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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....

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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...

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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...

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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),...

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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...

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Scientists identify cellular protein that plays a critical role in Ebola...

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

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PerkinElmer Genetics launches new Lysosomal Storage Disorder panel

PerkinElmer, Inc., a global leader focused on improving the health and safety of people and the environment, announced today that its newborn screening laboratory service, PerkinElmer Genetics, has...

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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.

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Study reveals technique that allows scientists to watch lipid metabolism in...

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...

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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.

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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...

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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...

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TSRI study examines body’s own response against chronic protein misfolding

“Protein misfolding” diseases such as cystic fibrosis and Alzheimer’s may be seriously exacerbated by the body’s own response against that misfolding, according to a new study led by scientists at The...

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Scientists identify molecular 'lock' that enables Ebola virus to gain entry...

An international team including scientists from Albert Einstein College of Medicine of Yeshiva University and the U.S. Army Medical Research Institute of Infectious Diseases has identified the...

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Vtesse reports preliminary results from VTS-270 Phase 1 trial for treatment...

Vtesse, Inc. announced preliminary results today from an open-label Phase 1 clinical trial with VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for treatment of Niemann-Pick Disease Type...

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Mutation that increases sphingolipid levels can lead to neurodegeneration

A mutation that increases the level of a special class of sphingolipids--molecules important to cell structure and signaling--can lead to neurodegeneration due to problems with neuronal membranes,...

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New method could help scientists better predict disease-causing mutations in...

Two researchers at the University of Tennessee, Knoxville, have developed a method that could help clinicians and scientists better predict which mutations in people's genes could cause a disease and...

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Simple test for measuring bile acids in biological fluids can help diagnose...

Researchers have developed a quick and simple method for measuring bile acids in biological fluids that can be used to rapidly diagnosis a severe fat storage disorder that can lead to liver disease in...

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Newborn screen for Niemann-Pick disease type C ready for piloting

Researchers have developed a bile acid-based test that they believe could help screen for Niemann-Pick disease type C in newborns.

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Gene therapy may be effective method for treating Niemann-Pick disease, type C1

For the first time, National Institutes of Health researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease,...

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