Mutation News and Research

RSS

New assay detects epigenetic changes caused by carcinogenic chemicals

Chemicals used as food preservatives, flavoring agents, dyes, pesticides, cosmetics, cleaners, and other industrial materials are being increasingly recognized as a health hazard.

10 Apr 2025

Researchers uncover a new genetic cause of neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

10 Apr 2025

New quinoline-based antiviral shows strong promise against SARS-CoV-2

Researchers develop quinoline-based drug with inhibitory activity against the SARS-CoV-2 papain-like protease (PLpro).

10 Apr 2025

Genetic breakthrough in psychiatry using long-read genomic sequencing

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

9 Apr 2025

New STITCHR tool offers a promising step forward for gene therapy

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations.

9 Apr 2025

New molecular target identified for pancreatic cancer treatment

Researchers at City of Hope®, one of the largest and most advanced cancer research and treatment organizations in the U.S. with its National Medical Center named top 5 in the nation for cancer by U.S. News & World Report, have identified a new molecular target for treating pancreatic cancer, reports a Gastroenterology study published today.

8 Apr 2025

Faulty gene linked to increased risk of punctured lung in thousands

As many as one in 3,000 people could be carrying a faulty gene that significantly increases their risk of a punctured lung, according to new estimates from Cambridge researchers. Previous estimates had put this risk closer to one in 200,000 people.

7 Apr 2025

Pancreatic cells show epigenetic marks before cancerous transformation

Johns Hopkins Medicine scientists say they have found a pattern of so-called epigenetic "marks" in a transition state between normal and pancreatic cancer cells in mice, and that the normal cells may keep at least a temporary "memory" of those cancer-linked marks.

4 Apr 2025

Small molecular shifts can drastically alter encephalitis virus behavior

New research shows how small shifts in the molecular makeup of a virus can profoundly alter its fate. These shifts could turn a deadly pathogen into a harmless bug or supercharge a relatively benign virus, influencing its ability to infect humans and cause dangerous outbreaks.

4 Apr 2025

Updated screening protocols could improve early diagnosis of cystic fibrosis

All states should adopt updated screening protocols so more newborns with cystic fibrosis can be diagnosed in the first weeks of life, when interventions can have the greatest benefit, according to the Cystic Fibrosis Foundation guidelines published April 2 in the International Journal of Neonatal Screening.

3 Apr 2025

Breakthrough research reveals gut-eye connection in vision loss

Inherited retinal degeneration (IRD) encompasses various disorders characterized by progressive loss of retinal photoreceptor cells, ultimately leading to vision loss and blindness.

2 Apr 2025

Scientists make breakthrough in understanding the causes of spina bifida

Scientists at Rady Children's Institute for Genomic Medicine, and the Department of Neurosciences and Pediatrics at the University of California, San Diego, have made a significant breakthrough in understanding the causes of spina bifida, a serious birth defect affecting thousands of newborns each year.

1 Apr 2025

Novel ARPC1B mutation identified in a patient with recurrent eosinophilia

Immunodeficiency disorders linked to cytoskeleton defects are rare and complex, often presenting with diverse clinical features.

1 Apr 2025

New AI method could predict emerging SARS-CoV-2 variants

It's been five years since COVID-19 was declared a global pandemic. As SARS-CoV-2 shifts to endemic status, questions about its future evolution remain.

27 Mar 2025

Transforming genetic deafness treatment with base editing

Congenital hearing loss refers to impaired auditory function that occurs due to genetic causes. GJB2 is the gene responsible for approximately half of all cases of hereditary hearing loss.

27 Mar 2025

Study identifies PDGFRA as a potential target for pediatric high-grade gliomas

Pediatric high-grade gliomas, particularly H3K27M diffuse midline gliomas (DMG), are aggressive malignant brain tumors with a poor prognosis.

26 Mar 2025

City of Hope researchers uncover the two-step process of tumor formation

Researchers at City of Hope, one of the largest and most advanced cancer research and treatment organizations in the U.S. with its National Medical Center named top 5 in the nation for cancer by U.S. News & World Report, have found that cell mutations are necessary but not always sufficient for tumors to form.

26 Mar 2025

Scientists develop universal vaccine targeting multiple coronaviruses

Sugar coatings aren't only for candies; they also help viruses, like the ones that cause COVID-19, hide from their hosts' immune system.

25 Mar 2025

New drug combination shows promise in treating melanoma brain metastasis

A federally funded research team led by Sheri Holmen, PhD, investigator at Huntsman Cancer Institute and professor in the Department of Surgery at the University of Utah (the U), is testing a new combination drug therapy that could both treat and prevent melanoma metastasis, or spreading from its original site, to the brain.

21 Mar 2025

New discovery shows piRNA's adaptive role in silencing jumping genes

Adverse genetic mutations can cause harm and are due to various circumstances. "Jumping genes" are one cause of mutations, but cells try and combat them with a specialized RNA called piRNA.

20 Mar 2025