Banca de QUALIFICAÇÃO: KÊMELLY KAROLLINY MOREIRA RESENDE

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
STUDENT : KÊMELLY KAROLLINY MOREIRA RESENDE
DATE: 11/08/2025
TIME: 14:30
LOCAL: LABORATÓRIO DE GENÉTICA, FACULDADE DE CIENCIAS DA SAÚDE
TITLE:

AMELOGENESIS IMPERFECTA:CLINICAL AND GENETICS ASPECTS

KEY WORDS:

Amelogenesis Imperfecta; Dental Enamel; Tooth Abnormalities; Genetic Counseling; Phenotype; Exome Sequencing; Rare Diseases.

PAGES: 100
BIG AREA: Ciências da Saúde
AREA: Odontologia
SUMMARY:

“Amelogenesis imperfecta (AI) is a rare genetic condition characterized by qualitative and/or quantitative alterations of dental enamel. It can occur in isolation or as part of a syndrome. In recent years, causative variants have been identified in several genes involved in the etiopathogenesis of AI, whether in its isolated form, syndromic form, or both. The aim of the present study was to characterize the clinical and genetic aspects of 19 families diagnosed with AI who were seen at the Rare Disease Clinic of the University Hospital of Brasília (HUB). The methodology includes the review of patient medical records, clinical examinations, exome sequencing, and longitudinal radiographic analysis of patients followed at the Rare Disease Clinic. It is expected that the results will provide a more accurate characterization of the phenotype of families with AI treated at HUB, as well as identify the underlying molecular basis, contributing to improved genetic counseling. Furthermore, a better understanding of the progression of oro-dental manifestations in patients with AI will allow for a more precise definition of prognosis, planning, and treatment, ultimately contributing to the improvement of these patients' quality of life.

COMMITTEE MEMBERS:
Presidente - 2295825 - ANA CAROLINA ACEVEDO POPPE
Interna - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Externa ao Programa - 1122542 - LILIAN MARLY DE PAULA - nullExterno ao Programa - 3117461 - ROLANDO ANDRE RIOS VILLACIS - null