Gaucher Disease News and Research

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Researchers provide a framework for unifying and categorizing neurodegenerative diseases based on eight hallmarks

Researchers presented eight hallmarks of neurodegenerative diseases (NDDs), their in vivo biomarkers, and interactions to help categorize NDDs and specify patients within a specific NDD.

21 Feb 2023

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

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

Length of the lipid chains predicts a person's risk for Parkinson’s disease

Whether or not someone develops Parkinson's disease may be a game of nanometers.

7 Dec 2021

Advances in plant-made vaccines revive interest in plant-produced pharmaceuticals and edible drugs

Recent progress in developing and testing plant-made vaccines has revived interest in plant-produced pharmaceuticals, including edible drugs, for human use. Advances in technology and manufacturing could boost the uptake of therapeutics made in this way, say Hugues Fausther-Bovendo and Gary Kobinger in this Perspective.

13 Aug 2021

Study suggests targeted cancer therapy could help with rare neurologic disease

A targeted therapy currently studied for treatment of certain cancers may be beneficial in treating other neurologic diseases.

6 Apr 2020

Study highlights potential of fetal gene therapy to prevent lethal neurodegenerative disease

A fatal neurodegenerative condition known as Gaucher disease can be prevented in mice following fetal gene therapy, finds a new study led by UCL, the KK Women's and Children's Hospital and National University Health System in Singapore.

16 Jul 2018

Study points at lysosomal storage disorder genes as potential key contributors to Parkinson's

An international study has shed new light on the genetic factors associated with Parkinson's disease, pointing at a group of lysosomal storage disorder genes as potential major contributors to the onset and progression of this common neurodegenerative disorder. The study appears in the journal Brain.

14 Nov 2017

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

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

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