Associate Director, Medical Diagnostics, Rare Diseases

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San Rafael

BioMarin Pharmaceutical

Associate Director, Medical Diagnostics, Rare Diseases

Location: San Rafael, United States

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Who We Are

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 peopleâ€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.Â

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).Â

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.Â

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Key ResponsibilitiesÂ

Diagnostic Strategy & Patient IdentificationÂ

• Develop and implement medical diagnostic strategies that improve identification of patients with rare genetic diseases. Â
• Advance biomarker and genetic testing initiatives to facilitate earlier and more accurate diagnosis. Â
• Drive improvements in diagnostic testing practices through multidisciplinary engagement with clinician healthcare, policy makers and laboratory partners. Â
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Scientific Engagement & Disease AwarenessÂ

• Serve as a scientific resource on rare genetic diseases, biomarkers, genetic testing and diagnostic pathways. Â
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• Increase diagnostic awareness through evidence-driven approaches and stakeholder engagement. Â
• Deliver high-quality scientific presentations to clinicians, laboratory professionals, and other healthcare stakeholders. Â

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Laboratory & External PartnershipsÂ

• Build collaborative relationships with laboratories conducting sponsored testing programs and other diagnostic partners. Â
• Partner with laboratory organizations to improve access to appropriate biomarkers and genetic testing. Â
• Collaborate with healthcare professionals, laboratory leaders, and policymakers to communicate disease-state information and support earlier diagnosis. Â
• Identify opportunities to enhance laboratory utilization and diagnostic testing practices. Â

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Innovation & Healthcare TransformationÂ

• Contribute to the development of AI-enabled and data-driven strategies that improve diagnostic speed, accuracy, and patient identification. Â
• Utilize implementation-science methodologies to improve diagnostic workflows and healthcare system adoption. Â
• Support initiatives leveraging electronic health records (EHRs), clinical databases, and real-world evidence to identify patients earlier in the disease journey. Â
• Contribute to innovative diagnostic initiatives while ensuring appropriate ethical, regulatory, and compliance standards. Â

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Cross-Functional CollaborationÂ

Partner closely within Medical Affairs, Genomics, Clinical Development, Commercial, Regulatory Affairs, Government Affairs, Patient Advocacy, and Data Science teams.Â

• Translate medical insights into actionable diagnostic initiatives that support broader organizational objectives. Â
• Operate effectively within a matrix organization while fostering collaboration across multiple functional areas. Â

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QualificationsÂ

RequiredÂ

• Advanced degree required (MD, PharmD, or PhD) in Medicine, Pharmacy, Genetics, Molecular Biology, Biomedical Sciences, Public Health, or a related scientific discipline. Â
• Minimum 8 yrs experience within Medical Affairs, Diagnostics, Precision Medicine, or Rare Diseases in the pharmaceutical or biotechnology industry. Â
• Strong understanding of rare genetic disorders and associated diagnostic pathways. Â
• Demonstrated knowledge of biomarkers, molecular diagnostics, genetic testing methodologies, and biochemical marker interpretation. Â
• Experience collaborating with clinical laboratories, diagnostic partners, or sponsored testing programs. Â
• Excellent scientific communication, presentation, and stakeholder engagement skills. Â
• Demonstrated ability to work successfully within a cross-functional matrix organization. Â

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PreferredÂ

• Experience in rare disease therapeutics. Â
• Knowledge of newborn screening techniques, policies, and public health screening programs in the United States and globally. Â
• Experience with implementation science, real-world evidence, and healthcare data analytics. Â
• Understanding of variants of uncertain significance (VUS) and their clinical implications. Â
• Experience developing family screening or cascade testing strategies. Â
• Familiarity with artificial intelligence and digital health applications in diagnostics. Â
• Knowledge of state-based public health systems and laboratory networks. Â

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Core CompetenciesÂ

The successful candidate will demonstrate:Â

• Strong strategic thinking with the ability to translate scientific insights into actionable diagnostic initiatives. Â
• Deep clinical understanding of rare genetic diseases, biomarkers, and diagnostic pathways. Â
• Excellent communication and presentation skills across scientific, clinical, and executive audiences. Â
• Outstanding relationship-building and stakeholder management capabilities. Â
• Ability to educate healthcare professionals through meaningful, compliant scientific exchange. Â
• Strong collaboration and influence within cross-functional teams. Â
• High level of initiative, accountability, and execution. Â
• Analytical mindset with experience utilizing healthcare data to improve patient identification. Â
• Ability to manage multiple priorities while delivering measurable results. Â

