Genetic factors contribute to some 30% of breast cancer cases in SA, necessitating investment in genomic research in African contexts. A seminal genetic study published in Nature Communication has discovered two genetic variants linked to breast cancer in black South African women, deepening knowledge about the genetic basis for this disease in African populations. The genome-wide association … 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
More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 international initiatives are exploring the expansion of newborn screening using genomic sequencing (NBSeq), but a new study by researchers from Mass General Brigham highlights … Read more
Researchers at the University of Minnesota have completed a first-in-human clinical trial testing a CRISPR/Cas9 gene-editing technique to help the immune system fight advanced gastrointestinal (GI) cancers. The results, recently published in Lancet Oncology, show encouraging signs of safety and potential effectiveness of the treatment. “Despite many advances in understanding the genomic drivers and other … Read more
Archyde Impaired Synaptic Pruning in Autism: Immune Cell Dysfunction Identified Table of Contents 1. Impaired Synaptic Pruning in Autism: Immune Cell Dysfunction Identified 2. The Role of synaptic Pruning in Brain Growth 3. Macrophages and Synaptic Clearance: A New Clue 4. CD209 Gene: A Potential Mediator 5. Implications for Future Therapies 6. Source: 7. Frequently … 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
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition in which affected individuals experience difficulties in social communication and exhibit restricted, repetitive patterns of behavior or interests. A growing body of research suggests that neurobiological changes, particularly abnormalities in dendritic spines, tiny protrusions on nerve cells where synapses form, may be a hallmark of ASD. … Read more
Found in the Finnish population, a rare variant of the TYROBP gene significantly increases the risk of Alzheimer’s disease, a new study led by the University of Eastern Finland shows. This gene variant affects the function of microglia, the cells which regulate inflammation in the brain. The findings further confirm the role of altered inflammatory … Read more