Mutation News and Research

RSS

New genetic mutation linked to highly invasive Streptococcus pyogenes infections

A group of researchers led by The University of Osaka have identified a novel genetic mutation in Streptococcus pyogenes, a common bacterium which causes strep throat, significantly associated with severe invasive infections.

30 Jul 2025

New RNA therapy reverses symptoms of progeria in mouse models

Children who develop deep wrinkles, stunted growth, and rapidly aging bones and blood vessels as early as 1 to 2 years of age may be suffering from Hutchinson-Gilford Progeria Syndrome (HGPS), a rare and incurable genetic disorder that affects approximately one in eight million people.

29 Jul 2025

New model predicts mRNA protein production, accelerating drug and vaccine discovery

A new artificial intelligence model can improve the process of drug and vaccine discovery by predicting how efficiently specific mRNA sequences will produce proteins, both generally and in various cell types. The new advance, developed through an academic-industrial partnership between The University of Texas at Austin and Sanofi, helps predict how much protein cells will produce, which can minimize the need for trial-and-error experimentation, accelerating the next generation of mRNA therapeutics.

26 Jul 2025

Gene-edited mosquitoes slash malaria spread 93% using self-propagating shield

Scientists engineered a naturally occurring genetic variant (Q224) in Anopheles stephensi mosquitoes, making them highly resistant to malaria parasites without affecting fitness. A novel gene-drive system rapidly spread this protective trait through lab mosquito populations, offering a potential breakthrough for malaria control.

24 Jul 2025

Standard DNA tests miss most cases of NUT carcinoma

The diagnosis of a suspected lung, head, and neck cancer called NUT carcinoma should include additional testing capable of detecting gene fusions that are definitive markers of the disease, according to a study by Dana-Farber Cancer Institute investigators.

24 Jul 2025

Radiation primes the immune system to attack lung tumors resistant to immunotherapy

By sparking the immune system into action, radiation therapy makes certain tumors that resist immunotherapy susceptible to the treatment, leading to positive outcomes for patients, according to new research by investigators at the Johns Hopkins Kimmel Cancer Center Bloomberg~Kimmel Institute for Cancer Immunotherapy and the Netherlands Cancer Institute.

22 Jul 2025

AI and wastewater surveillance unite to detect emerging viruses

Wastewater surveillance became a popular choice among public health officials looking to track rapid virus mutations and spread patterns during the COVID-19 pandemic.

21 Jul 2025

Immune cells navigate tissues with coordinated cytoskeletal forces

Immune responses rely on the efficient movement of immune cells within the complex and geometrically unpredictable three-dimensional tissues that make up our bodies.

21 Jul 2025

Blocking a single gene disrupts vitamin D metabolism and cancer pathways in new cell study

Researchers identified SDR42E1 as a key regulator of vitamin D absorption and sterol metabolism in colorectal cancer cells. Disruption of this enzyme altered cancer-related pathways and cell viability, highlighting its potential as a therapeutic target.

21 Jul 2025

Prime editing reverses symptoms of severe childhood neurological disease

Scientists use a precise form of gene editing called prime editing to correct the most common genetic mutations that cause alternating hemiplegia of childhood, a rare and severe neurological disorder that begins in infancy.

21 Jul 2025

Gene editing in the brain offers hope for ultra-rare neurological disease

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with neurological diseases.

21 Jul 2025

Combination of dysbiosis, OTUD3 gene mutations, and STING signaling linked to ulcerative colitis severity

Ulcerative colitis (UC) causes misery for millions worldwide. It affects the large intestine, causing pain, cramping, and frequent bowel movements with bloody diarrhea.

18 Jul 2025

Rare coexistence of APC and KRAS mutations observed in patient with FAP and endometrial cancer

Researchers have discovered an unusual case where two well-known cancer-related mutations-APC and KRAS-coexisted in a woman with familial adenomatous polyposis (FAP) and a history of endometrial cancer.

18 Jul 2025

Study identifies SDR42E1's role in vitamin D pathway

Vitamin D is not only an essential nutrient, but also the precursor of the hormone calcitriol, indispensable for health: it regulates the uptake of phosphate and calcium necessary for bones by the intestines, as well as cell growth and the proper function of muscles, nerve cells, and the immune system.

18 Jul 2025

New data confirms efficacy of mitochondrial donation in preventing disease

The UK's pioneering licensed IVF technique to reduce the risk of mitochondrial diseases carried out in Newcastle has seen eight babies born, published research shows.

17 Jul 2025

Niigata University team reports novel treatment for IDH2-mutant brainstem glioma

A group led by the Department of Neurosurgery at the Brain Research Institute, Niigata University, has successfully treated a patient with a brainstem glioma harboring a rare IDH2 mutation.

17 Jul 2025

New research offers hope to preserve vision in autosomal dominant optic atrophy

Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or focusing, and sometimes only as a failed vision test.

16 Jul 2025

TTUHSC researcher focuses on how brain endothelial cells handle stressors of neuroinflammation

Each year in the U.S., approximately 2.5 million people suffer traumatic brain injuries (TBIs). About 50,000 of these injuries will result in death, and more than 80,000 will lead to permanent disability.

16 Jul 2025

Staph bacterium possesses a surprising level of metabolic redundancy, study reveals

In the ongoing battle against antibiotic-resistant bacteria, MSU researchers have made a discovery that could reshape how we target deadly pathogens like staph infections.

16 Jul 2025

FAU neuroscientist receives NIH grant to study amphetamine effects on the brain

Lucia Carvelli, Ph.D., associate professor of neuroscience at Florida Atlantic University's Harriet L. Wilkes Honors College and a member of the FAU Stiles-Nicholson Brain Institute, has received a $571,675 grant from the National Institutes of Health to advance critical research into how amphetamines affect brain function.

15 Jul 2025

Mutation News and Research

New genetic mutation linked to highly invasive Streptococcus pyogenes infections

New RNA therapy reverses symptoms of progeria in mouse models

New model predicts mRNA protein production, accelerating drug and vaccine discovery

Gene-edited mosquitoes slash malaria spread 93% using self-propagating shield

Standard DNA tests miss most cases of NUT carcinoma

Radiation primes the immune system to attack lung tumors resistant to immunotherapy

AI and wastewater surveillance unite to detect emerging viruses

Immune cells navigate tissues with coordinated cytoskeletal forces

Blocking a single gene disrupts vitamin D metabolism and cancer pathways in new cell study

Prime editing reverses symptoms of severe childhood neurological disease

Gene editing in the brain offers hope for ultra-rare neurological disease

Combination of dysbiosis, OTUD3 gene mutations, and STING signaling linked to ulcerative colitis severity

Rare coexistence of APC and KRAS mutations observed in patient with FAP and endometrial cancer

Study identifies SDR42E1's role in vitamin D pathway

New data confirms efficacy of mitochondrial donation in preventing disease

Niigata University team reports novel treatment for IDH2-mutant brainstem glioma

New research offers hope to preserve vision in autosomal dominant optic atrophy

TTUHSC researcher focuses on how brain endothelial cells handle stressors of neuroinflammation

Staph bacterium possesses a surprising level of metabolic redundancy, study reveals

FAU neuroscientist receives NIH grant to study amphetamine effects on the brain

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

Latest News