Gangliosidosis News and Research

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ChatGPT: A diagnostic sidekick for doctors? Caution advised for non-professionals

ChatGPT: A diagnostic sidekick for doctors? Caution advised for non-professionals

Research evaluates the diagnostic accuracy of ChatGPT, an AI language model, in providing medical advice online. It concludes that ChatGPT can be a useful tool for assisting human doctors in diagnosing difficult cases, but non-professionals should use it with caution.

27 Apr 2023

Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis

Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis

Since its clinical description in 1881, Tay-Sachs disease has had almost totemic significance as a cruel and relentless genetic condition that destroys the developing brain of babies and young children.

28 Apr 2018

New gene therapy shows promising results for treating neurodegenerative disorders

New gene therapy shows promising results for treating neurodegenerative disorders

A new gene therapy approach designed to replace the enzyme that is deficient in patients with the inherited neurodegenerative disorders Tay-Sachs and Sandhoff diseases successfully delivered the therapeutic gene to the brains of treated mice, restored enzyme function, and extended survival by about 2.5-fold.

28 Jul 2016

Researchers devise new genetic technique for IVF embryos

Researchers devise new genetic technique for IVF embryos

Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility.

24 May 2011

New genetic testing technology for IVG embryos

New genetic testing technology for IVG embryos

Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility.

23 May 2011

Lipid that accumulates in brain cells drives cell death, says research

Lipid that accumulates in brain cells drives cell death, says research

The lipid that accumulates in brain cells of individuals with an inherited enzyme disorder also drives the cell death that is a hallmark of the disease, according to new research led by St. Jude Children's Research Hospital investigators.

13 Nov 2009

Researchers successfully treat laboratory model of a lysosomal storage disease called GM1

Researchers successfully treat laboratory model of a lysosomal storage disease called GM1

Physicians might one day be able to treat a disease that destroys brain cells in children using genetically modified cells to transport a "drug" to the site of the dying neural cells (cells that transmit impulses).

27 Jun 2005

Disruption of protein folding causes neurodegeneration, mental retardation

Disruption of protein folding causes neurodegeneration, mental retardation

Excess accumulation in brain cells of a fat molecule called GM1-ganglioside (GM1) disrupts the folding of newly assembled proteins into their proper shapes, triggering nerve degeneration and mental retardation in children.

10 Sep 2004

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