Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them.
Gene editing to correct genetic faults and removing the risk of hereditary diseases may soon become reality. Researchers have come up with a new gene editing technology that could help patients with sickle cell anaemia and up 89 percent of other genetic defects.
The federal agency that oversees a large network of research centers seeking cures for hundreds of rare, disabling and often fatal diseases has named Cincinnati Children's as its new data management and coordinating center.
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.
Babies with the rare, deadly genetic disorder Sandhoff disease begin to miss developmental milestones just months after birth. Lacking muscle tone, they never learn to sit up, develop heads too large to lift and eventually suffer uncontrollable seizures. There is no cure.
Researchers at University of Massachusetts Medical School and Auburn University College of Veterinary Medicine are nearing human clinical trials on a genetic therapy for two rare neurological diseases that are fatal to children.
News Feed: Canavan Disease
Latest Canavan Disease (Leukodystrophies) News and Research
Scientists have used human stem cells to dramatically improve the condition of mice with a neurological condition similar to a set of diseases in children that are invariably fatal, according to an article in the June issue of the journal Cell Stem Cell.
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As epidemiologists try to stay ahead of the spread of new coronavirus COVID-19, vaccine developers, like Sanofi and Johnson & Johnson, are focusing on the “spike” proteins that festoon viral surfaces. Following clues in genomes is
For Valentine’s Day, I offer a fly’s eye view of my PhD research on the mutation Antennapedia, which replaces fruit flies’ antennae with legs. “The Making of a Mutant” initially appeared in this millennium at
I’ve been thinking about invertebrates often lately, and so was delighted to learn that the genome of the giant squid has been sequenced. I’ll never tire of reading new genome papers. One of the largest
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.
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.
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.
