Last update:
Clinical genetics news
Rapid genomic testing helps 1,100 families worldwide target treatment for rare childhood disease
An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.
1 hour ago
0
0
Same genetic mutation, different clinical outcomes: Study shows why neurodevelopmental disorders vary so widely
Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only ...
21 hours ago
0
6
Unmasking autism spectrum disorder through its gene-based roots
Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum disorder (ASD), the neurodevelopmental disease characterized by impaired communication, abnormal ...
May 5, 2026
0
10
Complete remission of aggressive pituitary tumor achieved through immunotherapy
Researchers at the University of Cincinnati Gardner Neuroscience Institute's Brain Tumor Center have been confirmed as the first in the world to achieve complete remission of a rare pituitary cancer using a novel immunotherapy ...
May 4, 2026
0
11
How sugar fuels sight: Glucose metabolism linked to epigenetic and gene expression changes in the retina
National Eye Institute (NEI) scientists have found that the way the retina metabolizes glucose directly controls which genes get switched on and off in light-sensing photoreceptors. The findings suggest that metabolic disruptions ...
May 4, 2026
0
8
Many genes have been linked to autism—but a new study suggests it may be their path to the brain that matters
In recent years, scientists have identified hundreds of different genes associated with autism, a burst of discovery that has prompted a new and perplexing question: how can so many different genes produce the same or very ...
May 4, 2026
0
12
Digital archive opens funding 'black box' behind genomics breakthroughs
A new digital archive developed by Northwestern scientists reveals how state-supported research funding agencies cooperate with the scientific community to decide to support scientific research projects and contribute to ...
May 4, 2026
0
4
Family data reveal two genetic paths to childhood depression and anxiety
Many common mental health disorders, including depression and anxiety, are associated with a tendency to internalize problems or, in other words, to direct feelings inwards instead of expressing them and sharing them with ...
Discovery of a new gene pattern could help doctors identify Ebola faster and more accurately
When someone is infected with Ebola, the body mounts a strong immune response, as it does in response to many pathogens. Researchers at the Wake Forest Institute for Regenerative Medicine (WFIRM) have now made an important ...
May 3, 2026
0
6
Cold skin, hot heart, one gene: Hidden temperature switch decides where disease appears
The saying "cold hands, warm heart" is usually meant metaphorically—but new research from UC Davis School of Medicine and collaborating institutions suggests it has a striking biological parallel.
May 2, 2026
0
12
Cell-by-cell analysis uncovers 345 risk genes across six neuropsychiatric disorders
The emergence of neuropsychiatric disorders, conditions that affect various brain functions and behaviors, is known to be driven by an intricate combination of factors. These can include both a genetic predisposition and ...
A gene that keeps intestinal stem cells stable offers insight into how tissues repair themselves
Years before he conducted the research that would earn him a Nobel Prize in Physiology and Medicine, Shinya Yamanaka, MD, Ph.D., was a postdoctoral scientist at Gladstone Institutes, studying genes. There, he helped discover ...
Apr 30, 2026
0
122
Genetic discovery may explain why pancreatic cancer is so difficult to treat
Pancreatic cancer can remain quiet for years, developing undetected before causing symptoms that lead to a diagnosis. Even after a surgeon removes a pancreas tumor, other cells often hide and erupt later. But University of ...
Apr 30, 2026
0
16
Predicting genetic risk for type 1 diabetes just got more accurate thanks to machine learning study
In people with type 1 diabetes (T1D), the immune system shuts down the body's ability to make the hormone insulin, responsible for regulating blood sugar and providing cells with glucose to produce energy. As a result, they ...
Apr 30, 2026
0
10
A study in 1.4 million women expands knowledge on endometriosis and its biological complexity
Endometriosis, a chronic inflammatory disease that affects approximately one in ten women of reproductive age—around 190 million worldwide—remains poorly understood from a biological perspective, which has historically hindered ...
Apr 30, 2026
0
8
Validation study reveals new tool can predict patients' genetic risk of 8 cardiovascular conditions
Researchers at Mass General Brigham Heart and Vascular Institute and collaborators have developed and validated a new genetic risk test that can estimate a person's inherited risk for eight common cardiovascular conditions, ...
Apr 29, 2026
0
6
Common genetic marker may guide new treatment for acute leukemia
A genetic alteration that is already routinely analyzed in patients with acute myeloid leukemia can be used to identify patients who respond to a new targeted therapy, according to a study published in the journal Discover ...
Apr 29, 2026
0
3
A banned chemical still lingers, and its strangest effect may depend on sex, genes and one common vitamin
In two new studies, researchers at the UC Davis MIND Institute have clarified how a long-banned group of chemicals, called polychlorinated biphenyls (PCBs), affect genetic activity. The research helps explain how biological ...
Apr 28, 2026
0
16
Cancer cells can rewrite RNA messages, creating new drug targets in aggressive tumors
Scientists have uncovered an unexpected way cells can generate cancer-driving proteins—by cutting RNA into shorter, functional fragments rather than following the standard blueprint. This process, newly termed as "RNA dicing," ...
Apr 28, 2026
0
11
Macaques reveal human-like genetic cause of inherited blindness, offering new disease model
An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in rhesus macaques at the California National Primate Research Center at the University of California, ...
Apr 28, 2026
0
10
Fluorescent quail embryos could help solve serious birth defects in humans
The quail is a small, unassuming bird that glides rather than flies and prefers to hide under bushes than to perch on top of a tree. And now, it's also helping scientists understand serious birth defects in humans.
Apr 28, 2026
0
4
Study identifies new treatment targets for vascular dementia
A new study led by researchers at UNSW Sydney's Center for Healthy Brain Aging (CHeBA) has identified potential biological targets that could help guide future research into treatments for vascular dementia—a common and serious ...
Apr 28, 2026
0
8
Researchers identify how the Dicer enzyme affects infertility and cancer progression
Activation of a specific part of the Dicer enzyme can change its shape in a way that affects its critical role in proper cell division, with implications for both cancer biology and fertility, according to researchers at ...
Apr 28, 2026
0
5
Tapping your genome with AI and quantum computing could deliver on the promise of personalized medicine
Decades after researchers first sequenced the human genome, scientists throughout the world are still working to understand it. Despite diligent global efforts to link uncommon variations in DNA sequences with human disease, ...
Apr 28, 2026
0
6
Rare bone disease mutation linked to kidney failure pathway, mouse study shows
Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure. Using a mouse model, they ...
Apr 27, 2026
0
5
