Niemann Pick Disease News and Research

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Is your DNA steering you towards a vegetarian diet?

Researchers using the UK Biobank identified genetic markers linked to strict vegetarianism, revealing potential connections between vegetarianism, lipid metabolism, and brain activity. The study highlighted genes, particularly those active in the brain and related to cholesterol movement, as influential in an individual's inclination towards a vegetarian lifestyle.

9 Oct 2023

Scientists reverse the effects of lysosomal storage disorders in patient cells and mice

Scientists at the Icahn School of Medicine at Mount Sinai in New York, the National Center for Advancing Translational Sciences (NCATS), and elsewhere have reversed the effects of several life-threatening inherited neurodegenerative diseases called lysosomal storage disorders (LSDs) in patient cells and mice.

9 Sep 2022

CENTOGENE teams up with Insilico Medicine to improve therapeutic targets for Niemann-Pick disease type C

A commercial-stage company focused on generating data-driven insights to diagnose, understand and treat rare diseases, and Insilico Medicine, an end-to-end Artificial Intelligence (AI) - driven drug discovery company, today announced a research and development collaboration to accelerate the discovery of novel therapeutic targets for Niemann-Pick disease type C

21 Jan 2022

New gene therapy addresses primary cellular deficit associated with limb-girdle muscular dystrophy 2B

Children's National Hospital experts developed a new pre-clinical gene therapy for a rare disorder, known as limb-girdle muscular dystrophy (LGMD) 2B, that addresses the primary cellular deficit associated with this disease.

4 Jan 2022

Repurposed ALS drug could slow gradual brain cell loss in Niemann-Pick disease type C1

Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type C1 (NPC1), a rare genetic disorder affecting children and adolescents, suggests a study in mice by scientists at the National Institutes of Health.

20 Nov 2021

Researchers identify immune protein linked to rare neurodegenerative disease

UT Southwestern researchers have identified an immune protein tied to the rare neurodegenerative condition known as Niemann-Pick disease type C.

21 Jul 2021

Study shows how two proteins provide a tunnel for bad cholesterol to enter the cells

A study has outlined how two proteins are instrumental to bringing cholesterol into cells – a finding that has implications for a range of diseases.

26 Jun 2020

New molecular mechanism involved in the regulation of cholesterol movement in cells found

Researchers from the University of Barcelona and the August Pi i Sunyer Biomedical Research Institute found a new molecular mechanism involved in the regulation of the cholesterol movement in cells, an essential process for a proper cell functioning.

2 Dec 2019

Small clinical trial shows promise for treating rare neurodegenerative disease

Results of a small clinical trial show promise for treating a rare neurodegenerative condition that typically kills those afflicted before they reach age 20.

11 Aug 2017

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, type C1 (NPC1).

26 Oct 2016

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.

6 May 2016

Simple test for measuring bile acids in biological fluids can help diagnose severe fat storage disorder

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 infancy and neurological dysfunction starting in childhood or early adult life.

5 May 2016

New method could help scientists better predict disease-causing mutations in people's genes

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 which would remain dormant.

18 Feb 2016

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, reports a research team led by Jackson Laboratory Research Scientist Lihong Zhao, Ph.D. and Professor Patsy Nishina, Ph.D.

7 Oct 2015

Vtesse reports preliminary results from VTS-270 Phase 1 trial for treatment of Niemann-Pick Disease Type C

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 C (NPC) conducted by researchers at the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development.

6 Aug 2015

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

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 molecular "lock" that the deadly Ebola virus must pick to gain entry to cells.

27 May 2015

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 Scripps Research Institute.

20 Nov 2014

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