Associate Director, Medical Diagnostics, Rare Diseases

BioMarin is a leading rare disease biotechnology company focused on genetically defined conditions. Guided by our purpose to develop medicines that make a profound impact on people’s lives, our global teams have delivered a portfolio of therapies since our founding in 1997. Our revolutionary treatments for conditions like achondroplasia (the most common form of dwarfism), PKU (phenylketonuria), CLN2, a form of Batten disease, and a number of forms of MPS (mucopolysaccharidosis) offer new possibilities for patients and families who previously had few, if any, available options. More recently, with the close of the Amicus acquisition, our portfolio has expanded to include therapies for Fabry disease and Pompe disease, expanding our ability to reach more people living with rare genetic conditions. Our success comes from our unwavering commitment to excellence, our deep understanding of patient needs, our scientific expertise, and our world-class manufacturing capabilities. At the heart of BioMarin is a dedicated team of the brightest minds in the industry working together to deliver innovative therapies to patients and families around the world. About Worldwide Research and Development From research and discovery to post-market clinical development, our R&D engine involves all bench and clinical research and the associated groups that support those endeavors. Our teams work on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with rare diseases. The Associate Director, Medical Diagnostics, will play a pivotal role in advancing diagnostic excellence for patients with rare genetic diseases by developing and implementing strategies that improve disease recognition, accelerate diagnosis, and optimize patient identification.  Working in the Global Medical Affairs organization, this individual will collaborate with healthcare professionals, diagnostic laboratories, public health organizations, and internal cross-functional teams to develop disease-specific diagnostic ecosystem strategies,  enhance specific  biomarker and genetic testing, optimize rare-disease testing and newborn screening  adoption in healthcare system and identify opportunities to increase awareness of rare diseases. The role focuses on enabling earlier and accurate diagnosis through innovative diagnostic approaches, diagnostic laboratory partnerships, implementation science, and emerging technologies including artificial intelligence (AI).  The successful candidate will possess strong scientific expertise in rare diseases, genetics, health care and diagnostics, along with exceptional relationship-building skills and the ability to influence diverse stakeholders within a highly collaborative, matrixed pharmaceutical organization.

Diagnostic Strategy & Patient Identification   Develop and implement medical diagnostic strategies that improve identification of patients with rare genetic diseases.    Advance biomarker and genetic testing initiatives to facilitate earlier and more accurate diagnosis.    Drive improvements in diagnostic testing practices through multidisciplinary engagement with clinician healthcare, policy makers and laboratory partners.        Scientific Engagement & Disease Awareness   Serve as a scientific resource on rare genetic diseases, biomarkers, genetic testing and diagnostic pathways.    .    Increase diagnostic awareness through evidence-driven approaches and stakeholder engagement.    Deliver high-quality scientific presentations to clinicians, laboratory professionals, and other healthcare stakeholders.      Laboratory & External Partnerships   Build collaborative relationships with laboratories conducting sponsored testing programs and other diagnostic partners.    Partner with laboratory organizations to improve access to appropriate biomarkers and