About Aliança Brasileira de Genética – ABG
The ABG’s mission is to disseminate information on various human genetic conditions for health professionals, education and to the general population, proposing actions that facilitate the patients and their families access to diagnosis, genetic counseling and treatment.
For all rare diseases, science can provide some answers. Hundreds of rare diseases can now be diagnosed through a simple biological test. Knowledge of the natural history of these diseases is optimized for creating records for some of them. Researchers are increasingly working through networks in order to share the results of their research and advancing more efficiently. They will be raised more hopes with perspectives offered by the laws through government agencies in the field of rare diseases.
Patients affected by these diseases face similar difficulties in their quest for a diagnosis, relevant information and proper guidance to qualified professionals. Specific questions are also raised on access to quality health care, social support and general medical, effective link between hospitals and health centers as well as in professional and social integration. People affected by rare diseases are more vulnerable psychological, social, economic and cultural point of view. These difficulties could be overcome by the existence of appropriate legislation. Due to lack of effective scientific and medical knowledge, many patients are not diagnosed. Their diseases remain unidentified. These people are those who have more difficulties in receiving appropriate support.