Recipients Mayana Zatz
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Mayana Zatz Premio México de Ciencia y Tecnología 2008
She has engaged in this basic science research for more than three decades and has produced a great wealth of knowledge on the genetic alterations that cause these diseases. Among her many contributions, the identification of several of the defective genes and the molecular basis for the manner in which these defects give rise to serious muscular impairment should be mentioned. Mayana Zatz also pioneered in Brazil the introduction in the late 1980’s of molecular genetics techniques to study neuromuscular diseases. These studies contributed significantly to the knowledge of the molecular bases of the genetic alterations involved in these disorders. During the last few years, Mayana Zatz and her team have also relevantly contributed to the knowledge on the genetic alterations in other neurodegenerative, disabling, incurable diseases, such as amyotrophic lateral sclerosis and Alzheimer-type dementia. In the search for possible treatments for these diseases she has recently focused on the study of stem cells and their possible therapeutic application. The results of the research conducted by Mayana Zatz and her team have given rise to the publication of more than 220 articles in the most prestigious international scientific journals (more than 30 in the last 5 years), as well as 13 chapters in international books and more than 50 papers in Brazilian publications. This work has had enormous impact as evidenced by the fact that she has been cited more than 5000 times in the international scientific literature in her field, making her one of the most often cited Brazilian scientists of either sex. Since 1995 Zatz has been Professor of Human and Medical Genetics at the University of Sao Paulo and in 2003 she was awarded the Third World Academy of Sciences Prize in Basic Medical Sciences. Dr. Zatz has also contributed significantly in the training of young researchers. Since 1983 when her first master’s degree student graduated, she has directed 13 master’s and 18 doctoral theses and a great number of her research papers have been published in conjunction with her former students, once they became professors. The neuromuscular diseases studied by Dr. Zatz give rise to serious, and irreversible muscular alterations for which there is no treatment at present. These diseases are extremely disabling, especially for children and dramatically reduce the quality of their lives. This led her from the very beginning to establish close contact with numerous families that were carriers of the altered genes. Since it is possible to detect genetic alterations before the disease manifests itself, making it possible to predict the risk of inheriting the disease from the carrier parents, Dr. Zatz invested much of her efforts in assisting parents in this situation by means of the so called “genetic counseling”. Her concern in this area was of such magnitude that in 1981 she founded the Brazilian Muscular Dystrophy Association (ABDIM) and in 2000 the Brazilian Human Genome Research Center, linked to the Institute of Biosciences of the University of Sao Paulo, of which she is the director. The major aim of the ABDIM is to assist children who have this disease by providing them with physical therapy, psychological assistance and computer skills training. Due to her on-going participation in the genetic council, Mayana Zatz has also involved herself in the bioethical aspects of the research in genetics and the decisions relating to hereditary diseases, on the basis of the medical and genetic conditions in each case. For example: What type of advice should be given to a pregnant woman when muscular dystrophy has been detected in her siblings? What decision should be made when tests done on the fetus (in the case the mother wished and consented to such tests) show that the genetic defect has been inherited? In addition, in 2004, as representative of the Brazilian Academy of Sciences, Mayana Zatz took part in the drafting of a document in support of therapeutic cloning (which prohibited reproductive cloning), which was signed by 63 academies of sciences around the world. She also played a major role in order for the Brazilian Congress to authorize research with embryonic stem cells in 2005. This research was finally approved by the Brazilian Supreme Court in 2008. Dr. Mayana Zatz’ professional career is an example of the highest level of basic scientific productivity, and it has been accompanied by relevant and major achievements in the areas of health care and the policies regarding science in her country and Latin America. |
