Rare Diseases: Genetic Diseases

There are an estimated 350 million people around the world living with a rare disease of which 80% genetic in origin. This is an immense challenge that can seem insurmountable, but at Takeda we meet it head on by committing ourselves fully to the fight against these challenging conditions.

Rare genetic diseases can have symptoms that vary widely and progress very differently from person to person, which means that people affected by these diseases are frequently misdiagnosed.

We have a strong legacy in developing therapies for lysosomal storage disorders (LSDs), with a portfolio that includes commercial products, late-stage investigational therapies, and pipeline candidates, as well as a robust R&D program.

We empower global education and awareness, and partner with other medical and research organizations—continuously working to reduce the amount of time between the onset of symptoms and diagnosis, and accelerate the development of innovative new treatments.

Genetic diseases in our focus:

Fabry Disease

Fabry disease is a lysosomal storage disorder (LSD) that interferes with the body's ability to break down a specific fatty substance (globotriaosylceramide or Gb3). It affects an estimated 8,000 to 10,000 people worldwide, including both males and females.

Hunter Syndrome

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAGs. Hunter syndrome is one of several related lysosomal storage diseases.

Type 1 Gaucher Disease

Type 1 Gaucher disease is a rare, inherited metabolic condition, and the most common of a family of rare diseases known as lysosomal storage disorders (LSDs). It affects approximately 1 in 100,000 people in the general population, and 1 in 855 people in the Ashkenazi Jewish community. Patients with type 1 Gaucher disease may experience varying symptoms and degrees of disease severity, making it difficult to diagnose.

 

References

Global Genes Rare Disease Impact Report, https://globalgenes.org/rare-diseases-facts-statistics/ Accessed January 23, 2018

GuggenbuhlP, GrosboisB, ChalèsG. Gaucher disease. Joint Bone Spine. 2008;75(2):116-124.