Gaucher's Disease News and Research

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Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain.

Study reveals pathogenic mechanism of rare pediatric neurodegenerative disorder

A recent study published in Nature Metabolism has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome.

31 Aug 2023

New gene variant linked to Parkinson's disease found in people of African ancestry

A gene variant found almost exclusively in the genomes of people of African ancestry increases the risk of developing Parkinson's disease, according to an international study of nearly 198,000 participants with this genetic background.

23 Aug 2023

Study reveals a new molecular perspective to the cause of Gaucher's disease

A study by researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and collaborating institutions is the first to associate neuronal activity to the levels of sphingolipids, a type of fat, in brain cells.

13 Jul 2022

Study finds disease-causing mutation in French-Canadians

A team of Canadian scientists, including researchers at the Montreal Neurological Institute and Hospital has discovered the first French-Canadian founder mutation gene linked to synucleinopathies, a group of neurodegenerative diseases that includes Parkinson's disease, dementia with Lewy-Bodies and multiple system atrophy

1 Oct 2018

Opportunities and risks of direct-to-consumer genetic health risk tests

Accurate genetic testing stands to transform modern medicine by offering effective, personalized treatment.

13 Apr 2017

FDA authorizes marketing of first direct-to-consumer GHR tests for certain diseases

The U.S. Food and Drug Administration today allowed marketing of 23andMe Personal Genome Service Genetic Health Risk (GHR) tests for 10 diseases or conditions.

6 Apr 2017

Scientists propose potential new treatment for Gaucher disease

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

23 Feb 2017

URMC researchers identify potential new means of treating severe genetic diseases in children

University of Rochester Medical Center researchers believe they have identified a potential new means of treating some of the most severe genetic diseases of childhood, according to a study in PLOS Biology.

16 Dec 2016

New study finds genetic link between Parkinson's disease and cognitive decline

Although the hallmark symptoms of Parkinson's disease (PD) - such as involuntary shaking, slowness of movement and muscle rigidity - are related to movement, recent evidence has suggested that memory impairment plays an outsized role in diminished quality of life and the burden placed on caregivers.

1 Dec 2016

Pathology of Krabbe's disease may provide insights on late-onset neurodegenerative diseases

A recent article suggests that an enzyme deficiency seen in the lysosomal storage disorder Krabbe's disease may point to new and contributing mechanisms underlying certain late-onset neurodegenerative diseases such as Parkinson's disease.

21 Oct 2016

Enzyme deficiency in Krabbe's disease may point to new mechanisms underlying Parkinson's disease

A new article suggests that an enzyme deficiency seen in the lysosomal storage disorder Krabbe's disease may point to new mechanisms underlying certain late-onset neurodegenerative diseases such as Parkinson's disease.

19 Sep 2016

Yale Cancer Center researchers identify cause of myeloma

Yale Cancer Center researchers have identified what causes a third of all myelomas, a type of cancer affecting plasma cells. The findings, published in the Feb. 11 issue of the New England Journal of Medicine, could fundamentally change the way this cancer and others are treated.

11 Feb 2016

FDA clears Sangamo BioSciences' SB-318 IND application for treatment of MPS I

Sangamo BioSciences, Inc., the leader in therapeutic genome editing, announced that the U.S. Food and Drug Administration has cleared the Company's Investigational New Drug (IND) application for SB-318, a single treatment strategy intended to provide a life-long therapy for Mucopolysaccharidosis Type I (MPS I).

8 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

Robert G. Miller awarded $1.5 million grant to help fund Neuraltus' Phase 2 clinical study of NP001 for ALS

Neuraltus Pharmaceuticals, Inc., a privately-held biopharmaceutical company focused on the development of groundbreaking drugs to treat neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), announced today that Robert G. Miller, M.D., Director of the Forbes Norris MDA/ALS Research Center at Sutter Health's California Pacific Medical Center in San Francisco, has been awarded a grant from The ALS Association for $1.5 million to help fund a Phase 2 clinical study of the company's investigational therapy for ALS, NP001.

1 Jul 2015

CORD calls upon governments, others to join forces to make Canada's Rare Disease Strategy a reality

Today, on Parliament Hill, the Canadian Organization for Rare Disorders released Canada's Rare Disease Strategy and called upon the federal, provincial and territorial governments along researchers, healthcare providers, educators, employers, and the patient community to join forces to make the Strategy a reality.

26 May 2015

Sangamo BioSciences to present data on ZFP Therapeutic platform at ASGCT meeting

Sangamo BioSciences, Inc. announced that data from clinical, preclinical and research-stage programs focused on the development of ZFP Therapeutics will be presented at the 18th Annual Meeting of the American Society of Gene and Cell Therapy

29 Apr 2015

Eliglustat drug improves liver, spleen size and hemoglobin level in adults with Gaucher disease type 1

Among previously untreated adults with Gaucher disease type 1, a genetic disease in which there is improper metabolism due to a defect in an enzyme, treatment with the drug eliglustat resulted in significant improvements in liver and spleen size hemoglobin level, and platelet count, according to a study in the February 17 issue of JAMA.

18 Feb 2015

AT2101 drug, evaluated for Gaucher disease, slows progression of Parkinson's disease in mice

A new study from UCLA found that a drug being evaluated to treat an entirely different disorder helped slow the progression of Parkinson's disease in mice.

9 Oct 2014

Gaucher disease: an interview with Dr Clement Olivier, Shire

Gaucher disease is the most common condition within a family of rare diseases known as the lysosomal storage diseases. The disease causes lipids to accumulate in cells, which is why it is referred to as a storage disorder. The accumulation occurs mainly in the spleen, liver, and bones, but may also occur in the lungs, heart, and central nervous system.

30 Sep 2014