1 in 20 live with a rare disease

1 in 20 people live people with a rare disease...

... a population which is often overlooked. For a disease to be considered rare it will affect fewer than 200,000 in the US and fewer than 2,000 in Europe. Large populations of people, but when you then consider there are over 7000 diagnosed rare diseases why are we still having to raise awareness for conditions which affect so many globally?

Rare diseases are often genetic, directly caused by changes in genes or chromosomes. Genetic conditions can be passed from one generation to the next, in other cases, they occur randomly in a person in the family. Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited. While researchers are learning more each year, the exact cause of many rare diseases is still unknown.

That's why we must all support rare disease day and learn more about how we can assist these populations and support future research within their conditions. Below is a list of the rare diseases we are proud to have supported research in. We hope to continue to make clinical trial participation easier and less stressful for rare disease patients.

  • AA Amyloidosis
  • Acquired hemophilia A
  • Acquired thrombotic thrombocytopenic purpura
  • Acromegaly
  • Alpha-1 Antitrypsin Deficiency
  • Amyotrophic Lateral Sclerosis (ALS)
  • Beta-thalassemia (BT)
  • Carcinoid syndrome
  • Congenital hemophilia A
  • Cutaneous T-Cell Lymphoma
  • Cystic fibrosis
  • Dermatomyositis
  • Duchenne muscular dystrophy (DMD – 8 studies)
  • Epidermolysis bullosa (EB)
  • Fabry’s disease
  • Friedreich’s Ataxia
  • Gastrointestinal Genetic Obesity
  • Graves’ disease
  • Growth Hormone Deficiency
  • Hunter’s syndrome
  • Ischemic Stroke
  • Isolated hypogonadotropic hypogonadism (IHH)
  • Lipodystrophy
  • McArdle’s Disease
  • MELAS syndrome
  • Mitochondrial Myopathy
  • Mucopolysaccharidosis I (MPS I)
  • Mucopolysaccharidosis II (MPS II)
  • Multiple Sclerosis
  • Myasthenia Gravis
  • Nelson’s syndrome
  • Niemann-Pick Type C
  • Paroxysmal Nocturnal Haemoglobinuria
  • Pompe Disease
  • Primary Hyperoxaluria
  • Primary Hyperoxaluria
  • Sanfilippo Syndrome
  • Von Willebrand Disease