NIH awards Penn Medicine and Children’s Hospital of Philadelphia $26 million grant to develop therapies for rare newborn genetic diseases
PHILADELPHIA—A Penn Medicine and Children’s Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).
The research will focus on three genetic diseases that impact newborns in the first weeks and months after birth: Phenylketonuria (PKU), hereditary tyrosinemia type 1 (HT1), and mucopolysaccharidosis type 1 (MPSI), commonly known as Hurler’s Syndrome. PKU causes an amino acid—called phenylalanine—to build up in the body, and as long as treatment begins at birth, PKU is ...












