Banca de QUALIFICAÇÃO: ANA CAROLINE GABRIEL GONCALVES

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
STUDENT : ANA CAROLINE GABRIEL GONCALVES
DATE: 19/03/2025
TIME: 14:30
LOCAL: Laboratório de Genética Clinica - FM
TITLE:

Use of next generation sequencing for molecular diagnosis in families with intellectual disability.

KEY WORDS:

Whole exome sequencing; glycomics; methylation; intellectual disability

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

“Intellectual disability (ID) is a neurodevelopmental disorder affecting about 2 to 3% of the global population. ID is associated with cognitive impairment and adaptive behavior difficulties. The causes can be environmental, genetic, or epigenetic. Genetic causes account for approximately 50% of ID cases, while 25% of patients have some form of environmental interference as a causal factor. About 25% of cases still have no established etiology. The aim of this study is to use glycomics and methylation analysis as strategies to support the identification of genetic etiology in families with intellectual disability. Eight families with at least two affected individuals with either syndromic or non-syndromic ID were selected to participate. Cytogenetic testing, PCR, and exome sequencing were performed on samples from these patients. The samples will undergo glycoprotein profiling by mass spectrometry and methylation microarray analysis. The goal of this study is to identify new rare pathogenic variants associated with ID. It is also expected that the use of glycomics methods and methylation profiling will assist in identifying causative genes for ID that have not yet been described in the literature. The identification of new etiologies for ID will enhance the diagnostic capacity of the disease, thereby impacting patients' quality of life. Seven distinct variants in seven families with intellectual disability were identified through exome sequencing."

COMMITTEE MEMBERS:
Interna - 2295825 - ANA CAROLINA ACEVEDO POPPE
Externa à Instituição - ERICA CARINE CAMPOS CALDAS ROSA - MS
Presidente - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Externo ao Programa - 3117461 - ROLANDO ANDRE RIOS VILLACIS - null