Childhood Degenerative & Metabolic Disorders News

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.
Jul 06, 2016
Metformin as a potential treatment for maple syrup urine disease
Publishing in Scientific Reports, researchers show that the widely-used diabetes drug metformin reduces the toxic acid levels associated with maple syrup urine disease in both skin cells derived from maple syrup urine disease patients and in mice. The discovery offers the possibility of a new treatment.
Jun 21, 2016
Highly efficient agent against Wilson disease
In the Journal of Clinical Investigation, scientists describe a small peptide that very efficiently binds excess copper from liver cells. This molecule comes from a bacterium's bag of tricks and could be suitable for treating Wilson disease. In an experimental model it has already proven superior to conventional medicines.
Apr 20, 2016
Stem-cell model for Smith-Lemli-Opitz syndrome
Studies performed by a Sanford Research scientist uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome by modeling this disease using induced pluripotent stem cells. It was discovered that 7DHC accumulation, not cholesterol deficiency, was a hallmark of these cells.
Apr 04, 2016
New syndrome named, causes a rare intellectual disability
Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability, hypotonia, and seizures. Drawing on knowledge of the causative gene mutation - TBCK, the scientists' cell studies suggest that an amino acid supplement - leucine - may offer a targeted treatment for children with this condition.