Banca de DEFESA: ANA CRISTINA VIEIRA DE MELO

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : ANA CRISTINA VIEIRA DE MELO
DATE: 23/06/2023
TIME: 09:00
LOCAL: REMOTA - https://meet.google.com/qfu-oixz-egk
TITLE:

SCREENING OF CFTR GENETIC VARIANTS IN CYSTIC FIBROSIS BY HIGH-THROUGH SEQUENCING TECHNOLOGY

KEY WORDS:

Cystic fibrosis; clinical manifestations; mutations; CFTR.

PAGES: 41
BIG AREA: Ciências da Saúde
AREA: Farmácia
SUBÁREA: Análise Toxicológica
SUMMARY:

Cystic fibrosis (CF) is a serious, multisystem genetic disease caused by mutations in the gene that encodes the cystic fibrosis conductance regulatory protein (CFTR). Although it has been described more than 2.000 CFTR mutations, in heterogeneous populations, such as the Brazilian one, molecular diagnosis is difficult by the lack of knowledge of the panel of mutations specific to the population. Thus, the present study aims to describe the clinical and molecular profiles of patients with CF at a referral center in Rio Grande do Norte, based on the genetic results obtained by high-throughput sequencing, and to correlate them with the correct diagnosis and phenotypes of these patients.

COMMITTEE MEMBERS:
Presidente - 2323511 - ADRIANA AUGUSTO DE REZENDE
Externo à Instituição - FERNANDO AUGUSTO DE LIMA MARSOM - USF
Interna - 350647 - SELMA MARIA BEZERRA JERONIMO