnosis of the many bone dysplasias. Furthermore, given that the prevalence of bone dysplasias is low, this collaboration can help physicians in Brazil to take care of their patients. The "Congenital Skeletal malformations and Osteochondrodysplasias in Brazil" (CoSMO-B) is led by Dr. Denise Cavalcanti, UNICAMP, Campinas, SP and Dr. Andrea Superti-Furga, University of Lausanne.
The first meeting organized by the CoSMO-B took place between April 25th and 27th at UNICAMP and gathered geneticists from all over Brazil interested in bone dysplasias. A major goal of the partnership is to facilitate, through the creation of a collaborative network, access to genetic tests whose implementation is still limited in our country. Thus, children affected by growth disorders such as achondroplasia or dysplasias whose causes are still unknown may have access to tests that confirm or define their diagnoses. This is important because it can help doctors to choose the best kind of care to be offered to the affected child.
Another aspect of this collaboration, which will depend mainly of Brazilian physicians, is that the initiative from the CoSMO-B can lead to the establishment of the first national registry of bone dysplasias. A registry like this can be of great importance if we think about a better understanding of the population affected and what is the actual prevalence of the many bone dysplasias in Brazil. On the other hand, knowing who and where are the people affected may, in the future, facilitate their access to innovative therapies that aim to reduce, control or correct mutations or simply improve their quality of life.
Finally, the initiative CoSMO-B wants to become a great tool for training and update of physicians interested in the topic of genetic mutations of cartilage and bone. Initiatives like this one can certainly help improve the care of many children with bone dysplasias in Brazil.