All articles tagged with #genetic mutation
Originally Published 21 days ago — by ABC News
A new drug, tofersen, shows promise in slowing or reversing symptoms of a rare form of ALS by targeting the SOD1 mutation, with some patients experiencing significant improvements and reduced risk of death, marking a potential breakthrough in ALS treatment.
Originally Published 22 days ago — by ScienceAlert
Researchers have uncovered how a rare genetic mutation in the GPX4 gene causes neurodegeneration through ferroptosis, a form of cell death linked to oxidative damage, providing new insights into diseases like Alzheimer's and childhood dementia.
Originally Published 1 month ago — by WLFI News 18
A sperm donor with a rare cancer-causing gene mutation fathered at least 197 children across Europe, some of whom have already died from cancer, highlighting the need for stricter genetic screening and regulation of sperm donors.
Originally Published 2 months ago — by SciTechDaily
Scientists discovered that mutations in the CPD gene cause a rare inherited form of hearing loss by disrupting arginine and nitric oxide signaling in inner ear cells. They found that existing drugs like Viagra and arginine supplements could potentially reverse this damage, offering a promising treatment avenue for this genetic condition.
Originally Published 3 months ago — by ScienceDaily
A Swedish-led clinical trial found that low-dose aspirin significantly reduces the risk of colon and rectal cancer recurrence in patients with a specific genetic mutation, highlighting its potential as an affordable, personalized treatment option for colorectal cancer.
Originally Published 3 months ago — by SciTechDaily
A Swedish clinical trial found that low-dose aspirin can halve the recurrence risk of colon and rectal cancer in patients with a specific genetic mutation, offering a cheap and accessible treatment option that could influence global guidelines.
Originally Published 3 months ago — by upi.com
A clinical trial by the Karolinska Institute found that daily aspirin reduces the risk of colon cancer recurrence by over 50% in patients with a specific genetic mutation, highlighting its potential as a cost-effective, personalized treatment option.
Originally Published 4 months ago — by Phys.org
A new study suggests that a single genetic mutation in the GSDMC gene played a key role in transforming wild horses into rideable domesticated animals around 4,200 years ago, by enhancing their body structure and locomotion capabilities.
Originally Published 4 months ago — by Bored Panda
The article shares fascinating scientific facts, including Ozzy Osbourne's unique genetics that influenced his lifespan and addiction, groundbreaking cancer treatments using bee venom and psilocybin, innovative medical procedures, and remarkable animal behaviors, highlighting the incredible diversity and potential of scientific discovery.
Originally Published 4 months ago — by Archaeology News Online Magazine
A minor genetic change in the ADSL enzyme may have contributed to the cognitive and behavioral advantages of modern humans over Neanderthals, potentially influencing our species' survival and evolution.
Originally Published 4 months ago — by ScienceAlert
Researchers have replicated a rare genetic mutation that grants near-universal virus immunity in lab animals using mRNA technology, offering a potential short-term protective therapy against various viruses, including COVID-19, though challenges remain in delivery and societal acceptance.
Originally Published 5 months ago — by AOL.com
Erin Kelly, a 29-year-old Australian single mother, has been diagnosed with a rare genetic form of early-onset Alzheimer's disease, inheriting the PSEN1 mutation from her mother. She is experiencing early symptoms and is seeking treatment options like Leqembi to slow progression, while also trying to protect her young daughter from the diagnosis. Her family has started a fundraiser to help afford treatment not covered by Australian public health services.
Originally Published 6 months ago — by AOL.com
Stanford researchers discovered that inhibiting the overactive enzyme LRRK2 in mice with a genetic mutation related to Parkinson's disease can restore neuron function, suggesting a promising new treatment approach that could benefit multiple Parkinson's patient groups, though further research in humans is needed.
Originally Published 6 months ago — by SciTechDaily
Scientists have observed a rare case of reverse evolution in Galápagos tomatoes, where they are reverting to ancient genetic traits that produce toxic alkaloids, possibly as an adaptation to their environment. This phenomenon involves just a few genetic mutations affecting enzyme structure, leading to the reactivation of ancestral chemical defenses, and suggests that evolution can sometimes move backward under certain conditions.
Originally Published 7 months ago — by Live Science
Werner syndrome is a rare genetic disorder caused by mutations in the WRN gene, leading to defective DNA repair and premature aging symptoms such as hair loss, skin changes, and increased cancer risk, with no current cure but symptom management options available.