Associate Professor of Endocrinology and Metabolism at the Faculty of Medicine, University of São Paulo (FMUSP), and endocrinologist and researcher at the Hospital das Clínicas, FMUSP. Head of the Genetic Endocrinology Unit (LIM25) and researcher at the Developmental Endocrinology Unit (LIM42). Active in pediatric endocrinology and genetics since 1997, responsible for outpatient clinics at the Hospital das Clínicas, FMUSP, dedicated to growth disorders and genetic diseases in pediatric endocrinology.Registered Advisor for the Endocrinology Discipline at FMUSP (CAPES rating 5). Coordinator of two mandatory courses in the undergraduate Medicine program at USP (Foundations and Clinical Bases of Endocrinology and Metabolism) and one elective course (Molecular Genetics in Clinical Practice). Member of the Coordinating Committee for the Medicine Program (CoC) at FMUSP. Member of the Board of Directors of the Integrated Center for Genetic Diseases (CIGEN) at FMUSP.Editorial Activities: Member of the editorial board of The Endocrine Review (20162018) and Archives of Endocrinology and Metabolism (AEM, 20152022). Co-editor of Arquivos Brasileiros de Endocrinologia e Metabologia (20092014). Curator of The Growth Genetic Consortium website (20142018).Research Coordination: Principal investigator of three CNPq Universal Projects (475870/2009-3, 473285/2011-8, and 459845/2014-4); four FAPESP Regular Grants (09/00313-3, 10/19809-6, 19/16092-8, and 22/10107-6); and one FAPESP Thematic Project (13/03236-5, 20142019). Currently coordinating a FAPESP Grant (2022/10107-6) and FAPESPA project to establish a research group in Santarém (PA), focusing on the use of exome and genomic sequencing to identify new genes responsible for growth disorders. Principal investigator of an international project on the genetic investigation of children with idiopathic short stature (20212025).International Engagement: Active participant in international consensus meetings, including:International Consensus Guideline on Small for Gestational Age (SGA): Etiology and Management from Infancy to Early AdulthoodDiagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International PerspectiveFirst International Consensus on Silver-Russell SyndromeDelivered numerous international lectures. Co-author of chapters on growth disorders in Sperling's Pediatric Endocrinology textbook. Maintains regular collaborations with several international research groups.Awards:2020: César Bergadá Lecture, awarded for excellence, leadership, and outstanding contributions to the field of Pediatric Endocrinology by the Latin American Society of Pediatric Endocrinology (SLEP).2015: Young Researcher Award, SBEM-SP, by the Brazilian Society of Endocrinology and Metabolism (SBEM). (Source: Lattes Curriculum)
| Articles published in Pesquisa FAPESP Magazine about the researcher: |
| Más mutaciones asociadas a la baja estatura |
| New mutations linked to short stature |
| Una inmersión en las enfermedades genéticas |
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| News published in Agência FAPESP Newsletter about the researcher |
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Several disorders that compromise human growth present a genetic basis, including the conditions that show the classical Mendelian patterns of inheritance, as well as the ones with an oligogenic-polygenic inheritance model. New molecular techniques, particularly next-generation sequencing, allowed the simultaneous analysis of several genes in only one experiment, expanding the knowledge o…
Adult height is influenced by environmental and genetic factors, with mutations in the SHOX gene being the most common known cause of monogenic short stature.Pathogenic variants in heterozygosis in this gene are identified in 80% of patients with Leri-Weill Dyschondrosteosis (LWD) and in 2% of children with phenotype compatible with idiopathic short stature (ISS).There is no relationship …
Disorders of growth and pubertal development in humans are under a strong genetic influence, including models of classic mendelian inheritance, as well as oligogenic and polygenic inheritance. New genetic tools have been recently developed, allowing simultaneous investigation of different genes and, in some cases, screening of the complete genome, in diseases with a genetic basis. The pr…
The growth hormone (GH) / insulin-like growth factor type 1 (IGF-1) system is the principal determinant and regulator of postnatal linear growth. The growth hormone insensitivity (GHI) is defined as the inability of target tissues to respond normally to GH action. IGH is mainly caused by mutations in the GH receptor gene (GHR, Laron Syndrome). In 2003, the first patient with IGH caused by…
(Only some records are available in English at this moment)
Growth disorders are a frequent complaint in pediatric and endocrinology clinical practice. Most children with height SDS < -2 are labeled as having idiopathic short stature (ISS). ISS corresponds to a healthy child with clinical and laboratory evaluation with no relevant findings that justify the growth disorder. It is known that genetic variability is the primary determinant of height. …
The word syndrome is used to define a set of medical signs, symptoms and characteristics correlated with a particular condition. Short stature is one of the main features found in many known syndromes, and when it is associated with others signs such as, facial dimorphisms, NPMD and/or intellectual disabilities, major malformations (ex: cardiac defects, CNS malformation, renal agenesis, m…
Turner syndrome is a disorder characterized by complete or partial absence of the second sexual chromosome and the most commonly found abnormalities are short stature and gonadal failure. Individual outcomes of recombinant human growth hormone (rhGH) and estrogen treatments are highly variable among patients. Retrospective studies demonstrated the influence of polymorphisms in growth horm…
(Only some records are available in English at this moment)
| 1 / 1 | Ongoing research grants |
| 7 / 7 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 12 / 6 | Completed scholarships in Brazil |
| 1 / 0 | Completed scholarships abroad |
| 22 / 15 | All research grants and scholarships |
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CV Lattes
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