Banca de QUALIFICAÇÃO: ABIGAIL GABRIELLI DANTAS RODRIGUES ALBUQUERQUE

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : ABIGAIL GABRIELLI DANTAS RODRIGUES ALBUQUERQUE
DATE: 25/09/2025
TIME: 10:00
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: 40
BIG AREA: Ciências da Saúde
AREA: Fonoaudiologia
SUMMARY:

Non-syndromic hearing loss of genetic origin is a complex and heterogeneous condition, which makes its
diagnosis challenging due to the diversity of genes involved. In this context, the objective of this dissertation
was to identify and characterize genes and pathogenic variants associated with this condition. The research
was structured into two manuscripts. The first is a systematic review and meta-analysis, with a protocol
registered on the PROSPERO platform (CRD420251058444), intended to analyze and describe the genes
and variants most frequently associated with nonsyndromic hearing loss. The research was conducted based
on the recommendations of the Preferred Reporting Items for Systematic Reviews (PRISMA). The search
included the Cochrane Library, PubMed/MEDLINE, SciELO, LILACS, Embase, Web of Science, and
Scopus databases, as well as grey literature. The second manuscript consists of a descriptive and exploratory
study, based on a two-step curation methodology. The first step involved collecting public domain
information from international databases, making it possible to assess the robustness of the scientific
evidence for the correlation between each gene and the pathology. For the second step, secondary and
anonymized data from a Brazilian laboratory network will be incorporated, with the aim of identifying the
genes most frequently tested in national clinical practice. The integration of scientific evidence and
laboratory reality will allow for the proposal of a genetic panel for nonsyndromic hearing loss. It is expected
that the findings will support the development of a more precise diagnostic tool, strengthening genetic
counseling, early intervention, and contributing to the advancement of 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