Can you describe your experience in conducting genetic research studies on rare neuromuscular disorders?

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Sample interview questions: Can you describe your experience in conducting genetic research studies on rare neuromuscular disorders?

Sample answer:

  • Experience in Rare Neuromuscular Disorders:

    • Led a team of researchers in conducting a comprehensive genetic study on a rare neuromuscular disorder, Charcot-Marie-Tooth disease (CMT), affecting the peripheral nervous system.
    • Collaborated with clinicians and geneticists to identify candidate genes responsible for the disease.
    • Performed detailed molecular analyses, including whole-exome sequencing, linkage analysis, and Sanger sequencing, to identify disease-causing mutations.
    • Identified novel mutations in several genes associated with CMT, expanding the genetic landscape of the disorder.
    • Findings were published in a peer-reviewed journal, contributing to the understanding of CMT’s genetic basis and providing potential targets for therapeutic interventions.
  • Expertise in Genetic Research Techniques:

    • Proficient in various genetic research techniques, including DNA extraction, PCR amplification, Sanger sequencing, and next-generation sequencing (NGS) platforms.
    • Experience in data analysis using bioinformatics tools and statistical methods to identify genetic variants associated with disease.
    • Stay up-to-date with advancements in genetic technologies and methodologies to ensure the use of cutting-edge approaches in research.
  • Clinical Collaboration and Patient Engagement:

    • Collaborated closely with clinicians and patients to understand the clinical manifestations, disease progression, and genetic heterogeneity of rare neuromuscular disorders.
    • Conducted detailed clinical evaluations, collected patient samples, and obtained informed consent for genetic studies.
    • Engaged with patient advocacy groups to disseminate research findings and provide support to affected individuals and families.
  • Publication and Presentation of Research Findings:

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