Banca de QUALIFICAÇÃO: Rosenelle Oliveira Araújo Benício

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
STUDENT : Rosenelle Oliveira Araújo Benício
DATE: 14/06/2023
TIME: 09:00
LOCAL: Link da videoconferência: https://conferenciaweb.rnp.br/events/defesa-de-doutorado-de-heidiluise-sch
TITLE:

Genotypic characterization of syndromic or familial short stature by whole exome sequencing

KEY WORDS:

Short Stature, genetic syndrome, exome, Next Generation Sequencing, osteodysplasia

PAGES: 20
BIG AREA: Ciências da Saúde
AREA: Medicina
SUMMARY:

e. Objective: Etiological evaluation of patients with short stature treated at the Clinical Genetics Outpatient Clinic of HUB, through phenotypic evaluation and complementary exams (including complete exome sequencing). Theoretical framework: Short stature is defined as a height 2 standard deviations below the mean for sex, age, and ethnic group and comprises approximately 2.3% of the population. It can be due to various causes, including numerous genetic etiologies, both syndromic and non-syndromic. Syndromic causes of short stature include various chromosomal abnormalities and monogenic disorders - hundreds of distinct syndromes, including osteodysplasias, dysmorphic syndromes, and inborn errors of metabolism. Genetic workup is essential to identify conditions that are amenable to specific treatment that could lead to an increase in adult height; to diagnose conditions that present with comorbidities that should be treated by specialists, and to enable genetic counseling. Considering the psychological and social impacts that may affect individuals with short stature, a better understanding of the factors involved can provide not only the etiological definition - which is of paramount importance for carriers of rare diseases - but even pave the way for new diagnostic and therapeutic developments. Methodology: The diagnostic yield of WES in short stature (about 33%) is similar to that identified in the investigation of other genetic etiology conditions. Classically used techniques (including karyotype) have a diagnostic yield of approximately 13%, also being important tools in the etiological investigation of short stature. The challenge for the etiological definition of syndromic short stature is the main factor involved in choosing this subject. Performing WES analysis in selected cases will allow the elucidation of pathogenic molecular mechanisms responsible for the clinical manifestations of affected patients.

BANKING MEMBERS:
Presidente - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Interna - 1707068 - ALINE PIC
Externa ao Programa - 2329402 - ANGELICA AMORIM AMATO
Externa à Instituição - Cristina Touguinha Neves Medina - SESDF