Cholesterol-regulating Genes Identified Jul 9, 2009
This discovery could help fight not only heart disease, but also other conditions, as one of the genes identified appears to influence the behaviour of NPC1, a protein involved in the neuro-degenerative Niemann-Pick disease. The research was conducted under the Molecular Medicine Partnership Unit (MMPU), a collaboration between EMBL and Heidelberg University. (Science Daily)
Missouri family seeks more newborn testing May 12, 2009
The Cunninghams' hometown representative, Democrat Tom Todd, introduced a bill requiring Missouri to test for Krabbe and four other conditions known as lysosomal storage diseases: Pompe, Gaucher, Fabry and Niemann-Pick disease by July 1, 2010. Lysosomal storage diseases are a group of roughly 40 different diseases, each characterized by a specific enzyme deficiency. (North County Times)
Missouri votes to add 5 diseases to newborn screenings May 11, 2009
Cate Walsh Vockley, coordinator of education, referral and advocacy for the National Niemann-Pick Foundation, said the advocacy group has sought to have Niemann-Pick disease included on a federal list for newborn screenings. She said one hangup has been insufficient data, and that state lysosomal disorder screenings would help. (Jefferson City News Tribune, MO)
5-Year-Olds Suffer With 'Alzheimer's' Illness Apr 16, 2009
Most patients with NP-C don't live past their teens, according to the National Niemann-Pick Disease Foundation. The girls' parents, Hugh and Chris Hempel, said they're optimistic about the use of cyclodextrin an additive in cholesterol-free foods that studies show also might help combat the HIV virus. (Fox News)
A Mother's Journey: Saving Her Dying Twins Apr 7, 2009
Twins Addison and Cassidy Hempel are similar to their contemporaries in many ways but Like a pediatric version of Alzheimer's disease, Niemann-Pick Disease Type C (NPC), from which the girls suffer, causes patients to slowly lose their motor skills and then their minds ... Addison and Cassidy, now 5, had called Niemann-Pick Disease Type C. Their shared would lead both girls into a mental and physical decline, and near certain early death. (ABC News)
