Cedars-Sinai investigators have identified a "molecular switch" on a gene strongly associated with the autoimmune disease lupus, which appears to propel immune cells into overdrive, attacking and damaging healthy tissues and organs.
Growth charts for children with rare genetic disorders—giving health care professionals and families clearer guidance on how a child is developing—have been created by an international team, led by the University of Bristol. Their study...
University of California San Diego School of Medicine researchers, in collaboration with the genetic testing company 23andMe, have identified regions of the human genome associated with cannabis use, uncovering new relationships with...
Florey researchers have shown that a father's SARS-CoV-2 viral infection before conception can alter their offspring's brain development and behavior, through changes in sperm. Lead researcher Professor Anthony Hannan said the study in...
New research from the University of Adelaide has explored the genomic links within the index used to measure healthy aging—intrinsic capacity (IC), paving the way for potential targeted interventions.
Researchers at Cleveland Clinic Children's have helped identify a previously unknown gene that increases the risk of developing osteosarcoma, the most common type of malignant bone tumor in children and young adults.
Researchers at the Francis Crick Institute and Vividion Therapeutics have identified chemical compounds that can precisely block the interaction between the major cancer-driving gene RAS and a key pathway for tumor growth.
Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis and treatment, according to a new study. A baby's genome, which stays with them for life,...
In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed symptoms related to SYNGAP1-related disorders (SRD) in mice. These are a class of brain disorders that can lead to...
Rare hereditary diseases can be identified in patients and specific mutations in tumor cells detected—DNA sequencing revolutionized biomedical research decades ago. In recent years, new sequencing methods (next-generation sequencing) in...
Researchers have cracked the code behind how plants make mitraphylline, a rare cancer-fighting molecule. Their discovery of two critical enzymes explains how nature builds complex spiro-shaped compounds. The work paves the way for...
Mayo Clinic researchers have identified a protein that acts like a traffic controller for DNA, preventing damage during cell division—a discovery that could lead to new cancer therapies, according to a study published in Nature.
Errors in a gene known to cause a serious neurodevelopmental condition in infants are also linked to the development of Parkinson's disease in adolescence and adulthood, according to new research.
Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our bodies as we age. In the largest study to date, they have used the tool to provide insights into the earliest steps of...
Harmful genetic changes in sperm become substantially more common as men age because some are actively favored during sperm production, new research has revealed.
Bladder cancer is one of the most common cancers worldwide. Men are around four times more likely to develop it than women, and smoking is the main known environmental risk factor. However, the biological mechanisms behind these risk...
The prevalence of Alzheimer's disease (AD) is approximately two times higher in African Americans (AA) compared to white/European-ancestry (EA) individuals living in the U.S. Some of this is due to social determinants of health such as...
Scientists at the University of East Anglia and Oxford Biodynamics have developed a high accuracy blood test to diagnose chronic fatigue syndrome, also known as myalgic encephalomyelitis (ME/CFS).
Whole genome sequencing offered to breast cancer patients is likely to identify unique genetic features that could either guide immediate treatment or help match patients to clinical trials, say scientists at the University of Cambridge....
Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it's usually to try to identify a disease-causing gene to help guide diagnosis and treatment. But for most health...
Important genetic differences in how females and males experience depression have been revealed for the first time in findings that could pave the way for more targeted intervention and treatments.
Understanding the interaction between immune cells and cancer cells has important implications for cancer immunotherapies, including checkpoint inhibitor drugs and cell-based therapies, as well as newer treatments like cancer vaccines.
A major cardiovascular risk factor is thickening of the heart walls (hypertrophy), which can result from high blood pressure—but is also linked to inherited diseases of the heart which can lead to sudden death.
A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying associated traits and symptoms—can identify these conditions earlier and more frequently than standard genetic...
The genetic roots of a disease or disorder do not always grow into clear-cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, such as autism, only one may present...
Scientists at City of Hope have uncovered a gene called SMOC1 that plays a surprising role in the development of type 2 diabetes (T2D) by converting pancreatic cells that normally produce insulin into those that increase blood sugar.
