Mutation News and Research

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Scientists use base editing to repair mitochondrial DNA mutations

In a step toward treating mitochondrial diseases, researchers in the Netherlands have successfully edited harmful mutations in mitochondrial DNA using a genetic tool known as a base editor.

25 Jun 2025

Mayo Clinic researchers discover how ovarian cancer may begin

Little is known about what causes ovarian cancer, and there is no way to detect it early yet. About 75% of the time when someone is diagnosed with ovarian cancer, it has already progressed to stage 3 or stage 4, which means it has spread to other parts of the body.

24 Jun 2025

New KRAS mutation discovery opens door to targeted colon cancer therapies

Scientists at Fox Chase Cancer Center have identified a mutation in a common oncogene - a gene that can cause cancer - that may play an important role in colon cancer. Researchers also showed how this mutation could be targeted therapeutically.

24 Jun 2025

Protective gene variant slows Alzheimer’s by taming brain inflammation

A rare gene mutation that delays Alzheimer's disease does so by damping inflammatory signaling in brain-resident immune cells, according to a preclinical study led by investigators at Weill Cornell Medicine.

23 Jun 2025

New imaging breakthrough sheds light on brain communication pathways

For the first time, scientists using cryo-electron microscopy have discovered the structure and shape of key receptors connecting neurons in the brain's cerebellum, which is located behind the brainstem and plays a critical role in functions such as coordinating movement, balance and cognition.

23 Jun 2025

New DNA test predicts chemotherapy resistance in cancer patients

Cancer Research UK-funded scientists at the University of Cambridge, in collaboration with the Spanish National Cancer Research Centre (CNIO) and Cambridge-based startup Tailor Bio, have created a test which can successfully predict whether cancer will resist common forms of chemotherapy treatment.

23 Jun 2025

Scientists develop tool to predict bowel cancer drug resistance

Scientists have developed a tool that can predict how bowel cancer adapts to treatment – helping researchers to design new personalized drugs that will keep patients living well for longer.

20 Jun 2025

NUCDF launches national project to advance urea cycle disorder research

The National Urea Cycle Disorders Foundation, the leading patient advocacy group for people affected by urea cycle disorders (UCDs), today announced the launch of a two-year national project to establish the multistakeholder NUCDF Partner Network and develop a roadmap for future research in these rare disorders.

19 Jun 2025

Researchers explore new approach to target rare epileptic disorders

Humans have tens of thousands of genes, many of which produce proteins essential to basic bodily functions.

18 Jun 2025

New insights into how inhalational anesthetics induce general anesthesia

Since their anesthetic effects were discovered approximately 180 years ago, inhalational anesthetics have been used for general anesthesia in surgical operations.

18 Jun 2025

Healthy glial cell transplants slow Huntington’s disease progression

Huntington's disease has long defied attempts to rescue suffering neurons. A new study in Cell Reports shows that transplanting healthy human glial progenitor cells into the brains of adult animal models of the disease not only slowed motor and cognitive decline but also extended lifespan.

17 Jun 2025

BRCA mutations sharply increase risk of implant-associated lymphoma

Women with breast cancer who were also carriers of the BRCA1 or BRCA2 mutation and received textured breast implants as part of their reconstructive surgery after mastectomy were 16 times more likely to develop breast implant-associated anaplastic large cell lymphoma (BIA-ALCL), a rare T-cell lymphoma, compared with similar women without these genetic mutations, according to a study published today in Blood Advances.

14 Jun 2025

New drug combination shows high remission rates in acute myeloid leukemia

A combination therapy that adds a recently approved drug to the current standard of care for newly diagnosed acute myeloid leukemia (AML) showed high rates of complete remission in an early-phase clinical trial conducted at UNC Lineberger Comprehensive Cancer Center and 11 other sites nationwide.

13 Jun 2025

AI and film animation tools lead to breakthrough in coronavirus drug discovery

About 30% of all respiratory tract infections are caused by coronaviruses, leading to widespread illnesses and, in some cases, to epidemic and even pandemic outbreaks, as we experienced with the COVID-19 pandemic.

13 Jun 2025

New nanopore sequencing assay advances fragile X syndrome carrier screening

Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities.

12 Jun 2025

Study reveals a unique vulnerability in melanoma patients with neurofibromin 1 mutations

Increased activity in a specific biological pathway may explain why many patients with a deadly form of skin cancer do not respond to the latest cancer treatments, a new study shows.

10 Jun 2025

Structural insights into IVD enzyme function and isovaleric acidemia

IVD is a key enzyme in leucine catabolism, catalyzing the conversion of isovaleryl-CoA to 3-methylcrotonyl-CoA.

10 Jun 2025

Energy drain from antibiotics spurs bacteria to resist treatment faster

Antibiotics are supposed to wipe out bacteria, yet the drugs can sometimes hand microbes an unexpected advantage.

9 Jun 2025

Genetic mutation tied to Crohn's disease can worsen iron deficiency and anemia

A study led by biomedical scientists at the University of California, Riverside School of Medicine shows how a genetic mutation associated with Crohn's disease can worsen iron deficiency and anemia - one of the most common complications experienced by patients with inflammatory bowel disease, or IBD.

6 Jun 2025

Genetic mutation identified as key factor in immunotherapy resistance for melanoma

Tests in 1,225 patients with the most deadly form of skin cancer reveal for the first time a genetic trait among most of those who did not respond to the latest cancer treatments, known as immune checkpoint inhibitors.

5 Jun 2025