Posts Categorized: Center for Rare Disease Therapy

Lysosomal Disorders: Bridging the way to the future of genetic treatments

Lysosomal storage disorders represent a small portion of diseases of inner cell metabolism but are a big influence on new treatment options for genetic disorders. The lysosome is a small bag of enzymes inside each cell that recycles large, complex molecules that help create the specific structures of body (brain, bones, heart, blood vessels, liver,… Read more »

Our Miracle Baby

Our daughter Elizabeth was born prematurely in 2013 after a difficult pregnancy, and has been diagnosed with multiple genetic diseases. She is no stranger to doctors and hospitals, and we are very grateful for Children’s Hospital of Pittsburgh of UPMC. Her primary diagnosis is a rare genetic disease called ZTTK Syndrome, which is a severe… Read more »

Our Miracle

Today is Rare Disease Day. The main objective of this day is to raise awareness about rare diseases and their impacts on patients’ and their families’ lives. In the United States, a condition is considered “rare” if it affects fewer than 200,000 persons combined in a particular rare disease group, according to Global Genes. Ian… Read more »