Banca de DEFESA: ABIGAIL GABRIELLI DANTAS ALBUQUERQUE CHOU

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : ABIGAIL GABRIELLI DANTAS ALBUQUERQUE CHOU
DATE: 30/03/2026
TIME: 15:00
LOCAL: Plataforma Google Meet
TITLE:

Non-syndromic hearing loss: an analysis of associated genes.

KEY WORDS:

Hearing Loss. Genetic Testing. Precision Medicine. Genetic Counseling. Early Diagnosis.

PAGES: 80
BIG AREA: Ciências da Saúde
AREA: Fonoaudiologia
SUMMARY:

Nonsyndromic genetic hearing loss is a complex and heterogeneous condition, which makes its diagnosis challenging due to the diversity of genes involved. In this context, this dissertation aimed to identify and characterize genes associated with nonsyndromic hearing loss. The research was structured into two manuscripts. The first consists of a scoping review, registered on the Open Science Framework platform (DOI: 10.17605/OSF.IO/96D2Q), designed to analyze and describe the genes most frequently associated with the condition, following the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews and the Joanna Briggs Institute Manual for Evidence Synthesis. The search included the Cochrane Library, PubMed/MEDLINE, SciELO, LILACS, Embase, Web of Science, Scopus, and gray literature databases. The second manuscript consists of a descriptive and exploratory study based on a curation methodology. The curation involved collecting publicly available information from international databases, enabling the assessment of the robustness of scientific evidence supporting the correlation between each gene and the pathology. The integration of scientific evidence and the systematic analysis of available data enabled the development of a genetic panel focused on nonsyndromic hearing loss. In the first manuscript, 122 studies published between 2000 and 2025 were included, with a higher concentration of publications from Asia. Regarding genetic characteristics, 98 genes were investigated, with GJB2, mitochondrial genes, GJB6, and SLC26A4 standing out. A predominance of autosomal recessive inheritance, prelingual onset, and sensorineural hearing loss was observed, with a higher frequency of severe to profound degrees. In the second manuscript, the curation confirmed the clinical relevance of the GJB2 gene and enabled progress in defining priority genes for the composition of a targeted panel. Thus, despite the genetic heterogeneity of nonsyndromic hearing loss, certain genes concentrate greater clinical relevance, and their systematization supports the development of more accurate and clinically applicable diagnostic panels, with the potential to strengthen genetic counseling, promote early intervention, and contribute to advances in personalized medicine.

COMMITTEE MEMBERS:
Externa à Instituição - DANIELLE BARBOSA MORAIS - UFOP
Presidente - 2358823 - ELIENE SILVA ARAUJO
Interna - ***.092.134-** - KELLY CRISTINA LIRA DE ANDRADE - UNCISAL