Associate Director, Medical Diagnostics, Rare Diseases

Role: Associate Director, Medical Diagnostics, focused on enhancing diagnostic strategies for rare genetic diseases to improve early detection and patient identification. Responsibilities include developing and implementing diagnostic ecosystem strategies, advancing biomarker and genetic testing, fostering laboratory and healthcare partnerships, and leveraging innovative technologies like AI and real-world evidence. The role entails serving as a scientific resource, increasing disease awareness, and collaborating cross-functionally with Medical Affairs, Genomics, Clinical Development, and other teams to translate scientific insights into diagnostic initiatives. Qualifications: advanced degree (MD, PharmD, PhD) with at least 8 years' experience in Medical Affairs, Diagnostics, or Rare Diseases within pharma or biotech. Deep expertise in rare genetic disorders, biomarkers, molecular diagnostics, and laboratory collaborations required. Preferred: experience in rare disease therapeutics, newborn screening, implementation science, AI in diagnostics, and public health systems. High-value specifics include focus on rare diseases such as MPS, PKU, Fabry, Pompe, and related diagnostic pathways, with emphasis on improving diagnostic workflows, awareness, and early patient detection through innovative, ethical, and compliant approaches. The candidate must demonstrate strategic thinking, stakeholder engagement, and collaboration skills, with success metrics tied to testing utilization, disease awareness, early diagnosis, and partnership development.