We’re seeking solutions for rare diseases

Today millions of people around the world are joining together to show their support for people living with rare diseases.

As the name implies, a rare disease affects a small number of people  fewer than 200,000 Americans at any one time. Collectively, though, rare diseases are not uncommon. There are around 7,000 known rare diseases affecting approximately 25 million people in the US. 

Nearly 80% of rare diseases are caused by faulty genes and it's estimated that about half affect children. Currently there are treatments for fewer than 5% percent of all identified rare diseases. We see this as a challenge that needs to be met, for the benefit of patients, their families and loved ones.

At GSK, we have an integrated rare diseases unit – a dedicated team working to harness our scientific expertise, partnerships, global reach and manufacturing capacity to develop and deliver much needed medicines.

We are collaborating with others and have active research programs in a number of rare diseases including:

  • ADA- SCID (adenosine deaminase deficiency – severe combined immunodeficiency) an inherited life-threatening immune deficiency, usually diagnosed in babies before 6 months of age)
  • MLD (metachromatic leukodystrophy) which causes degeneration in the white matter of the brain and central nervous system
  • WAS (Wiskott-Aldrich Syndrome) an inherited immune deficiency disease affecting the function of white blood cells, almost exclusively in males
  • Amyloidosis, a blood disorder that causes a substance called amyloid to build up in the organs
  • PAH (pulmonary arterial hypertension) a progressive disease characterized by abnormally high blood pressure in the blood vessel that carries blood from the heart to the lungs

You can read more about our commitment in this Q&A with Martin Andrews, Senior Vice President of GSK Rare Diseases, and join us in showing support for rare disease patients worldwide.