Aqui está a versão em inglês do seu texto:Biomedical Scientist graduated from Universidade de Mogi das Cruzes (UMC), with a Masters in Health Sciences from Universidade Federal de São Paulo (UNIFESP) and a Ph.D. in Health Sciences from Faculdade Israelita de Ciências da Saúde Albert Einstein - Hospital Israelita Albert Einstein (FICSAE/HIAE). Solid experience in molecular biology, with a focus on rare disease diagnostics, utilizing DNA sequencing and real-time PCR techniques. Worked at Hospital Israelita Albert Einstein as part of the Genomas Raros (GRAR) project, applying NGS sequencing technologies, and contributed to the development of a mass molecular testing solution for COVID-19 during the pandemic.Since 2022, has been dedicated to the beauty and aesthetics field, coordinating the development of coworking spaces focused on sanitary regulation and technical support for professionals. Currently serves as the CEO and Principal Researcher at COMPARTIS.be, an institute for education and research that promotes safety, innovation, and excellence in beauty practices. Her work aims to integrate scientific evidence and responsible practices, leading initiatives that empower professionals and educate consumers. Engages in developing innovative solutions for the sector, including new safety protocols and educational tools, with the goal of raising professional standards and delivering ethical and reliable outcomes. (Source: Lattes Curriculum)
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Dystonia is a movement disorder of neurological order, characterized by involuntary contractions that lead to abnormal movements and / or postures that can occur in an isolated part or in the whole body. Dystonia is a complex syndrome from the etiological and clinical point of view with a lack of efficient symptomatic treatment for the majority of the cases. Besides hindering the executio…
Dopa responsive dystonia (DRD) linked to the DYT5 locus is an autosomal dominant inherited disorder caused by mutations in the GCH1 gene. It is characterized by onset during childhood, with gate disorder due to dystonia plus parkinsonian symptoms, with excellent response to levodopa. Not infrequently DRD is misdiagnosed as cerebral palsy, delaying the treatment, which can lead to importan…
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