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Exploring the impact of R-loops on genome integrity and disease

This new review article highlights the pivotal and paradoxical role of R-loops in maintaining genomic stability while simultaneously posing risks to it.

19 Apr 2025

Chromosomal rearrangements drive color evolution in stick insects

Understanding the material basis of adaptive evolution has been a central goal in biology dating back to at least the time of Darwin.

18 Apr 2025

Researchers identify gene targets that may protect against Alzheimer’s

A study published in the American Journal of Human Genetics by researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital provides solutions to the pressing need to identify factors that influence Alzheimer's disease (AD) risk or resistance while providing an avenue to explore potential biological markers and therapeutic targets.

17 Apr 2025

Researchers use algorithm to pinpoint disease risk mutations in noncoding DNA

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome.

17 Apr 2025

Study unveils genetic pathway leading to cleft lip and palate formation

Cleft lip and cleft palate are among the most common birth defects, occurring in about one in 1,050 births in the United States.

17 Apr 2025

New tool simplifies genomic research and boosts medical breakthroughs

A University of Virginia School of Medicine scientist and collaborators have developed a much-needed new tool to increase the efficiency of genomic research and accelerate the development of new ways to improve human health.

16 Apr 2025

Researchers link 9 blood proteins to breast cancer and suggest 3 drugs for repurposing

Researchers used integrated Mendelian randomization in a cohort of over 247,000 individuals to identify 62 plasma proteins associated with breast cancer risk. Nine high-confidence targets, including ULK3 and CSK, showed potential for drug repurposing and immune pathway regulation.

16 Apr 2025

FOXR2 activation found in multiple pediatric brain tumor types

Physicians classify brain tumors and determine treatment options, in part, by the genes they express. According to World Health Organization standards, the abnormal activation of oncogene FOXR2 only occurs in central nervous system (CNS) neuroblastoma, but that may not be true.

16 Apr 2025

Humanized liver organoids double survival rate in rodent models

One reason why our livers excel at clearing waste from our blood system is that the organ functions according to three key "zones" that perform specific major tasks.

16 Apr 2025

Study identifies DNA methylation entropy as a biomarker for aging

A new research paper was published in Aging (Aging-US) Volume 17, Issue 3, on March 12, 2025, titled "DNA methylation entropy is a biomarker for aging."

16 Apr 2025

Early detection of Alzheimer's disease through blood biomarker

Individuals with a genetic predisposition to Alzheimer's disease show altered blood levels indicating damaged neuronal contacts as early as 11 years before the expected onset of dementia symptoms.

16 Apr 2025

New enzyme family enables targeted cuts in single-stranded DNA

An INRS team discovers a new family of enzymes capable of inducing targeted cuts in single-stranded DNA .

16 Apr 2025

New genetic clues uncovered in epilepsy drug resistance

Certain common genetic changes might make some people with focal epilepsy less responsive to seizure medications, finds a new global study led by researchers at UCL and UTHealth Houston.

16 Apr 2025

New genetic study reveals hundreds of clues to osteoarthritis

About one in five American adults have osteoarthritis, the most common form of arthritis, according to the Centers for Disease Control and Prevention.

15 Apr 2025

Multiple myeloma care improved using innovative optical genome mapping

Researchers have demonstrated the potential of the innovative optical genome mapping (OGM) technique for the diagnosis, prognosis, and therapeutic management of multiple myeloma.

15 Apr 2025

Researchers analyze the mutational landscape of TMB-high colorectal cancer tumors

Colorectal cancer (CRC), a type of cancer that affects the large intestine and rectum, is one of the leading causes of cancer-related deaths worldwide.

15 Apr 2025

Inherited genetic variants play crucial role in cancer development and behavior

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the National Cancer Institute-funded Clinical Proteomic Tumor Analysis Consortium (CPTAC) and colleagues around the world, has discovered that the genes we are born with-known as germline genetic variants-play a powerful, underappreciated role in how cancer develops and behaves.

15 Apr 2025