What we research

Our main goal is to broaden our understanding about gene expression and regulation through the study of genetic diseases, especially those that affect neural and neuromuscular development, as well as human development and behavior. A fundamental aspect of our mission is to develop new stem cell therapies for the treatment of genetic diseases. The first step toward this goal is based on the identification of genes underlying genetic diseases and mechanisms that modulate the severity of phenotypes or clinical presentations. The identification of genes for human disorders with complex or atypical inheritance patterns is still a huge challenge. To map and identify genes that confer susceptibility to multifactorial diseases, we employ next generation sequencing and high resolution array CGH. These techniques are used for the molecular characterization of the affected population as compared to normal (control) individuals. In collaboration with other institutions (Faculdade de Saúde Pública e Instituto de Pesquisas Albert Einstein) we are developing a multicenter project about the normal ageing process, called Project 80 Plus. In this research we will analyze the genome and functional brain capacity (MRI) of a sample of more than 1,000 healthy octogenarians. This sample will also double as a “genomic bank” for the normal population. And lastly, one of the main objectives of our stem cell research is to develop potential treatments for affected patients. We are performing gene and cell therapy in different animals (mice, rats and GRMD dogs) that serve as models for neuromuscular diseases and craniofacial malformations. We will shortly expand our animal facility to also include zebrafish models.

Our main research lines and objectives are as follows:

  • To delineate genetic factors responsible for human genetic diseases, including the identification of novel genes associated with rare and common diseases, and characterization of mechanisms that modulate genotypic expression, including potential modifier genes.
  • To characterize the pathological mechanisms of genes underlying rare genetic disorders.
  • To characterize the genetic variation in the normal population of the city of São Paulo.
  • To develop therapeutic approaches for the treatment of genetic disease, including cell therapy, and use of patients’ stem cells for modeling genetic diseases and testing of different “in vitro” approaches (gene therapy and drug screening) in an attempt to contribute to future therapies for genetic disorders studied in our center.
  • To compare the clinical impact of adult stem-cells from distinct sources injected in different animal models particularly neuromuscular disorders.
  • To establish a DNA and stem cell bank from people with different genetic disorders and from the healthy population, as a control group.
  • To establish a DNA bank from healthy people over 80 years of age. We will then correlate genetic data with brain activity data, collected through MRI scans.

To establish the appropriate infrastructure for producing human stem cells from various tissues (such as adipose tissue, cord blood, tooth pulp and muscle) and induced pluripotent stem cells (iPSC) in accordance with good standard practices and the Brazilian health agency (ANVISA) guidelines.

 achieve these goals, we receive grants for the following large-scale projects:
HUG-CELL project, which is a RIDCs (Research, Innovation and Dissemination Centers) from FAPESP (Director: Mayana Zatz)

INCT project: Stem cells in genetic diseases (CNPq/FAPESP; Director:: Mayana Zatz)
CTC project: Cell Therapy in genetic diseases: neuromuscular, craniofacial and neurological (FINEP; Director: Maria Rita Passos-Bueno)