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Investigating genetic disorder

Center for Studies of the Human Genome is to research genetic illnesses and increase family support programs

The Center for Studies of the Human Genome originated from the experience of a group of research workers at the Institute of Bio-sciences of the University of São Paulo (USP) which has dedicated the last 30 years to the study of genetic diseases and family counseling. In spite of the lack of modern technology, for thirty years, the group has won international respect in the detection of chromosome alterations involved with the Down syndrome and biochemical changes in the Duchenne dystrophy. This outstanding position in the scientific community was reinforced in the 80s, when already counting on the support of molecular biology, the group developed genotype-phenotype correlation studies, widening the certainty of diagnosis of many diseases and strengthened support services to the population at large. “We have always integrated research with genetic counseling”, points out Mayana Zatz, the Center’s director.

With the support of FAPESP, the Center for the Studies of the Human Genome will widen the scope of its research on genetic disorder, by using mapping methods, cloning and also identification of proteins responsible for disease. The Center will also upgrade the monitoring of families by identifying risk situations, genetic counseling and prenatal diagnosis. “In the same family people with the same pathogenic mutation in a gene, which alters the protein, may have completely different clinical conditions. This is due to modifying genes which need to be identified”, exemplifies the Center’s director.

The Center’s researcher will further carry out research along human anthropology lines aimed at learning about the variation in genetic base in the different ethnic groups that make up the Brazilian population. The studies range from comparative genetics, already carried out on a small scale at the Bio-Science Institute, to evolution analysis, such as the identification of similarities among human and animal genes, explains Mayana Zatz.

The Center for Human Genome Studies is located in a recently inaugurated building built with federal Pronex (Support Program for Excellence Nuclei) funding and includes research laboratories and consulting rooms linked to an auditorium where courses at various levels are held. These courses are administered to medical science students, doctors, health workers, teachers and high school students as well as specialized journalists.

The program for the propagation of human genetic research also includes the production of videos and software as well as a newspaper containing scientific information and a summary of the educational activities promoted by the Center.

The international selection panel considered the action plan as “ambitious”, but important for the development of genetic research in Brazil. The program for education and propagation of research findings was considered one of the project’s main challenges. “The propagation plan is important, it may work and is perfectly in tune with basic research”, said one of the specialists.