Niemann Pick Disease News and Research

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Cholesterol plays vital role in cell mobility and tissue invasion

University of Barcelona's researchers led by Professor Carles Enrich, from the Department of Cell Biology, Immunology and Neurosciences of the Faculty of Medicine at the University of Barcelona and CELLEX Biomedical Research Centre of IDIBAPS, have found that cholesterol plays a key role in cell mobility and tissue invasion.

21 May 2014

New dual-pronged approach for treating Niemann-Pick type C disease

By studying nerve and liver cells grown from patient-derived induced pluripotent stem cells (iPSCs), Whitehead Institute researchers have identified a potential dual-pronged approach to treating Niemann-Pick type C (NPC) disease, a rare but devastating genetic disorder.

16 May 2014

Clinical trial to evaluate cyclodextrin against Niemann-Pick disease type C1

A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced.

24 Jan 2013

Study reveals technique that allows scientists to watch lipid metabolism in live zebrafish

In mammals, most lipids are absorbed into the body via the small intestine. The complexity of the cells and fluids that inhabit this organ make it very difficult to study in a laboratory setting. New research from Carnegie's Steven Farber, James Walters and Jennifer Anderson reveals a technique that allows scientists to watch lipid metabolism in live zebrafish. This method enabled them to describe new aspects of lipid absorption that could have broad applications for human health.

29 Jun 2012

Potential new way to treat rare inherited metabolic disorders

A University of Michigan cell biologist and his colleagues have identified a potential drug that speeds up trash removal from the cell's recycling center, the lysosome.

14 Mar 2012

Scientists identify cellular protein that plays a critical role in Ebola virus infection

Research published by two teams of Army scientists and collaborators has identified a cellular protein that plays a critical role in Ebola virus infection.

25 Aug 2011

Scientists identify critical protein responsible for Ebola virus infection

In separate papers published online in Nature, two research teams report identifying a critical protein that Ebola virus exploits to cause deadly infections. The protein target is an essential element through which the virus enters living cells to cause disease.

25 Aug 2011

Researchers discover NPC1 protein as crucial for Ebola virus to enter host cells

Although outbreaks are rare, Ebola virus, the cause of Ebola hemorrhagic fever (EHF), is one of the deadliest known viruses affecting humans. According to the World Health Organization (WHO), approximately 1,850 EHF cases with more than 1,200 deaths have been documented since the virus was identified in 1976.

25 Aug 2011

PCA-Rx represents next generation of chelation technology for ASD patients

According to the Center for Disease Control, autism has risen to an epidemic rate of 1 in 100 in the U.S., up from 1 in 150 in 2007. While controversy looms regarding its cause, many parents of autistic children believe a correlation exists with toxin accumulation. To give autism spectrum disorder sufferers a natural alternative to chelation therapy, Maxam Nutraceutics has introduced PCA-Rx.

28 May 2010

Genetic Disorder Tracker introduced by Guidepoint Global

Guidepoint Global, LLC, a leading primary research firm, today announced the launch of their Genetic Disorder Tracker, a monthly longitudinal data release that captures commercial trends, on a worldwide basis, associated with the treatment of eight rare genetic disorders: Gaucher's disease, Fabry's disease, PKU, MPS I (Hurler Syndrome), MPS II (Hunter Syndrome), MPS VI (Maroteaux-Lamy Syndrome), Niemann-Pick disease and Pompe disease.

25 Feb 2010

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

Gene therapy may help correct molecular flaws that cause brain disease

Neuroscientists have forged an unlikely molecular union as part of their fight against diseases of the brain and nervous system.

9 Jan 2010

Research to explore diagnosis and treatment of rare diseases

The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.

7 Oct 2009

Identification of cholesterol regulating genes by targeted RNAi-screening

Scientists at the European Molecular Biology Laboratory (EMBL) and the University of Heidelberg, Germany, have come a step closer to understanding how cholesterol levels are regulated. In a study published today in the journal Cell Metabolism, the researchers identified 20 genes that are involved in this process. Besides giving scientists a better idea of where to look to uncover the mechanisms that ensure cholesterol balance is maintained, the discovery could lead to new treatments for cholesterol-related diseases.

7 Jul 2009

New information on molecular biology of KRas protein

KRas is one of the usual suspects in cancer. It is a protein that is mutated in 30% of human tumors and has been implicated in the regulation of many cell signalling pathways.

20 Apr 2009

Researchers identify compound that frees trapped cholesterol

Researchers at UT Southwestern Medical Center have identified in mice a compound that liberates cholesterol that has inappropriately accumulated to excessive levels inside cells.

27 Jan 2009

Scientists discover a compound that gets rid of excess cholesterol

New research by scientists in the United States carried out in mice has revealed a compound that releases excessive cholesterol accumulated inside cells.

27 Jan 2009

First genetic map of obesity

The first genetic map of obesity has been constructed using DNA microarray technology.

21 Jan 2009

How the cholesterol-lowering drug ezetimibe (Zetia) works

A new study in the June issue of Cell Metabolism, a Cell Press publication, sheds light on the action of the drug ezetimibe (trade name Zetia), which is used to treat high cholesterol. Ezetimibe is unique among cholesterol-lowering drugs in that it works by cutting the amount of cholesterol taken in from the diet rather than by blocking cholesterol's manufacture in the body.

3 Jun 2008

Chemical chaperone could open door to treatment of neurological disorder

An unexpected finding turned out to be a clue leading researchers at Washington University School of Medicine in St. Louis to propose a new treatment approach for Niemann-Pick disease, a rare, deadly neurodegenerative disorder.

7 Feb 2008