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Whole exome and genomic sequencing in the identification of new genes responsible for growth disorders

Abstract

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 of the genetic basis of growth abnormalities. In the last ten years, FMUSP's group contributed significantly to improving the knowledge in this area, mainly in identifying new genes and characterizing the phenotype of a group of conditions, including isolated short stature and syndromic forms of short stature. This project aims to identify new variants and establish genotype-phenotype correlations in growth abnormalities disorders. Whole exome sequencing of these patients/families will be performed to establish the etiologic diagnosis and identify new genetic conditions. In cases with an initial negative analysis, whole-genome sequencing will be performed. Besides the potential to identify new genetic disorders and conditions that are particular to the region of Santarem, we will provide subsidies for implementing comprehensive genetic testing, reducing the time and cost of diagnostic investigation. Additionally, we aim to disseminate and train the use of these new techniques to the research group in Pará (UEPA) in the area of growth disorders investigation, developing a network of collaboration between the proposing states and thus enabling the training of the technical team and health professionals. Another main contribution of this partnership is the sharing of knowledge produced during the project's development through the publication of articles in events and journals, contributing to the publication of theses and dissertations. (AU)

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