Actual position: Associate Professor of Medicine at The University of Sao Paulo (USP), School of Medicine. Internal Medicine Department - Endocrinology Division. Positions: Professor at graduation course, post-graduation adviser, physician in charge of inpatients and Principal investigator of Genetic-Endocrinology Unit. Member of International Advisory Committee (IAC) of The Endrocine Reviews (2016-2018) PRIMARY MEDICAL QUALIFICATION - 1993: Medical Degree- Faculdade de Ciências Médicas da Santa Casa de São Paulo, Sao Paulo, Brazil. POST GRADUATE QUALIFICATION - 2002: Doctorate?s Degree - Field of Medicine: Pediatric Endocrinology. Thesis: ?Molecular Study of GH receptor in children with idiopathic short stature?, at the University of Sao Paulo School of Medicine (FMUSP), Sao Paulo, Brazil. TRAINING POSITIONS: 1994-1995: Residency in Internal Medicine at the University of São Paulo School of Medicine (FMUSP), Sao Paulo, Brazil. 1995-1997: Residency in Endocrinology and Metabolism at the University of São Paulo School of Medicine (FMUSP), Sao Paulo, Brazil. 1997-2002: Fellow in Pediatric Endocrinology at the University of São Paulo School of Medicine (FMUSP) Developmental Endocrinology Unit, Sao Paulo, Brazil. 2003-2004: Postdoctoral trainee in the Growth Factor Laboratory, Department of Endocrinology at St Bartholomew?s Hospital with Cecilia Camacho-Hübner, MD). 2004-2006: Postdoctoral fellowship in Developmental Endocrinology Unit, Sao Paulo, Brazil. Mean research: ?Studies of GH and IGF-I sensitivity in children with idiopathic short stature and Noonan syndrome?. Brief biography: Dr. Alexander Jorge is a Physician and an Associated Professor in the Endocrinology Division at The University of São Paulo, School of Medicine. He is a clinical endocrinologist as well as a translational researcher. He is responsible for the treatment of children with short stature in Hospital das Clínicas de São Paulo. Dr Jorge is a co-principal investigator at Developmental Endocrinology Unit and Genetic Endocrinology Unit. His research is centered on understanding mechanisms leading to disordered growth and development. (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 |
| 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 |
| 12 / 6 | Completed scholarships in Brazil |
| 1 / 0 | Completed scholarships abroad |
| 21 / 14 | All research grants and scholarships |
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CV Lattes
ORCID