Researchers have uncovered that some childhood cancers have a substantially higher number of DNA changes than previously thought, changing the way we view children’s tumors and possibly opening up new or repurposed treatment options. Concentrating on a type of childhood kidney cancer, known as Wilms tumor, an international team genetically sequenced multiple tumors at a … Read more
A novel bird flu genotype is driving a surge in outbreaks across wild birds, poultry, and even a human in British Columbia, raising urgent questions about how this virus is evolving and what it means for future pandemic preparedness. Study: Highly Pathogenic Avian Influenza A(H5N1) in Wild Birds and a Human, British Columbia, Canada, 2024. Image … Read more
Identifying and classifying gene mutations – which are the permanent changes in a person’s DNA genetic code – are critical in better understanding, and with research, eventually treating or preventing, the diseases with which they are linked. In a paper first posted online on April 3, 2025, in the journal European Urology Focus, a Johns Hopkins … Read more
Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological problems and heart conditions. But one of their most life-threatening challenges has remained a mystery-why are they so vulnerable to severe infections? Now, scientists at The Jackson Laboratory (JAX) may have finally pinpointed why. Their new study, … Read more
In a global first, scientists have used advanced base editing to repair a deadly gene mutation in a newborn, marking a major leap forward in the treatment of rare inherited metabolic diseases. Study: Personalized Gene Editing to Treat an Inborn Error of Metabolism. Image Credit: Shutterstock AI Generator / Shutterstock.com In a recent New England Journal … Read more
Just as species adapt over generations, our body’s cells accumulate DNA changes throughout life. Most are harmless, yet a few “driver” mutations give a cell a competitive edge and can spark cancer. Chemotherapy then adds a new evolutionary pressure, encouraging further genetic changes that let tumors bounce back. Researchers at IRB Barcelona have developed DiffInvex, … Read more
Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into adulthood only with bone marrow transplantation and regular cancer screening. But a new study demonstrates that mutations in one particular gene in the Fanconi anemia pathway result in an even … Read more
Scientists harnessed AI to create mutation-resistant antibodies that outperformed conventional drug design, offering a powerful new tool against fast-evolving viruses like SARS-CoV-2. Study: AI designed, mutation resistant broad neutralizing antibodies against multiple SARS-CoV-2 strains. Image Credit: Lightspring / Shutterstock In a recent study in the journal Scientific Reports, researchers tested and leveraged several cutting-edge technologies, including machine … Read more
Reduced levels of a critical protein are linked to devastating brain diseases like Alzheimer’s, frontotemporal dementia, and amyotrophic lateral sclerosis (ALS). Surprisingly, the protein shortage primarily affects the brain’s blood vessels. University of Connecticut researchers report in the April 16 issue of Science Advances that mutations in the TARDBP gene that reduce TDP-43 protein levels also impair the cells … Read more
A new study led by researchers at Hospital for Special Surgery (HSS) suggests that currently available therapies may help control chronic muscle inflammation in Duchenne muscular dystrophy (DMD), a severe condition that leads to muscle weakness and premature death. The study, published in PNAS, identifies new mechanisms that drive chronic muscle inflammation in a disease … Read more