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Clinical genetics news
Study explores the genetic basis of an encephalopathy associated with epilepsy and autism
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It arises from mutations in the SYNGAP1 gene, which ...
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A hidden DNA region helps drive frailty, exposing brain and immune links that reshape aging risk
Researchers at McMaster University have identified, for the first time, a novel region of DNA and two associated genes connected to frailty, offering neurological and immune-related insights that might help explain why some ...
Apr 22, 2026
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Unexpected cancer mutations in brain's immune cells may help fuel Alzheimer's disease
As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, microglia, amass mutations ...
Apr 21, 2026
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How a key regulatory protein guides cartilage formation during embryonic development
Sox9, a master regulator of cartilage formation, switches its target genes dynamically during embryonic limb development instead of following a fixed program, as reported by researchers from Science Tokyo. They analyzed mouse ...
Apr 21, 2026
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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 ...
Apr 20, 2026
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Bowel cancer immunotherapy clinical trial follow-up shows zero relapses
Patients with a specific type of bowel cancer who were treated with a short course of immunotherapy before surgery instead of post-op chemotherapy have remained cancer-free after almost three years of follow-up, according ...
Apr 20, 2026
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AACR: Zedoresertib and lunresertib combination shows promising antitumor activity
For patients with advanced solid tumors harboring specific genetic alterations, the first-in-class synthetic lethal combination of WEE1 inhibitor zedoresertib plus PKMYT1 inhibitor lunresertib demonstrated promising antitumor ...
Apr 20, 2026
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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.
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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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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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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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 ...
