RESEARCH LINES

The research lines of the program’s professors are: (1) human cytogenomics; (2) evolutionary and human population genetics; (3) Identification of genes and mutations related to heterogeneous genetic diseases; (4) Cancer Genetics; (5) Ethics, psychology and profession issues applied to genetic counseling; 

Human Cytogenomics

Human cytogenomics studies the human chromosomes and phenotypic alterations produced on human beings by chromosomal changes. The line includes research about identification of chromosomal changes, about molecular details of these changes, about the development and implementation of novel techniques of chromosomal and genomic analyses, emphasizing the correlation between alterations and phenotypes.  

-Ana Cristina Victorino Krepischi

- Carla Rosenberg

- Angela Maria Vianna Morgante

- Celia Priszkulnik Koiffmann

Evolutionary and Human Population Genetics

Deal with studies on allele frequencies, aiming at making estimates of admixture in populations, identifying signatures of natural selection, conducting studies of mapping genetic diseases with complex mechanisms and developing quantitative methods for calculation of genetic risks in genetic counselling in heterogeneous and complex diseases.

- Diogo Meyer

 - Michel Satya Naslavsky

- Regina Célia Mingroni Netto

Identification of genes and mutations related to heterogeneous genetic diseases. 

Deals with studies aiming mapping and identification of novel disease related genes, and novel molecular mechanisms leading to human genetic diseases, and finding of correlations between types of mutations and phenotypes. This line of research also includes functional studies in animal models, cell cultures including different types of stem cells, aiming to clarify the role of genes and mutations in the development of genetic diseases and in their treatment 

- Ana Cristina Victorino Krepischi

- Debora Romeo Bertola

- Fernando Kok

- Maria Rita Dos Santos Passos Bueno

- Mariz Vainzof

- Mayana Zatz

- Regina Célia Mingroni Netto

Cancer Genetics

Includes studies of gene expression in several types of tumor cells aiming to identify molecular mechanisms related to the origin, progression and increased susceptibility to cancer in humans. It also comprises cytogenomic studies in tumor cells and tissues, as well as mechanisms related to pluripotency of stem cells and potential correlations to the development of cancer and its treatment. 

-Ana Cristina Victorino Krepischi

- Oswaldo Keith Okamoto

Ethics, psychology and profession issues applied to genetic counselling 

Aims to question and reflect on the ethical/psychological aspects and repercussions involved in genetic counseling. It also includes issues related to elements that influence the effectiveness of the process and its social and ethic consequences to society. 

-Regina Célia Mingroni Netto 

- Michel Satya Naslavsky