Mayana Zatz

Mayana Zatz

Dr. Zatz is a professor of Human and Medical Genetics and is currently the director of the Human Genome Research Center and Institute of stem-cells in genetic disorders, at the University of São Paulo (USP). She is a member of the Brazilian Academy of Sciences and Third World Academy of Sciences (TWAS) and president of the Brazilian Muscular Dystrophy Association. Her research in human and medical genetics focuses mainly on the following aspects of neuromuscular disorders: identification, genotype-phenotype correlations, mechanisms of clinical variability and stem-cell therapeutic applications. She has been awarded several prizes: L´Oreal/Unesco for women in Science; as the best Latin American researcher in 2001; TWAS for research in medical sciences, 2004 and the Mexican Prize of Sciences and Technology (2008). From 2008 to 2012 she wrote more than 250 articles as a columnist for the magazine VEJA interpreting and discussing scientific news and ethical issues for lay people. She published more than 300 peer-reviewed articles that were cited almost 8000 times (H=41, Web of Knowledge, Web of Science, H=40, November 2013). She is the author of the book GenÉTICA ( GeneEthics). She has been actively involved in ethical aspects related to genome research, genetic testing and political decisions regarding the approval of the Brazilian embryonic stem-cell bill in 2005 and 2008.


Research profile
My research group, which has currently 8 graduate students, 3 pos-doc and 2 undergraduate students is currently focusing on neuromuscular disorders (NMD), stem-cells and aging with the following aims:

a) To enhance our understanding on the mechanisms responsible for NMD. To attain this first aim we are trying to identify new genes by next generation mutation analysis and we are also comparing patients carrying the same mutation who have discordant phenotypes, particularly asymptomatic patients. Understanding the mechanisms that protect some individuals (also animal models) from the deleterious effects of a pathogenic mutation may open new avenues of research with therapeutic implications. In addition we are deriving stem cells lineages from families with affected patients for modeling these NMD in particular amyotrophic lateral sclerosis. These lineages will allow us to investigate the gene expression in various cell lines as well as novel drugs screening.

b) To contribute to the knowledge of healthy aging in the Brazilian population as well as looking for the genetics of handedness. To achieve this goal we are collecting DNA samples from a large cohort of healthy individuals older than 80 who will also be submitted to MRI. This cohort will be compared to another cohort of subjects older than 60 that have been followed since 2000.c) Compare the clinical impact of stem-cells from different sources in animal models with different neuromuscular disorders.


This research is underway. We are evaluating the clinical effect of human adult stromal mesenchymal stem cells and pericyte derived stem-cells from distinct sources transplanted in animal models with different neuromuscular disorders including ALS.


Diagnostic and counseling activities
Mayana Zatz has been heavily involved in Genetic Counseling of families with neuromuscular disorders since the late seventies. She has attended approximately 25.000 individuals belonging to familes with affected patients and is President and Founder of the Brazilian Muscular Dystrophy Association.


Ten Favorite Publications
Selected from 333 peer-reviewed papers (November 2013) cited almost 8000 times. H index= 40 (web of Sciences).

  1. Nigro V, Moreira ES, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR& Zatz M (1996). The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD2F) is caused by a mutation in the delta-sarcoglycan gene. Nat. Genet. 14:195-196.
  2. Nishimura Al, Mitne-Neto M, Silva HCA, Richieri-Costa ,Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater P, Webb J, Skehel P and Zatz M (2004). A mutation in the vesicle trafficking protein VAP-B causes late onset spinal muscular atrophy and amyotrophic lateral sclerosis . Am.J.Human.Genetics .5:822-832
  3. Zatz M (2005). When science is not enough: fighting genetic diseases in Brazil. Science 307:55-58.
  4. Zatz M, Starling A (2005). Calpain and human diseases. New Engl.J of Medicine: 23(352) 45-55.
  5. Secco M, Zucconi E, Vieira NM, Fogaça LLQ, Cerqueira A, Carvalho MDF, Jazedje T, Okamoto OK , Muotri AR, Zatz M : Multipotent stem cells from umbilical cord: cord is richer than blood! Stem Cells. 2008 Jan;26(1):146-50.
  6. Vieira NM, Zucconi E, Brandalise V, Jazedje T, Nunes VA, Strauss BE, Vainzof M, Zatz M (2007). Human multipotent adipose derived stem cells restore dystrophin expression of Duchenne skeletal muscle cells in vitro . Biol Cell. 2008 Apr;100(4):231-41.
  7. Vieira NM, Bueno Junior CR, Brandalise V, Zucconi E, Secco M, Carvalho MD, Suzuki MF, Bartolini P, Brum PC, Vainzof M, Zatz M (2008). /Sjl/ dystrophic mice express large amount of human muscle proteins following systemic delivery of human adipose-derived stem cells without immunosupression. Stem Cells 2008. Sep 26(9):2391-8.
  8. Jazedje T, Perin PM, Czeresnia CE, Maluf M, Halpern S, Secco M, Vieira NM, Zucconi E, Zatz M (2009). Human Fallopian Tube: A New Source of multipotent Adult Mesenchymal Stem Cells discarded in surgical procedures . J Transl Med. 2009 Jun 18;7(1):46.
  9. Mitne-Neto M, Machado-Costa M, Marchetto MCN, Bengtson MH, Joazeiro CA, Tsuda H , Bellen HJ, Silva HAC , Oliveira ASB , Lazar M , Muotri AR & Zatz M. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem-cells of ALS8 patients .Human Molecular Genetics . 2011 (18): 3642-52.
  10. Vieira NM,Valadares M, Zucconi E, Secco M, Bueno Junior CR, Brandalise V, Assoni A, Gomes J, Landini V, Andrade T, Lima BL, Caetano HVA, Vainzof M, Zatz M. Human Adipose-Derived Stromal cells injected systemically into GRMD dogs are able to reach the host muscle and express human dystrophin. Cell Transplant. 2012;21(7):1407-17.