While each rare disease is by definition rare, the total number of people affected by all rare diseases is high. Today, some 1.2 million Australian’s, including 400,000 children, live with a rare disease¹.

Because they are so rare, these diseases can be difficult to diagnose and treat. Patients can endure journeys to diagnosis that include extensive testing, misdiagnoses, and consultations with a range of specialist physicians.  

By working closely with specialist physicians and small patient communities our rare disease team is able to develop a deep understanding of their needs and priorities. We are committed to providing services, information and advocacy in support.

Inspired by our patients

Baylin & Thomas diagnosed with Pompe in 2015

Sophie is one of 400 living with Fabry in Australia

Andrew is living with Multiple Sclerosis

Pioneering research and treatment of lysosomal storage disorders

Lysosomal storage disorders are a cornerstone of our presence in rare diseases, and the medical area for which we are most well-known. These disorders, which are known as “orphan diseases” include conditions such as: Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidosis 1 (MPS 1), and affect only a few thousand people worldwide.

Sanofi’s breakthrough work in genetic engineering and recombinant DNA manufacturing enabled the large-scale production of enzyme replacement therapies, which work by breaking down the fatty substances or sugars that accumulate in cells due to the lack of native enzyme.

Multiple Sclerosis

Often diagnosed between the ages 20 and 40, more than 23,000 Australians are living with multiple sclerosis or MS.

MS is a disease that affects each person differently, with symptoms ranging from numbness in the limbs or forgetfulness, to paralysis or loss of vision. It is caused when the body’s immune system attacks the central nervous system, damaging the myelin sheath—the protective layer covering the nerves that carry signals between the brain and spinal cord and the rest of the body.

We are committed to maintaining long-term partnerships with patients, physicians, advocates, and researchers and making a significant impact on people living with MS.