Rare diseases World Day
Today is the rare diseases world day and in Star Wars Catalunya we want to remember two of the projects with which we collaborate raising funds for the investigation of two of these denominated rare diseases.
One of the projects investigates non-ketosis hyperglycemia.
Non-ketosic hyperglycinemia is a congenital error in glycine metabolism that causes an accumulation of this amino acid in blood, urine and brain. It is also known as hyperglycinemic encephalopathy.
Another investigates the duplication syndrome mecp2.
MECP2 doubling syndrome is a minority genetic disease that affects mostly males.
It is an essential protein in the body, found on the X chromosome in the Xq28 region.
If you want to know more about these rare diseases and collaborate with your fundraising projects, do not forget to visit: