Associate Director, Medical Diagnostics, Rare Diseases

Role: Associate Director, Medical Diagnostics — focus on advancing diagnostic strategies for rare genetic diseases to enable earlier, more accurate diagnosis and improve patient identification. Responsibilities: develop and implement diagnostic ecosystem strategies, enhance biomarker and genetic testing, foster laboratory and diagnostic partner collaborations, and leverage innovative approaches including AI and implementation science. Engage with healthcare professionals, policymakers, and internal teams across Medical Affairs, Genomics, Clinical Development, and Data Science to translate insights into diagnostic initiatives, increase disease awareness, and support healthcare system integration. Qualifications: advanced degree (MD, PharmD, PhD) in relevant fields, with at least 8 years experience in Medical Affairs, Diagnostics, or Rare Diseases within biotech or pharma, and strong knowledge of biomarkers, molecular diagnostics, and genetic testing. Preferred: experience in rare disease therapeutics, newborn screening, real-world evidence, AI in diagnostics, and public health policies. High-Value: expertise in rare genetic disorders, biomarkers, genetic testing methodologies, diagnostics pathways, and healthcare data analytics; familiarity with VUS, family screening, and global newborn screening programs. Collaboration: cross-functional engagement with external laboratories, healthcare providers, and policy stakeholders. The role involves strategic influence, stakeholder management, and leveraging healthcare data to improve diagnostic practices. Work setup and travel details are not specified.