Rare Diseases

There are more than 7,000 different rare diseases, collectively affecting more than 350 million people around the world.

Given their rarity, these conditions are difficult to diagnose and treat. Patients can endure a long journey involving specialty doctors, tests, and misdiagnoses. Focusing on these uncommon and underserved medical conditions, our Rare Disease franchise is committed to empowering the lives of patients with rare diseases by offering sustainable, transformative healthcare options.

Built up over the years through both in-house development and strategic acquisitions and partnerships, our Rare Disease franchise focuses on medical areas including lysosomal storage disorders and endocrinology.

Our work includes the use of gene-based applications for a variety of rare disorders. For example, our industry-leading gene therapy work explores how gene manipulation can address patients with inherited neurodegenerative and ophthalmological diseases. We also develop partnerships with investigators in academia and industry to advance the development of this therapeutic concept.

Every area of our Rare Disease franchise serves small patient populations through personalized care and highly specialized products.

Inspired by patients around the world

Acid sphingomyelinase deficiency (ASMD) patient
Fabry disease patient
Pompe disease patient

Above from left to right: Alfie, acid sphingomyelinase deficiency, United Kingdom; Hsieh, Fabry disease, Taiwan; Ingo, Pompe disease, Australia

Pioneering research of lysosomal storage disorders

Lysosomal storage disorders (LSDs)—a group of rare genetic conditions caused by enzyme deficiencies—are a cornerstone of our business, and the medical area for which we are most well-known. These disorders are known as ‘orphan diseases’ and affect only a few thousand people worldwide.

Our first ten years of research focused primarily on finding a treatment for a LSD called Gaucher disease, the success of which established our leadership in the rare disease community. Over the next 2 decades we expanded our focus to include other LSDs including Fabry disease, Pompe disease and Mucopolysaccharidosis I (MPS I).

Our breakthrough work in genetic engineering and recombinant DNA manufacturing has enabled the large-scale production of enzyme replacement therapies (ERTs). ERTs work by breaking down the fatty substance that accumulates in peripheral cells due to the lack of native enzyme.

Ongoing innovation

We continue to focus on LSDs and addressing unmet needs among the rare disease communities. We're researching acid sphingomyelinase deficiency (ASMD), which currently has no treatments available, as well as therapies for other LSDs. We’re also applying our genetic expertise to new forms of treatment delivery such as oral therapies as compared to traditional intravenous infusion therapies.

We recently entered into a partnership with Alnylam Pharmaceuticals to co-develop and co-commercialize several investigational compounds for rare genetic diseases. These investigational products are a new class of therapeutics based on RNA interference. RNAi, also known as “gene silencing,” works by inhibiting the production of proteins that cause or contribute to the targeted disease. This partnership combines Alnylam’s expertise in this technology platform with our strong clinical development, commercial organizations, and established global infrastructure in rare diseases, helping us to continue to meet unmet needs in this patient community.


Our expertise in this space includes supporting diagnosis, treatment, and ongoing monitoring for certain thyroid cancers.

Supporting services

Because of the rarity of many of the diseases we treat, the patient and healthcare communities are small and often have limited resources. To support them, we are committed to providing services that complement our therapies.

  • We provide many qualified patients with case managers to help navigate the intricacies of insurance, and we have numerous programs worldwide to help facilitate patient access to treatment.
  • By establishing registries—large, often multinational databases to which physicians contribute clinical data on patients—for several LSDs, we help pool knowledge and improve understanding of rare diseases that would be otherwise difficult to study.
  • We develop a wide variety of educational materials, both in print and online, for patients and their families as well as health care professionals.
  • Our Patient Advocacy group is deeply involved in the patient communities, working to understand and advocate for their needs.
  • Our Medical Information team is dedicated to answering questions about the diseases we treat and our products.
  • Around the world, we partner with local patient organizations to support and advocate for the needs of their patient communities.
U.S. rare genetic diseases support
Patient services
We offer personalized, confidential support services to people living in the U.S. affected by Gaucher disease, Fabry disease, Pompe disease, or MPS I disease.
Learn about our LSD registries
These large, often multinational databases of clinical data, aggregate knowledge to help improve understanding of rare diseases that would be otherwise difficult to study.

This website uses cookies to track its audience and improve its content. By continuing to browse this website, you agree to the use of such cookies.

Click here for more information on cookies.