Contact Details
University Links
- Position
- PhD student
- Department
- Department of Paediatrics and Child Health (Dunedin)
- Qualifications
- Medicial geneticist, Bachelor’s degree in Biological Sciences; Master’s degree in Genetics and Developmental Biology.
- Research summary
- The clinical and molecular basis of FLNA-filaminopathies
- Teaching
- Teaching in the Medicine programme at the State University of Bahia, Brazil
- Clinical
- Medical geneticist in Brazil
Research
Skeletal dysplasias are genetic disorders affecting bones and cartilage, with wide clinical variability. Among them, filaminopathies (caused by FLNA mutations) present highly heterogeneous manifestations and remain partly unresolved, especially in patients without a defined genetic diagnosis.
This study aims to reassess unresolved cases, improve genotype–phenotype correlations (with a focus on Melnick–Needles syndrome), and investigate the functional effects of FLNA variants, including their impact on mechanosensation, cytoskeletal organization, and cell migration. It also evaluates the role of TAK1 and TAB2 mutations and their interaction with FLNA-related pathways.
The methodology includes reanalysis of genomic sequencing data, biochemical assays, and cellular experiments.
The study is expected to clarify molecular mechanisms underlying filaminopathies, including effects on the cytoskeleton, cell migration, and the potential role of macrophages in bone formation, contributing to improved diagnosis and future therapeutic strategies.