Childhood Degenerative & Metabolic Disorders News


Jul 16, 2018
Fetal gene therapy prevents fatal neurodegenerative disease
A fatal neurodegenerative condition known as Gaucher disease can be prevented in mice following fetal gene therapy.
May 25, 2018
New treatment approved for phenylketonuria
Novel enzyme therapy is for adult patients with phenylketonuria who have uncontrolled blood phenylalanine concentrations on current treatment.
Dec 14, 2017
2-hydroxypropyl-beta-cyclodextrins and blood-brain barrier in Niemann-Pick Disease type C1
A new data review concludes that 2-hydroxypropyl-β-cyclodextrin (HPβCD) does not cross the blood-brain barrier in therapeutically relevant amounts to address the neurological manifestations of Niemann-Pick Disease Type C1.
Mar 30, 2017
Stem cells help explain varied genetics behind Pelizaeus-Merzbacher disease
In the new study, published in The American Journal of Human Genetics, researchers used stem cells in their laboratory to simultaneously model different genetic scenarios that underlie neurologic disease. They identified individual and shared defects in the cells that could inform treatment efforts.
Mar 15, 2017
Researchers make headway toward understanding Alexander disease
Using a mouse model for this disease, researchers at the University of Wisconsin-Madison have found that a protein behind the symptoms of Alexander disease, called GFAP, is broken down more rapidly in the body than researchers previously found in cell culture studies.