Last update:
Clinical genetics news
Decoding the molecular signatures of night blindness
Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these mutations trigger complex, ...
58 minutes ago
0
0
Protective mechanism discovered in female brain: Switched-off X chromosome can reactivate to reduce disease severity
Researchers at Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) have identified a mechanism that protects the female brain from genetic diseases. Although one of the two X chromosomes is switched off in female cells ...
4 hours ago
0
0
New genetic tools offer more accurate breast cancer prediction for women of African ancestry
Despite major advances in genetic testing for breast cancer risk prediction, death rates remain disproportionately high among women of African ancestry. This is often due to a combination of factors, including failure of ...
4 hours ago
0
0
Can metabolism tune heart aging? Findings suggest epigenetic switches can be reset
In order for heart and vascular cells to develop properly and remain healthy for a long time, many processes in the cells must interact precisely. A new study from the German Center for Cardiovascular Research (DZHK) now ...
3 hours ago
0
0
Mutation map shows how key cancer gene drives tumor growth
Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth. The study focused on CTNNB1, a gene that produces the protein β-catenin, which helps regulate ...
14 hours ago
0
0
Your genes matter more for lifespan now than they did a century ago: Here's why
How much do your genes determine how long you'll live? It's a question that fascinates us, and one that's been debated for decades. For years, the answer seemed settled—genes account for about 20–25% of the variation ...
7 hours ago
0
0
Rethinking longevity: Genes account for 50% of human lifespan variation, study suggests
What determines how long we live—and to what extent is our lifespan shaped by our genes? Surprisingly, for decades, scientists believed that the heritability of human lifespan was relatively low compared to other human ...
Feb 1, 2026
1
44
Electronic informed consent in research on rare diseases sees strong participant interest
Research on rare diagnoses and the development of precision medicine depend on patients being able to share their health data in a secure and ethical manner. The research study, published in Scientific Reports, in which a ...
Jan 31, 2026
0
0
RNA therapy may be a solution for infant hydrocephalus
Hydrocephalus is a life-threatening condition that occurs in about 1 in 1,000 newborns and is often treated with invasive surgery. Now, a new study offers hope of preventing hydrocephalus before it even occurs. The paper ...
Jan 30, 2026
0
0
Researchers discover genetic ancestry is a critical component of assessing head and neck cancerous tumors
Genetic ancestry plays a key role in determining the behavior of head and neck tumors and may help explain why African-American patients survive for half as long as their counterparts of European ancestry, according to a ...
Jan 30, 2026
0
0
Big data make hidden genetic drivers of type 2 diabetes visible
Numerous genetic studies have identified many risk variants for type 2 diabetes (T2D)—but which genes and proteins are actually involved in the disease mechanisms? An international team led by Helmholtz Munich has now used ...
Jan 29, 2026
0
0
Study confirms rare CYP2C19 and CYP2D6 variants reduce drug-metabolizing activity
A new in vivo pharmacokinetic recall study involving 114 participants in the Estonian Biobank has provided the first clinical confirmation that previously uncharacterized genetic variants in the drug-metabolizing enzymes ...
Jan 29, 2026
0
0
Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical models
Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder.
Jan 29, 2026
0
0
Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies
Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare neurological conditions, patients ...
Jan 29, 2026
0
0
Gene behind delayed, softer teeth found in zebrafish study
A research team at the Korea University College of Medicine has uncovered a genetic mechanism responsible for delayed tooth development and impaired mineralization. The team, led by Professor Hae-chul Park (Department of ...
Jan 29, 2026
0
0
Two-year-old's medical care was transformed by research that connected her epilepsy to heart conditions
Two minutes. That's how long two-year-old Briar Curtis's heart stopped during a severe seizure in April 2025. Since birth and before, Briar had been sick. Her heart rate in the womb was high and erratic.
Jan 29, 2026
0
0
DNA research uncovers 22 genes that could put people at risk of long-term health conditions
Baylor College of Medicine researchers are part of a collaborative research group with AstraZeneca and Memorial Sloan Kettering Cancer Center that have identified 22 genes which increase the risk of developing a range of ...
Jan 28, 2026
0
19
How genes influence the microbes in our mouths to shape dental health
No matter how much they brush their teeth, some people still get more cavities than others, in part because of differences in genetics and the make-up of the microbes in their mouths. A new study has found human genetic factors ...
Jan 28, 2026
0
1
Map of autism mutations shows diverse genes converge on shared brain pathways
UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights into the ways diverse ...
Jan 28, 2026
0
25
Epistasis study uncovers genetic interactions linked to heart disease
Euan Ashley's lab explores the intricate interactions of gene variants. Tiny "typos," or genetic mutations, can sneak into segments of DNA. Many of these are harmless, but some can cause health problems. Two or more genes ...
Jan 28, 2026
0
0
Down syndrome's unique cancer risk profile mapped across lifespan
Children with Down syndrome have a significantly increased risk of leukemia, while adults have a lower risk of several common solid tumors, according to a new register study from Karolinska Institutet published in the British ...
Jan 28, 2026
0
0
Research improves risk assessment for hereditary breast cancer
Researchers at LUMC have made a breakthrough in understanding PALB2 mutations, an important cause of hereditary breast cancer. By identifying which mutations affect the function of PALB2, doctors can now assess much more ...
Jan 28, 2026
0
0
Early neural stem cell defects in Leigh syndrome may help children get diagnosed sooner
Virginia Tech researchers have discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings are published in EMBO Molecular Medicine.
Jan 28, 2026
0
0
Tiny fish helps clinicians avoid multi-million-dollar treatment for babies suspected of having spinal muscular atrophy
The tiny zebrafish is helping researchers rapidly determine whether a newborn's genetic mutation is likely to cause spinal muscular atrophy (SMA), one of the leading causes of infant mortality worldwide. The world-first research, ...
Jan 28, 2026
0
0
Computational method clarifies gene–drug links for precision cancer treatment
A paper published in Biology Methods and Protocols, indicates that a new computational method may help researchers identify effective precision treatments for cancer more quickly and efficiently. The paper is titled "SOLVE: ...
Jan 28, 2026
0
0
