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Reproductive Genetics & Genomic Medicine

Human Infertility, Whole-Exome Sequencing (WES), and Functional Validation.

General Research Overview: My research in this domain focuses on the molecular and genetic architecture of human reproductive disorders, specifically male infertility. By integrating Whole-Exome Sequencing (WES) with functional genomics, I investigate the pathogenic variants responsible for complex phenotypes such as Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and Acephalic Spermatozoa Syndrome. My work aims to provide definitive molecular diagnoses for consanguineous families and to elucidate the fundamental mechanisms of germ cell development.

Core Areas of Impact:

  • Novel Variant Discovery: I have successfully identified and characterized several novel homozygous pathogenic variants in genes such as TTC12, DNAH8, TSGA10, and NPHP4, providing genetic answers for previously idiopathic cases of male infertility.
  • Functional Genomics: Beyond identification, my research involves the functional validation of these variants using in vivo models and in silico analysis to confirm their roles in spermatogenic failure and ciliary dyskinesia.
  • Precision Reproductive Health: I lead investigations into how trace element imbalances (e.g., Zinc, Selenium, and Mercury) correlate with altered semen parameters, bridging environmental health with clinical reproductive outcomes.
  • Genomic Diagnostics: My research emphasizes the development of bioinformatic pipelines for the analysis of consanguineous pedigrees, improving the accuracy of variant prioritization in precision diagnostics.

Technical Expertise:

  • Genomic Pipelines: Advanced proficiency in Whole-Exome Sequencing (WES) analysis, linkage studies, and variant interpretation.
  • Functional Validation: Experience with CRISPR/Cas9 gene editing for creating knock-out models to study gene function in meiosis and fertility.
  • Structural Bioinformatics: Application of in silico tools to predict the impact of missense and frameshift mutations on protein stability and function.