Last update:
Clinical genetics news
Williams-Beuren syndrome: Early enzyme changes may hold key to future treatments
Williams-Beuren syndrome is a rare, congenital disease in which the main morbidity and mortality comes from obstructions, or stenoses, in specific arteries. When these obstructions involve the aorta, it is known as supravalvular ...
1 hour ago
0
0
Q&A: Researcher discusses new tool to predict how cancer evolves
Researchers at Moffitt Cancer Center have developed a new way to predict how cancer cells evolve by gaining and losing whole chromosomes, changes that help tumors grow, adapt and resist treatment. In a new study, scientists ...
20 hours ago
0
0
Largest genetic study of schizophrenia and African ancestry reveals shared biology across global populations
A team of researchers has conducted the largest and most comprehensive genome-wide association study (GWAS) to date of schizophrenia in individuals of African ancestry.
Jan 21, 2026
0
0
Super-enhancers in cancer cells trigger DNA breaks and error-prone repair cycles
A new study shows that cancer damages its own DNA by pushing key genes to work too hard. Researchers found that the most powerful genetic "on switches" in cancer cells, called super-enhancers, drive unusually intense gene ...
Jan 21, 2026
0
0
Maternal genetic factors may reveal why pregnancy loss is so common
By studying genetic data from nearly 140,000 IVF embryos, scientists have with unprecedented detail revealed why fewer than half of human conceptions survive to birth. The research uncovered the strongest evidence yet for ...
Jan 21, 2026
0
2
Unexpected vitamin B1 connection emerges in genetic study of gut motility
Bowel habits aren't exactly dinner-table talk. But they reflect how quickly the gut moves things along, and when that goes wrong, people can experience constipation, diarrhea, or irritable bowel syndrome (IBS). Yet the biological ...
Jan 20, 2026
0
180
Preventing 'spermageddon'—discovery of an immune-like mechanism that protects fertility
New insights into a sophisticated process that protects sperm cells has revealed a mechanism, similar to an immune system, thwarts genetic chaos during the earliest stages of their development.
Jan 20, 2026
0
0
Qatari genetic map reveals over 150,000 structural variants
Research co-led by King's College London and Sidra Medicine, Qatar, has produced the most detailed map to date of large-scale genetic differences in the Qatari population, providing a clearer picture of the genetic diversity ...
Jan 20, 2026
0
0
Unusual KRAS mutation in pancreatic cancer may explain less aggressive tumors
A study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene mutation behaves differently from other variants.
Jan 20, 2026
0
31
Machine learning identifies factors that may determine the age of onset of Huntington's disease
A team from the Faculty of Medicine and Health Sciences and the Institute of Neurosciences at the University of Barcelona (UBneuro) has applied advanced artificial intelligence techniques to better understand why Huntington's ...
Jan 20, 2026
0
0
Brazilian research reveals how some types of breast cancer 'evade' treatment
Brazilian researchers have identified previously unknown forms of a protein linked to breast cancer. The discovery contributes to our understanding of variability in responses to treatment, even with the most advanced therapies.
Jan 20, 2026
0
0
Motor protein discovery in fruit flies may unlock neurodegenerative secrets
Scientists have long known that inherited neurodegenerative disorders, including Alzheimer's, Parkinson's or motor neuron disease, can be traced back to genetic mutations. However, how they cause the diseases remains unanswered.
Jan 19, 2026
0
2
Structure-based RNA could lead to treatment for neuromuscular disorders
Researchers from Carnegie Mellon University have discovered a way to target RNA that could lead to new treatment options for myotonic dystrophy type 1 (DM1), the most common adult-onset form of muscular dystrophy, and other ...
Jan 18, 2026
0
34
Novel liquid biopsy technology lowers barriers for more efficient cancer diagnostics
A novel liquid biopsy technology is set to advance cancer diagnostics and monitoring by overcoming the long-standing challenge of simultaneously achieving high sensitivity, broad coverage, and simple workflow. A team of researchers ...
Jan 17, 2026
0
0
Super agers tend to have at least two key genetic advantages, study finds
The gene variant posing the greatest genetic risk of late-onset Alzheimer's disease (AD) is called APOE-ε4. A different variant of the same gene, APOE-ε2, is thought to confer protection against AD.
Jan 16, 2026
0
83
Alternative RNA splicing tied to schizophrenia-like behaviors in animal models
In a new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia.
Jan 16, 2026
0
99
Immune-targeting vaccine shows promise intercepting cancer in patients with Lynch Syndrome
The investigational cancer vaccine, NOUS-209, was found to safely stimulate the immune system to target precancerous and cancerous cells in individuals with Lynch Syndrome (LS), according to a study from researchers at The ...
Jan 16, 2026
0
15
Research reveals clues as to why standard antidepressants fail for so many
A study from the University of Sydney's Brain and Mind Center reveals new clues as to why standard antidepressants fail for many Australians, opening the door for more effective, personalized treatments.
Jan 16, 2026
0
40
National genomic screening program could save thousands of Australians from preventable cancer and heart disease
Leading genomic health experts from Monash University are calling for urgent government funding to progress the development of a national preventive genomic testing program that would save thousands of Australians from conditions ...
Jan 16, 2026
0
0
Reprogrammed skin cells shed light on HIV-related cognitive impairment
Using participant skin cells reprogrammed into neurons, Weill Cornell Medicine researchers have identified genetic signatures associated with HIV infection that may contribute to the cognitive impairment that often occurs ...
Jan 15, 2026
0
45
New drug approach targets stress response in rare brain disorder PMD
A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according to findings published in Nature Communications.
Jan 15, 2026
0
0
Huntington's disease: Treatments are finally on the horizon after recent advances
Huntington's disease (HD) has long been impossible to cure, but new research is finally giving fresh hope. HD is a progressive, hereditary brain disease that affects movement, cognition and emotions. Doctors often diagnose ...
Jan 15, 2026
0
1
Trial reveals gene variant may affect prostate cancer drug efficacy
Data from a major U.S. clinical trial from the Alliance for Clinical Trials in Oncology has uncovered a genetic factor that may inform how to optimize the dosing of abiraterone, a widely used hormone treatment for advanced ...
Jan 15, 2026
0
0
Fruit fly pigmentation guides discovery of genes that control brain dopamine and sleep
Dopamine in the brain influences movement, learning, motivation and sleep. In humans, problems with dopamine are linked to conditions like Parkinson's disease, depression and sleep disorders. While scientists know a great ...
Jan 13, 2026
0
41