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Technical ExpertiseÂ

• Rare genetic diseases Â
• Biomarkers and molecular diagnostics Â
• Genetic and biochemical assays Â
• Precision medicine Â
• Diagnostic pathways Â
• Sponsored testing programs Â
• Laboratory medicine Â
• Variants of uncertain significance (VUS)Â Â
• Newborn screening Â
• Public health screening programs Â
• Electronic health records (EHRs)Â Â
• Real-world evidence Â
• Implementation science Â
• Artificial intelligence in diagnostics Â
• Family screening and cascade testing Â
• Healthcare systems and referral pathways Â

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Success MeasuresÂ

Success in this role will be demonstrated by:Â

• Increased utilization of appropriate biomarker and genetic testing. Â
• Improved awareness of rare diseases among healthcare professionals. Â
• Earlier diagnosis and improved patient identification. Â
• Successful partnerships with laboratories and key healthcare stakeholders. Â
• Increased identification of undiagnosed or misdiagnosed patients. Â
• Enhanced diagnostic pathways and referral networks. Â
• Effective cross-functional collaboration that advances Medical Affairs objectives. Â
• Successful implementation of innovative diagnostic and AI-enabled initiatives that improve patient outcomes. Â

Note: This description is not intended to be all-inclusive, or a limitation of the duties of the position. It is intended to describe the general nature of the job that may include other duties as assumed or assigned.

Equal Opportunity Employer/Veterans/Disabled

An Equal Opportunity Employer. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, or protected veteran status and will not be discriminated against on the basis of disability.

Ireland Safety Responsibility

Support the organisationâ€s commitment to environmental protection, injury prevention, and continual improvement of EHS management systems. Actively contribute to a safe and environmentally responsible workplace by identifying hazards, reporting incidents and participating in EHS initiatives and training.

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Recruitment Fraud Alert Notice

Please be aware of fraud or scams from individuals, organizations and/or internet sites claiming to represent BioMarin in recruitment activities. We have an established recruitment process which is required for all posted positions by BioMarin prior to issuing an offer of employment. This BioMarin process requires formal interviews conducted live with personnel representing BioMarin and never requires payments or fees from job applicants. BioMarin does not conduct interviews via texting tools such as RingCentral.

In the event you receive a suspicious email message about recruiting on behalf of BioMarin, unless it's from a BioMarin authorized recruiting partner, do not provide any personal information or pay any fees. Qualified and interested candidates should apply to current openings directly through this BioMarin website. BioMarin accepts no responsibility for any costs or charges incurred as a result of fraudulent activity.

If you have lost money or provided your personal identifying information, please contact your bank and report the matter to the FBI via www.ic3.gov. We would also suggest you notify your local police department and monitor your credit.

For more information on how to recognize and report phishing scams visit: https://consumer.ftc.gov/articles/how-recognize-and-avoid-phishing-scams or https://consumer.ftc.gov/consumer-alerts/2023/01/looking-job-scammers-might-be-looking-you

Equal Opportunity Employer/Veterans/Disabled

An Equal Opportunity Employer. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, or protected veteran status and will not be discriminated against on the basis of disability.

If you have a disability and believe you need a reasonable accommodation in order to search for a job opening or apply for a position, email Applicant_accommodations@bmrn.com with your request.

This email address is not for general employment inquiries or correspondence. We will only respond to those requests that are related to the accessibility of the online application system due to a disability.

BioMarin Pharmaceutical does not accept unsolicited resumes from recruiters or agencies and we will not be responsible for any fees related to resumes that are unsolicited. We handle all recruiting through our Talent Acquisition team â€" please do not contact hiring managers directly. Agencies who wish to offer their services to BioMarin Pharmaceutical may contact us at talentacquisition@bmrn.com.

Applicants, please do not use this email address to submit resumes â€" if you do so, you will be redirected to apply through the website.

Click here to review "EEO Is The Law" poster. Click here to review the Pay Transparency Nondiscrimination Statement. Click here to review the Notification of Employee Rights under Federal Labor Laws.

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