CV Lattes
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Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. Escola Paulista de Medicina (EPM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Earned a medical degree from the Federal University of Sergipe (19911997), followed by a residency in Medical Genetics (19972000) at the Clinical Hospital of the Ribeirão Preto Medical School, University of São Paulo (FMRP-USP). Completed a Masters degree (20002002) and a PhD (20022006) in Biological Sciences, with a focus on Genetics, at the Department of Genetics, FMRP-USP. In 2006, appointed as a full-time faculty member at the Federal University of São Carlos (UFSCar), where contributions included the establishment of the Department of Medicine. In 2011, completed a postdoctoral fellowship at UnIGENe, Institute for Molecular and Cell Biology, University of Porto, Portugal. In 2024, transferred to the Department of Morphology and Genetics at the Escola Paulista de Medicina, Federal University of São Paulo (UNIFESP). Academic and research activities focus on clinical and community genetics, as well as genetic counseling. Research integrates both qualitative and quantitative methods and addresses topics such as the clinical and molecular diagnosis of genetic disorders, congenital anomalies, and intellectual disabilities; genetic counseling; community genetics; and public health genetics, with emphasis on epidemiological, managerial, and educational approaches 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: In Brazil, rare diseases (RD) are defined as those affecting up to 65 people per 100,000 inhabitants. RD pose significant challenges to healthcare due to their low prevalence, delayed diagnosis, and substantial socioeconomic impacts. The national context is further marked by a lack of epidemiological data, inequities in the allocation of healthcare resources, and uneven dist…
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 …
(Only some records are available in English at this moment)
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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