MPS Awareness Day is an internationally recognised day that aims to encourage people to think about those affected by mucopolysaccharidoses (MPS) and related diseases, remember lives that have been lost, and celebrate current and future advances in research and treatments.
Further information on these devastating genetic rare diseases
MPS and related diseases are genetic lysosomal storage diseases caused by the body’s inability to produce specific enzymes. The cells of individuals with insufficient levels of these enzymes cannot carry out proper recycling processes, which lead to the storage of materials in virtually every cell of the body.
As a result, cells cannot function properly and this causes progressive damage to the body’s organs, such as the heart and bones, and systems such as the respiratory and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of materials.
Shockingly, one baby is diagnosed with an MPS or related disease every eight days in the UK and there is currently no cure, only treatment, for the symptoms as they arise. However, research is making great strides – carrier detection, the development of replacement enzymes, bone marrow transplantation and the possibility of gene therapy, are among today’s research themes and treatment options.
For more information on MPS Awareness Day, visit http://mpssociety.org. Support is needed to help increase public and professional awareness, fund medical research and help families with affected individuals.
Porterhouse Medical is proud to help raise awareness for this great cause. If you would like to learn more about our scientific and medical communications or our expertise in rare diseases, please contact email@example.com.