Autor: Clinical genetics
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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 in Nature Communication…
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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, misplaced inflammatory respon…
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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 the liver. The unique structur…
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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 people, suggest the dis…
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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.
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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 in ESMO Open, the find…
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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 mutations spanning diverse p…
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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 virus, together with a…
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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, developed by a team from the…
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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 fine-tune this process by inte…