Medical research

Researchers solve mystery surrounding a form of Batten disease

A team led by researchers at Baylor College of Medicine has uncovered an unexpected mechanism that can explain a form of Batten disease called neuronal ceroid lipofuscinosis 8. The findings published in the journal Nature ...

Immunology

Nature study suggests new therapy 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.

Parkinson's & Movement disorders

Linking Gaucher and Parkinson's Diseases

Gaucher (pronounced "go-shay") disease affects one in 450 Jewish people of Ashkenazi (eastern European) descent (one in 10 is a carrier), yet only 1 in 40,000 people in the general population. Of course mutations can happen ...

Genetics

Batten disease may benefit from gene therapy

In a study of dogs, scientists showed that a new way to deliver replacement genes may be effective at slowing the development of childhood Batten disease, a rare and fatal neurological disorder. The key may be to inject viruses ...

Medical research

First-in-man clinical trial for Hunter syndrome underway

A first-in-man clinical trial, testing a newly developed drug for a rare genetic condition called mucopolysaccharidosis type II (MPS II) or Hunter syndrome, is underway at Emory University.

Cardiology

Correction of cardiovascular symptoms of MPS I in animal model

REGENXBIO Inc. today announced that gene transfer mediated by REGENXBIO's NAV AAV8 vectors resulted in sustained serum α-L-iduronidase (IDUA) expression, as well as correction of systemic features of MPS I, or Hurler syndrome, ...

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