OUR VISION
To find a cure for Congenital Disorders of Glycosylation (CDG)
OUR MISSION
Fund research for developing a cure and treatment for CDG, advocate for CDG screening, raise awareness about CDG and provide assistance to CDG families.
Amour Science Foundation
To find a cure for Congenital Disorders of Glycosylation (CDG)
Fund research for developing a cure and treatment for CDG, advocate for CDG screening, raise awareness about CDG and provide assistance to CDG families.
PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide.
Source: https://en.wikipedia.org/wiki/PMM2_deficiency
Amour means ‘Resilient’ in Armenian and ‘Love’ in French. It’s not a coincidence that CDG kids are Amour. Our goal is for children with CDG to be ‘Amour’ so that they can live to their fullest potential, walk, talk, smile and laugh like all children. The ultimate vision of the Amour Fund is to find a cure for Congenital Disorders of Glycosylation (CDG) by supporting CDG research. Amour fund honors disadvantaged children, raises awareness about rare diseases, advocates for screening, and provides assistance to those in need.