Nonketotic Hyperglycinemia News and Research

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New Notre Dame research may lead to a therapy for Niemann-Pick Type C disease

Niemann-Pick Type C (NPC) disease is a rare, fatal neurodegenerative disease for which there is currently no cure. NPC primarily strikes children before and during adolescence and affects one in every 150,000 children. The disease causes cholesterol and other lipids to build up in the body's cells, which results in symptoms such as delayed motor development, deterioration of memory and balance, and seizures.

26 Feb 2016

Biologists discover vulnerability of brain cancer cells

Biologists at MIT and the Whitehead Institute for Biomedical Research have discovered a vulnerability of brain cancer cells that could be exploited to develop more-effective drugs against brain tumors.

9 Apr 2015

Researchers pinpoint several inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

23 Jan 2013