Results of a recently published long-term follow-up of the ASAP trial, which was conducted at universities and clinics across Germany, show that the genetic risk of disease, not remission status, determines overall survival of patients...
Researchers at Texas Children's Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the accuracy of genetic testing—a...
Scientists studying tiny roundworms have uncovered how the secrets of a long life can be passed from parents to their offspring — without changing DNA. The discovery shows that when certain cellular structures called lysosomes change in...
Fresh analysis of Cassini data has revealed new complex organic molecules inside ice grains spewing from Enceladus. These discoveries strengthen the case that the moon’s underground ocean hosts chemistry similar to life’s building blocks...
Scientists have confirmed that the Atlas blue butterfly carries the most chromosomes of any animal, with 229 pairs. Unlike duplication, its chromosomes split apart, reshaping its genome in surprising ways. This discovery sheds light on...
Human fertility hinges on a delicate molecular ballet that begins even before birth. UC Davis researchers have uncovered how special protein networks safeguard chromosomes as eggs and sperm form, ensuring genetic stability across...
Scientists reclassified a long-misunderstood fossil from Brazil as a new genus, Franscinella riograndensis. Using advanced microscopy, they discovered spores preserved in situ—a rare find that links fossil plants to microfossil records....
In today’s newsletter: A gene therapy trial has successfully treated Huntington’s for the first time – one of several recent groundbreaking medical advances bringing hope in gloomy times Good morning. Few medical diagnoses are as brutal...
Surgical procedure to treat devastating illness slowed progress of disease by 75% in patients after three years Huntington’s disease, a devastating degenerative illness that runs in families, has been treated successfully for the first...
Researchers found that magic mushrooms and fiber caps independently evolved different biochemical pathways to create psilocybin. This convergence shows nature’s ingenuity, but the reason why remains unknown—possibly predator deterrence....
Rice, a staple for billions, is one of the most resource-hungry crops on the planet—but scientists may have found a way to change that. By applying nanoscale selenium directly to rice plants, researchers dramatically improved nitrogen...
Researchers uncovered how ants keep their powerful sense of smell clear: by using a genetic safeguard that silences surrounding receptor genes. This discovery not only solves a decades-old puzzle but also reveals how ants can rapidly...
Plus the right to roam the green and pleasant, and a £1,795-a-night solution to the postpartum blues An all-party parliamentary group is calling for everyone to be given the right to go wild camping and swimming across our green and...
Research which began with conversations round a campfire and went on to examine 7m gene variants shows how people survive with little water and a meat-rich diet A collaboration between African and American researchers and a community...
A team from the University of Illinois has uncovered surprising evolutionary links between the genetic code and tiny protein fragments called dipeptides. By analyzing billions of dipeptide sequences across thousands of species, the...
Scientists at Cold Spring Harbor Laboratory have cracked open the secrets of plant stem cells, mapping key genetic regulators in maize and Arabidopsis. By using single-cell RNA sequencing, they created a gene expression atlas that...
Volcanic eruptions on the remote island of Nishinoshima repeatedly wipe the land clean, giving scientists a rare chance to study life’s earliest stages. Researchers traced the genetic origins of an extinct purslane population to nearby...
A groundbreaking project is piecing together Leonardo da Vinci’s genetic profile by tracing his lineage across 21 generations and comparing DNA from living descendants with remains in a Da Vinci family tomb. If successful, the effort...
By analyzing tooth enamel chemistry, scientists uncovered proof that Jurassic dinosaurs divided up their meals in surprising ways—some choosing buds and leaves, others woody bark, and still others a mixed menu. This dietary diversity...
Sweetpotato, a critical food crop for millions, has finally had its genetic code fully decoded after decades of mystery. Scientists unraveled its extraordinarily complex genome of six chromosome sets, revealing a hybrid origin stitched...
Scientists in Tokyo have uncovered “Inocles,” massive strands of extrachromosomal DNA hidden inside bacteria in human mouths. These giants, overlooked by traditional sequencing, could explain how oral microbes adapt, survive, and impact...