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Our Approach to Research & Development

Our scientific curiosity, pioneering spirit and fundamental understanding of the conditions we seek to treat make it possible to take on the biggest challenges in rare disease, resulting in first-in-class or best-in-class therapies.

Translating genetic discoveries into innovative medicines

BioMarin is committed to the translation of genetic discoveries into medicines with the potential to change the course of rare diseases. We focus on conditions with precisely understood mechanisms, and develop targeted therapeutic interventions that address the underlying cause of the disease.

Deep technical expertise in molecular medicine

The principle is simple. The promise is enormous.

Genes in our DNA provide the codes needed to produce proteins that are essential for how cells function. Mutations in such genes can lead to missing or non-functional proteins, which can result in debilitating and life-threatening diseases. When BioMarin was founded over two decades ago, the company focused on a treatment approach called enzyme replacement therapy – developing synthetic versions of proteins missing in rare genetic conditions such as MPS IVA, MPS VI, PKU and CLN2.

Today, BioMarin remains at the forefront of molecular medicine by designing breakthrough technologies that address the underlying cause of genetic disease – DNA. BioMarin is investigating the use of adeno-associated virus (AAV) gene therapy to deliver short strands of DNA to cells, which the body can use as templates for creating the proteins it needs, using its own, native machinery. This therapeutic platform leverages decades of research and scientific advancements and has the potential to treat many different conditions. Many of the original pioneering minds in AAV gene therapy are contributing as part of the BioMarin team, and we collaborate with other leaders in the field, including DiNAQOR, Skyline Therapeutics and the Allen Institute, as part of our commitment to developing promising gene therapy candidates. BioMarin sets a gold standard in the production of gene therapies, as one of very few therapeutic development companies with our own manufacturing facility.

BioMarin’s pipeline has the potential to deliver innovation in a number of rare diseases, with gene therapies and other novel treatments in development.

This Site may contain information on worldwide therapies, not all of which are available or registered in every country. A reference to any therapy area/gene therapy on this Site does not imply that therapy is or will be available in your location. Any therapy referred to on this Site may be subject to different regulatory requirements depending on the country of use. All information on this Site is not designed or intended as a promotion or advertisement for any product or for the use of any product that is not authorized by the laws and regulations of your country of residence.


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Gene Therapy

Discover more about genes and the new therapeutic platform of gene therapy.

Learn More visit HaemDifferently.eu

Our Scientists

Meet the team behind our pioneering science.

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Our Pipeline

We take on the biggest challenges in rare disease.

Each drug candidate we pursue is guided by a fundamental understanding of the genetics and underlying biology of the condition we hope to address.

Learn More about our pipeline

Clinical Trials

More than 25 years of proven clinical success.

Our thoughtful approach to clinical trial design enables us to move fast and efficiently while protecting the safety of our patients.

View Now clinical trials page

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Funding & Support

We support programmes and activities that foster excellence in patient care and provide valuable scientific, medical, and educational information.

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