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Clinical genetics news
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 ...
3 hours ago
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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 ...
13 hours ago
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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.
7 hours ago
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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 ...
8 hours ago
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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 ...
4 hours ago
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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.
16 hours ago
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Researchers identify genetic blueprint of mania in bipolar disorder
For the first time, researchers at King's College London and the University of Florence have identified the specific genetic blueprint of mania, the defining feature of bipolar disorder. Bipolar disorder is one of the most ...
Jan 27, 2026
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Scientists develop first gene-editing treatment for skin conditions
Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the University of British Columbia are extending those possibilities to the skin for the first time. The UBC ...
Jan 27, 2026
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A curiosity-driven journey toward understanding brain folding
The human brain's soft folds and ridges, arising in early development and continuing through the first 18 months of life, are a visual icon for intelligence itself. Peeling back the layers of this fundamental biological process ...
Jan 27, 2026
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How your life story leaves epigenetic fingerprints on your immune cells
The COVID-19 pandemic gave us tremendous perspective on how wildly symptoms and outcomes can vary between patients experiencing the same infection. How can two people infected by the same pathogen have such different responses? ...
Jan 27, 2026
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Genes, smoking and obesity raise pneumonia risk, especially for older adults
Researchers at the University of Oulu have identified genes that increase susceptibility to pneumonia. Alongside inherited risk factors, smoking and higher body mass were also found to raise the risk of developing the disease. ...
Jan 27, 2026
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Researchers explore new diagnostic tools, genetic roots for early-onset dementia
Researchers at the new Center for Brain Health at UT Health San Antonio are studying midlife testing for early-onset dementia with blood-based biomarkers to see if they can detect disease activity up to 20 years before symptoms ...
Jan 27, 2026
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Deep-learning algorithms enhance mutation detection in cancer and RNA sequencing
Researchers from the Faculty of Engineering at The University of Hong Kong (HKU) have developed two innovative deep-learning algorithms, ClairS-TO and Clair3-RNA, that significantly advance genetic mutation detection in cancer ...
Jan 26, 2026
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Cancer's secret safety net: A hidden mechanism lets dangerous mutations thrive
Researchers in Class of 1942 Professor of Chemistry Matthew D. Shoulders' lab have uncovered a sinister hidden mechanism that can allow cancer cells to survive (and, in some cases, thrive) even when hit with powerful drugs. ...
Jan 26, 2026
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Lab-grown mini-stomachs could boost understanding of rare diseases
Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains the key components of the full-sized human organ. Known as a multi-regional assembloid, the pea-sized ...
Jan 26, 2026
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Li-Fraumeni syndrome: How the immune system may shape inherited cancer risk
Li-Fraumeni syndrome is a rare hereditary disease that significantly increases the risk of developing cancer. Almost all affected individuals receive a cancer diagnosis at least once in their lifetime. A new study suggests ...
Jan 26, 2026
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