Genetic pathways

Genetic research conducted in Brazil and in the United States to discover treatment alternatives for diseases like cancer, hemophilia and muscular dystrophy is highlighted during FAPESP Week

The results of advanced research into cancer, stem-cells and genetic diseases were presented October 26, the final day of FAPESP Week at the Woodrow Wilson International Center for Scholars in Washington, DC to an audience of scientists from the United States and Brazil. 

Mayana Zatz, Professor in the Genetics and Evolution Biology Department of the Biosciences Institute at the Universidade de São Paulo and Coordinator of the Human Genome Research Center, a FAPESP Research, Innovation and Dissemination Center (RIDC), spoke about the stem-cell research conducted by the group she coordinates.

She noted, "We study stem-cells in order to use them in cell therapy, especially in neuromuscular and craniofacial disorders, as a tool to enhance our understanding of gene expression in genetic disorders.”

The studies include a comparison of the potential of adult mesenchymal stromal cells from different sources to differentiate in vitro and in vivo in different animal models. The experiments for therapeutic purposes are designed to repair bone, treat neuromuscular disorders and muscular dystrophy, in addition to establishing a stem-cell bank from patients with different genetic disorders.

The talk by Ricardo Renzo Brentani, President of the Board of Directors of FAPESP and President of the A.C. Camargo Hospital, was on the use of genomics and molecular genetics in developing treatment alternatives for cancer.  

Brentani began by describing the work done at the A.C. Camargo Hospital, the largest cancer hospital in Brazil, which handles over 16,000 new cases of the disease each year, and performs nearly 11,000 surgeries.  The hospital, which is a FAPESP-RIDC and a National Institute of Science and Technology (INCT), is responsible for nearly 60% of the scientific production in oncology published in Brazil. 

"A decade ago, A.C. Camargo Hospital took part in the Human Genome Cancer Project, funded by FAPESP and the Ludwig Institute.  Tumor samples from 30 laboratories were collected at the hospital and then dissected by our pathologists.  The results were the world’s second largest contribution to the human transcriptome.”  

Fernando Ferreira Costa, Professor at the School of Medical Sciences and Dean of the Universidade Estadual de Campinas (Unicamp) spoke about the potential targets for developing drugs to treat genetic blood disorder such as sickle-cell anemia (malformation of red blood cells).

The group led by Costa investigates the use of hydroxyurea therapy in addition to stimulating fetal hemoglobin production in the treatment of these blood diseases.  According to him, hydroxyurea therapy together with stimulation of fetal hemoglobin production and the reduction of hemolysis -the destruction of red cells by breaking the plasma membrane and releasing the hemoglobin – led to an improvement in the coagulation process.   

Valder Arruda spoke about studies conducted by the group he leads at the University of Pennsylvania for developing gene therapy to treat inherited diseases like hemophilia, a blood clotting problem.  According to Arruda the results obtained by using gene therapy on dogs with blood diseases has been extremely promising.

Arruda went on to say, "I take this opportunity to congratulate FAPESP on its FAPESP Week initiative and thank the Foundation for the support I received in my studies."

When the scientist was at Unicamp, he was supported by the Foundation through its Program of Young Researchers in Emerging Centers and was one of the main researchers on the Thematic Project "Molecular genetic of the hereditary alterations of hemoglobin and functional study of gamma globin genes," coordinated by Ferreira Costa.