Research Director - Genetics

What You’ll Accomplish:

• Lead end-to-end research strategy for complex and rare disease cases, delivering clear, prioritized, evidence-based treatment pathways
• Identify diagnostic gaps and recommend advanced testing strategies that refine diagnoses and inform care decisions
• Evaluate standard-of-care and investigational therapies globally, including clinical trial opportunities

How You’ll Spend Your Days:

• Analyze patient medical records, extract and track lab values, symptoms, medication histories, and clinical outcomes.
• Conduct deep literature searches (PubMed, Google Scholar, specialty databases), synthesize findings, compare clinical studies, and present insights in clear, accessible language.
• Evaluate clinical and molecular data to identify diagnostic gaps and recommend evidence-based testing strategies.

What you bring to the table:

• 3+ years of professional experience in rare genetic diseases, metabolic/acidemia disorders, and/or mitochondrial dysfunction & PhD in a related field required.
• Deep familiarity with medical literature review best practices and research databases (e.g., PubMed, Google Scholar).
• Ability to evaluate complex and sometimes conflicting data to generate structured, defensible recommendations.