CV Lattes
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Universidade Federal de São Carlos (UFSCAR). Centro de Ciências Biológicas e da Saúde (CCBS) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Graduated in Medicine from the Federal University of Sergipe (1991 to 1997), with a specialization in Medical Genetics (1997 to 2000) by the Clinic Hospital of the Ribeirão Preto Medical School of the University of São Paulo (FMRP-USP). Master (2000 to 2002) and PhD (2002 to 2006) degrees in Biological Sciences (Genetics) from the FMRP-USP Genetics Department. Since 2006, she has been 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, did a post-doctoral internship at UnIGENe, Institute for Molecular and Cell Biology, University of Porto, Portugal. Currently, she is a full professor at the UFSCar Medicine Department. Works with clinical genetics, community genetics, and genetic counseling. 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; 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: 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 …
Alcohol consumption during pregnancy can cause several problems in the fetus, understood under the designation of fetal alcohol spectrum disorders (FASD) and including fetal alcohol syndrome (FAS) to abnormalities related to neurocognitive and behavioral development. Despite these negative outcomes, alcohol consumption during pregnancy is often. Therefore, the population's knowledge about…
Sickle cell disease is the most common monogenic condition in the world. The affected individuals are more susceptible to infections and hypercoagulability disorders. The pathophysiology of SARS-CoV-2 infection, on the other hand, encompasses several thrombotic and inflammatory events. The COVID-19 pandemic continues to be a worldwide public health crisis, which has been affecting million…
The behavior of SARS-CoV-2 infection is usually more severe among elderly individuals and people with comorbidities. Down syndrome (DS), a genetic non-rare condition that affects about 1 in each 800 born alive worldwide, is associated with comorbidities such as diabetes and congenital heart defects, as well as immunological disorders that make them more susceptible to respiratory infectio…
Rett syndrome (Rett syndrome, RS) is a rare genetic disease, with an estimated global incidence of 1: 15,000 live births in the female sex. Clinically, it is a neurodevelopmental disease characterized by normal development until 6 to 18 months followed by a period of developmental delay, subsequent rapid regression, a pseudo-stationary period and slow deterioration. People with RS will re…
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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…
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