Mutation News and Research

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Developing DNA Test to Eliminate Inherited Blindness in English Shepherd Dogs

Researchers at Cambridge have discovered the genetic mutation that causes English Shepherd Dogs to suffer from progressive retinal atrophy, an irreversible form of blindness.

22 Jul 2024

All-RNA Gene Writing Method Paves Way for Precise Gene Editing in Human Cells

A novel gene-writing technology based on retrotransposons.

15 Jul 2024

New Gene Editing Technique Outperforms Existing Therapies

Cystic fibrosis, a prevalent genetic disorder, leads to thick mucus accumulation in the lungs and other parts of the body, resulting in breathing difficulties and infections.

11 Jul 2024

New Genetic Circuit Forces Cancer Cells to Self-Destruct

Treating cancer can sometimes feel like a game of Whac-A-Mole. The disease can become resistant to treatment, and clinicians never know when, where and what resistance might emerge, leaving them one step behind.

5 Jul 2024

Bowel Cancer Cells Use Genetic On-Off Switch' to Evade the Immune System

Bowel cancer cells have the ability to regulate their growth using a genetic on-off switch to maximize their chances of survival, a phenomenon that's been observed for the first time by researchers at UCL and University Medical Center Utrecht.

4 Jul 2024

TRPC5 Gene Alterations: A Key Player in Obesity and Postpartum Depression

Researchers at Baylor College of Medicine, the University of Cambridge and collaborating institutions have discovered that alterations in the human gene TRPC5 cause obesity and postpartum depression.

3 Jul 2024

AI Uncovers Cancer Drivers in Non-Coding DNA

Researchers at the Garvan Institute have discovered putative drivers of cancer concealed in so-called "junk" DNA regions, creating opportunities for novel approaches to diagnosis and treatment using artificial intelligence.

3 Jul 2024

Mice Studies Shed Light on Serotonin and Memory

Memory regulation in humans and animal models is regulated by the serotonin 2C receptor in the brain, according to research from Baylor College of Medicine, the University of Cambridge in the United Kingdom, and affiliated institutions.

1 Jul 2024

Unlocking the Secrets of Aging Brains

Researchers have determined the potential mechanisms through which some long-lived mutants of the Caenorhabditis elegans model system experience cognitive decline and others can retain learning and memory into old age.

26 Jun 2024

Using iPSC-Derived Cardiomyocytes to Uncover Mechanisms of Hypertrophic Cardiomyopathy

Using animals to study heart disease doesn't always translate well to human health outcomes, and human heart cells available for research don't work outside the human body.

25 Jun 2024

Study Identifies Three Distinct Subtypes of Clear Cell Renal Cell Carcinoma Using Radiomics and Transcriptomics

Using transcriptomics and radiomics data clustering and its association with molecular characteristics, clinical pathologies, and prognosis to define intrinsic subtypes of ccRCC.

24 Jun 2024

Christchurch Variant Offers Protection Against Early-Onset Alzheimer's

A scientific story that began with a discovery in just one extraordinary patient is now panning out.

21 Jun 2024

New Clinical Trial Offers Path to Sickle Cell Cure

The most recent results from a clinical trial were given by researchers in an effort to find a cure for sickle cell disease, a painful genetic blood illness that has few available treatments.

17 Jun 2024

Whole Genome Sequencing Provides Answers Where Exome Sequencing Falls Short

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly.

11 Jun 2024

Engineered Enzyme Boosts Gene Editing Efficiency for Potential Cystic Fibrosis Treatment

Researchers at the Broad Institute of MIT and Harvard have enhanced a gene-editing technology, enabling it to efficiently insert or substitute entire genes in the genome of human cells.

11 Jun 2024

Study Highlights Key Protein-Lipid Interactions in Mitochondrial Energy Production

By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how our cells produce energy.

10 Jun 2024

Impact of Rare Disease Mutation Could Extend to More Prevalent Conditions

REX1 is a gene that is meant to direct the maintenance of the entire body’s DNA, but new research shows that when people are born with mutated TREX1, the DNA suffers catastrophic damage over time, resulting in a deadly rare disease known as retinal vasculopathy with cerebral leukoencephalopathy (RVCL).

5 Jun 2024