Genetics and Genomics
Galactosemia - A family's fight against this rare orphan disease
After their son Oliver was diagnosed with galactosemia, Jamie and Erin Siminoff decided they would devote their life to helping to cure this disease and many others like it.
Galactosemia is a disorder in which an individual is unable to metabolize the sugar galactose, found in milk. Not to be confused with lactose intolerance, galactosemia is a serious genetic disease that, even with treatment, can have lifelong effects. Without treatment, most affected newborns do not survive. Typically diagnosed in newborn screening tests, galactosemia can be treated only by entirely removing lactose and galactose from the diet. There is no cure yet.
A rare disease is one that affects fewer than 200,000 people, but there are nearly 7,000 rare diseases affecting about 30 million Americans, or one in ten.
Here at Children’s Hospital Boston, the Manton Center for Orphan Disease Research was created to develop new methods for understanding, diagnosing and treating unusual diseases and to apply this knowledge to make fundamental scientific advances with broad implications for human health.