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Genetic Defects

All articles tagged with #genetic defects

science1 year ago

CRISPR Gene Editing: Unintended Risks and Side Effects Unveiled

Researchers at the University of Zurich have discovered that using CRISPR to correct genetic defects in chronic granulomatosis can inadvertently cause new genetic issues. While they successfully inserted missing DNA letters in immune cells, the process sometimes led to missing or rearranged chromosome sections, potentially causing severe medical consequences like blood cancer. Despite testing alternative methods, the team couldn't fully eliminate these side effects.

via SWI swissinfo.ch in English|
#chronic-granulomatosis#crispr#genetic-defects
health2 years ago

"Shattering the Myth: Revealing the Real Frequency of 'Rare' Diseases"

Researchers from the University of Basel and University Hospital Basel have found that carriers of single-allele genetic defects, previously considered asymptomatic, can actually suffer from life-threatening diseases, suggesting that rare hereditary diseases may be more prevalent than previously assumed. Their study focused on a recessive hereditary immunological disorder and demonstrated that single-allele defects can impair the immune system, potentially leading to late-onset adult diseases and unusual symptoms. The findings challenge the previous assumption that carriers of single faulty genes are typically asymptomatic, highlighting the need for further research and consideration of these cases in diagnostics.

via SciTechDaily|
#genetic-defects#health#immune-system
health2 years ago

New Genetic Insights into Neurodegeneration and Dementia Risk.

Researchers have identified rare genetic defects in the genomes of some people with non-inherited, or sporadic, ALS/motor neuron disease (MND) and frontotemporal dementia (FTD). These defects, known as short tandem repeat expansions, are the cause of more than 20 neurodegenerative diseases including spinocerebellar ataxias and myotonic dystrophy. The study suggests a shared risk factor and mechanism that cause nerves to die in different neurodegenerative diseases, which may lead to shared therapeutic strategies in the future.

via Neuroscience News|
#als#ftd#genetic-defects