She graduated in Medicine from the Federal University of Sergipe (19911997), with a specialization in Medical Genetics (19972000) from the Clinic Hospital of the Ribeirão Preto Medical School of the University of São Paulo (FMRP-USP). She has Master (20002002) and PhD (20022006) degrees in Biological Sciences (Genetics) from the FMRP-USP Genetics Department. In 2006, she joined as a professor at the Federal University of São Carlos (UFSCar) with exclusive dedication and participation in the foundation of the UFSCar Medicine Department. In 2011, she did a post-doctoral internship at UnIGENe, Institute for Molecular and Cell Biology, University of Porto, Portugal. In 2024, she transferred to the Department of Morphology and Genetics of the Escola Paulista de Medicina, Federal University of São Paulo (UNIFESP). She works with clinical genetics, community genetics, and genetic counseling. She develops research with qualitative and/or quantitative methods on the following topics: clinical and molecular diagnosis of genetic diseases, birth defects, and intellectual disability; genetic counseling; community genetics; and public health genetics (epidemiological, management, and educational studies in medical genetics). (Source: Lattes Curriculum)
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This project aims to investigate the impact of rare genetic diseases and intellectual disability on Brazilian's family quality of life. It is a descriptive and a cross-sectional survey in which families who have children with rare genetic diseases (in the beginning, Cornelia de Lange, Williams-Beuren, Rubinstein-Taybi syndromes, and epidermolysis bullosa) and families who have children wi…
Intellectual disability (ID) is the result of intellectual functioning significantly below average, which appears before age 18 and is accompanied by limitations in adaptive functioning. From a clinical standpoint, ID is a symptom of over 2,000 different conditions, including many rare genetic diseases. In Brazil, according to the 2010 Census, 1.4% of the population has some degree of ID.…
Introduction: Genetic counseling (GC) is a communication process that aims to help individuals understand and adapt to problems associated with the occurrence or recurrence of a genetic disease in a family. With the improvement in the diagnosis and treatment of genetic diseases, there was an increase in the search for GC services. In this context, the challenges for the exercise of GC bec…
Introduction: Neurofibromatosis type 1 is a rare genetic disorder with autosomal dominant inheritance, marked by great phenotypic variability and unpredictable disease progression in a way that the affected individual's presentation can range from a few café-au-lait spots to benign and malignant neoplasms, among other comorbidities. The risk of transmission to offspring is 50%. The illnes…
Introduction: Sexually transmitted infections (STIs) are a group of conditions that, while most are non-fatal, cause a significant morbidity burden. Although they affect people of all ages, young people are especially vulnerable. Due to vulnerability factors in their individual, social, and programmatic dimensions, young college students are a particularly vulnerable subgroup within this …
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The incorporation, by Medicine, of technological advances from genomic research is frequently referred as a "quality jump", with applications in the diagnostic field, from the development of genetic tests that can detect mutations responsible for diseases or mutations that increase susceptibility for some diseases. The real benefits from technological development in medical genomic knowle…
| 5 / 2 | Completed research grants |
| 25 / 25 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 31 / 28 | All research grants and scholarships |
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CV Lattes
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