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Clinical genetics news
A newly uncovered gene switch rewires infant heart cells and opens a treatment path for a deadly disease
Researchers from the Keck School of Medicine of USC have made an important advance toward understanding—and potentially treating—a rare cardiomyopathy (heart muscle disease) that is present from birth. The condition, known ...
2 hours ago
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Sex differences in brain gene activity could explain why some disorders affect men and women differently
The physical differences between men and women are all too obvious, but the biological divide goes right down to the cellular level in the brain, according to a new study published in the journal Science.
Apr 18, 2026
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Waves of gene control reveal how a key gene times limb development
In a new study published in Genes & Development, research led by Dr. Lila Allou at the MRC Laboratory of Medical Sciences (LMS) in London and Professor Stefan Mundlos at the Max Planck Institute for Molecular Genetics and ...
Apr 17, 2026
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Programming the immune system to manufacture its own therapeutic proteins
An innovative gene-editing strategy could establish a new way for the body to manufacture therapeutic proteins—including certain kinds of highly potent antibodies that are naturally difficult to produce—by reprogramming the ...
Apr 16, 2026
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Epilepsy gene implicated in severe migraine disorder
Investigators led by Northwestern Medicine scientists have identified mutations in a gene coding for a key ion channel in the brain as a new cause of a debilitating form of migraine, according to a study published in Brain. ...
Apr 16, 2026
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Lab-grown mini-brains shed light on childhood epilepsy
Why does the same genetic mutation cause a severe brain malformation in some patients but not in others? Researchers from the MOSAIC team at the Paris Brain Institute have developed mosaic human cortical organoids carrying ...
Apr 16, 2026
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A powerful new cancer map tracks hundreds of mutations to one escape route and exposes a drug target
Diseases like cancer or neurodegeneration are known to arise from genetic misfires. But treating such complex conditions hasn't been simply a matter of identifying the malfunctioning genes involved. With hundreds of genetic ...
Apr 15, 2026
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Genome-wide analysis reveals host–virus genetic interactions in cancer risk
A study from Columbia University Mailman School of Public Health reports a major advance in understanding how interactions between human and viral genomes shape disease risk. The research found that variations in the Epstein–Barr ...
Apr 15, 2026
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RNA sequencing platform unlocks rare disease diagnoses missed by standard tests
Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases.
Apr 15, 2026
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Blood test predicts kidney failure risk to Black Americans years before onset
A new blood test can identify which individuals of African ancestry carrying high-risk APOL1 gene variants are most likely to develop kidney failure, years before clinical disease becomes apparent. Findings on the new test, ...
Apr 15, 2026
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A major cancer protein hijacks RNA editing, exposing a new weakness in prostate tumors
Northwestern Medicine scientists have uncovered an unexpected role for a well-known cancer-related protein, revealing a new layer of genetic regulation that could reshape how certain cancers are treated. In a new study published ...
Apr 15, 2026
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Genetic atlas reveals how human liver cells divide their labor
If scientists could shrink themselves to microscopic size and take a journey through the human body—like the submarine crew in the 1966 science fiction classic "Fantastic Voyage"—one of their first stops would no doubt be ...
Apr 15, 2026
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BRCA's cancer map just grew: Gene mutations now implicated in thyroid, bladder, skin and head-neck cancers
An international group led by researchers from the RIKEN Center for Integrative Medical Sciences (IMS) in Japan has discovered associations between pathogenic variants of the BRCA 1 and 2 genes and four types of cancer. Published ...
Apr 15, 2026
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Diabetes study reveals previously overlooked genes tied to disease, pointing to new therapies
Dozens of unexpected genes are strongly linked to type 2 diabetes, new research from The Jackson Laboratory (JAX) shows. The findings, based on a new genomic atlas of pancreatic cells from non-diabetic, prediabetic, and diabetic ...
Apr 15, 2026
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Overloaded RNA 'editing room' reveals weakness in RAS-driven cancers
Researchers at the MRC Laboratory of Medical Sciences (LMS) and Imperial College London have identified an overworked cog in the cellular machinery of tumor cells that could be targeted by new treatment options for an aggressive ...
Apr 15, 2026
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How a misdirected DNA alarm could reshape treatment for rare rapid-aging diseases
The human immune system is finely tuned to detect and destroy viral threats. But this same defense system can misfire. When fragments of the body's own damaged DNA are mistaken for viral invaders, the result is a powerful, ...
Apr 15, 2026
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The link between migraine genetics and post-concussion headaches in kids
A University of Calgary-led study has found evidence that children with genes predisposing them to migraine might have an increased risk of having more headaches after a concussion, which are known to be linked to prolonged ...
Apr 15, 2026
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CRISPR takes a bold leap toward silencing Down syndrome's extra chromosome
Scientists have taken an important step toward a gene therapy that could one day turn off the extra genetic material that causes Down syndrome (DS). Down syndrome is a genetic condition caused by an extra chromosome 21 (and ...
Overlooked ribosomal DNA may help explain human size differences
Ribosomal RNA (rRNA), made from many copies of ribosomal DNA (rDNA), is the core component that powers ribosomes—protein-building machines in our body. It helps build proteins by linking amino acids together, and can also ...
Largest study of pregnancy sickness uncovers six new genetic links
The USC research team that recently identified the hormone-encoding gene GDF15 as a key driver of pregnancy sickness has identified nine additional genes linked to its most severe form, hyperemesis gravidarum (HG). Six of ...
Apr 14, 2026
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Rett syndrome study highlights potential for personalized treatments
Though many studies approach the developmental disorder Rett syndrome as a single condition arising from general loss of function in the gene MECP2, a new study by neuroscientists at The Picower Institute for Learning and ...
Apr 14, 2026
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Base editing repairs mutation and liver function in mouse model of Zellweger spectrum disorder
In 2025, baby KJ Muldoon became the first person to receive a personalized gene editing treatment, which likely saved his life. But the scientific advances that made the groundbreaking treatment possible were years in the ...
Apr 14, 2026
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Chloride ions do more than help neurons fire—they may also help control how genes are expressed
Chloride ions, best known for helping cells maintain fluid balance and electrical stability, may also play a more direct role in regulating brain development than previously thought. In a new study, published in the journal ...
Neuroinflammation triggers autism-like regression in mouse model
Autism spectrum disorder (ASD) is a neurodevelopmental condition estimated to affect approximately 1 in 100 children worldwide. This condition is characterized by differences in how people communicate and interact with others, ...
Newly identified RPN1 disease helps explain how protein damage can disrupt early brain development
Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In ...
Apr 13, 2026
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