Mayana Zatz is Professor of Human and Medical Genetics. Director of the Human Genome Research Center (Hug-cell) and Nacional Program (INCT): aging and genetics: genomics and metagenomics, at the University of São Paulo ( USP). Graduaded in Biology, USP (1968), Ph.D. in Human and Medical Genetics at USP (1974), and post-doc in medical genetics (1975-1977) at University of California, USA. She is Member of the Brazilian Academy of Sciences and Academy of Sciences for the developing world (TWAS). Was founder and president of the Brazilian Muscular Dystrophy Association (ABDIM) from 1981-2013. Her research in human and medical genetics, are focused mainly in stem-cells (as a tool to understand gene functioning and cell therapy) , aging and neuromuscular disorders focusing the following aspects: gene identification, genotype-phenotype correlations , and mechanisms underlying clinical variability. She is also investigating the use of zika virus against brain cancer. She has published 472 peer-reviewed papers , January 2026 ), which were cited ~ 16358 times ( Web ofScience ; H index = 60 ;Publon); H=82(Google Scholar, 35013 citations ), Scopus: H=70, 23951 citations . She has been the mentor of undergraduate and graduate students who presented 53 thesis. Was awarded several international prizes such as: L 'Oreal 's / UNESCO for Women in Science-as the best Latin American researcher in 2001 - TWAS for Research in Medical Sciences in 2004, Mexican Prize of Science and Technology in 2008 and Gaetano Conte in 2011. She was columnist of the weekly magazine VEJA having written more than 250 articles for lay people. She is currently columnist of @radiouspsp , where she discusses new scientific advances twice a month. She is the author of two books Gen ÉTICA and O LEGADO DOS GENES From 2010 to 2012 she was part of the board of revisors (BORE) of scientific journal Science. She has been actively Involved in ethical aspects related to genome research, genetic testing and scientific political decisions regarding the approval of the embryonic stem -cells bill in 2005 and 2008. Currently she is also investigating the genetic variability associated to COVID-19 clinical variability, zika virus against brain tumors and genetic variants of resilience in healthy centenarians and in Duchenne muscular dystrophy.(project FAPESP-temático)) (Source: Lattes Curriculum)
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The genetically modified Zika virus (oZIKV) represents an innovative oncolytic virotherapy platform based on rational genetic modifications that confer tumor selectivity and an improved safety profile, as demonstrated in previous experimental studies using relevant models of central nervous system (CNS) tumors (KAID et al., 2018; NOVAES et al., 2024). While the scientific maturity of the …
The global population is aging, and understanding the mechanisms responsible for healthy longevity is of great scientific interest. Recent findings have shown that the so-called Blue Zones-regions of the world with the highest longevity-lack reliable data, reinforcing the need to investigate factors that promote healthy aging in genetically diverse populations, such as the Brazilian popul…
The Human Genome Research Center (HGRC-CEPID I) was initiated in 2000 with the main goal of increasing our basic knowledge and diagnosis of prevalent genetic diseases in the Brazilian population. The HGRC concentrated largely on Mendelian disorders, mainly neuromuscular, craniofacial, and mental disability. The scope was expanded in 2005 by incorporating stem-cel…
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Successful response to the COVID-19 pandemic caused by the new coronavirus (SARS-CoV-2) has been observed in countries equipped with resources that enable mass testing of the population, such as South Korea (Normile, 2020). With increasing international demand for laboratory supplies, countries such as Germany, Singapore and South Korea have been redirecting their industrial capacity to p…
Motivated by the growing need for transplantation-available organs and the latest developments in genomic editing technologies such as the CRISPR-Cas9 system, significant progress in the efficiency and safety of xenotransplantation techniques has been achieved in the last two years. Genetically engineered pigs developed to prevent receptor hyperacute immune rejection have been successfull…
Healthy aging and longevity are a growing topic of interest. They depend on the complex interplay between nuclear and mitochondrial DNA, the environment and the microbiota, that is, the whole set of bacteria living in the different parts of our body with their whole set of genes. Understanding this complex nature versus nurture balance is one of the greatest challenges in human genetics a…
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Neurofibromatosis type 1 (NF1) is a genetic syndrome characterized by the development of peripheral nervous system (PNS) tumors resulting from loss-of-function of the tumor suppressor gene NF1, and marked by high molecular and phenotypic heterogeneity among patients. Recent evidence indicates that Zika virus (ZIKV) exhibits oncolytic properties in different types of central nervous system…
Tecidos contráteis, como os músculos cardíacos e esqueléticos derivados de células-tronco pluripotentes induzidas (iPSCs), têm grande potencial para melhorar o poder preditivo de estudos humanos in vitro, e a avaliação direta da força contrátil e da cinética muscular podem ser métricas quantitativas interessantes para estudar a função geral do tecido. Contudo, limitações no rendimento ass…
Duchenne Muscular Dystrophy is an X-linked genetic disease caused by mutations in dystrophin, leading to progressive muscle degeneration. Jagged-1, linked to the Notch pathway, may attenuate the phenotype. This study evaluates whether its overexpression, combined with mesenchymal stem cells, improves muscle regeneration in a murine D2.mdx model. (AU)
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A COVID-19 foi a terceira maior causa de mortalidade no mundo em 2020 e a segunda em 2021. Quase 13 milhões de vidas foram perdidas durante esse período devido à infecção pelo vírus SARS-CoV-2. A edição de 2024 das Estatísticas de Saúde Mundial, divulgada pela Organização Mundial da Saúde (OMS), revela que a pandemia da COVID-19 eliminou quase uma década de progresso na melhoria da expect…
O envelhecimento afeta múltiplos sistemas no organismo, resultando em uma série de mudanças complexas e interconectadas. Sistemicamente, a capacidade de regeneração tecidual diminui, a homeostase metabólica é prejudicada e funções essenciais, como a regulação do cálcio e a atividade mitocondrial, se deterioram. Esses fatores, quando somados, criam um ciclo de fragilidade crescente. Apesar…
Um dos grandes desafios da Ciência contemporânea é compreender os diferentes mecanismos biológicos por de trás do processo de envelhecimento saudável. No entanto, o código genético daqueles que conseguiram chegar a um século de vida, ativos, apesar da idade avançada, é uma ferramenta promissora para investigar os fatores e variáveis genéticas envolvidas com a longevidade saudável. Nesse s…
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the brain's most common monogenic small vessel disease, caused by mutations in the NOTCH3 gene. These mutations result in the accumulation of misfolded NOTCH3 extracellular domain (ECD) and the formation of granular osmiophilic material (GOM) in cerebral vessels, leading to vascular smo…
Liver failure represents a global health crisis, with limited treatment options due to the shortage of donor organs. Alternatives like hepatocyte transplantation and bioartificial livers depend on functional, expandable hepatocytes, but existing cell models fail to preserve liver-specific functions in vitro. Human induced pluripotent stem cells (hiPSCs) can be differentiated into hepatocy…
Duchenne Muscular Dystrophy (DMD) represents a severe and progressive neuromuscular condition, originating from mutations in the DMD gene. These mutations lead to the absence or malfunction of dystrophin, a crucial protein for maintaining the structure of muscle fibers. The deficiency of this protein results in continuous muscle degeneration and strength loss. Although there have been not…
Zika Virus (ZIKV), a mosquito-borne flavivirus, has attracted attention due to its impact on the central nervous system (CNS), causing severe brain anomalies during human embryonic development, known as Congenital Zika Syndrome (CZS). This BEPE proposal aims to unravel the intricate dynamics of ZIKV infection susceptibility and transcriptional expression in neural cells at different matur…
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