Mutation News and Research

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Y chromosome’s unexpected impact on aging and disease in men

Loss of the Y chromosome (LOY) in men, a dynamic mutation linked to aging, impairs immune function and increases risks of cancer, Alzheimer’s, and cardiovascular diseases, making it a promising biomarker and therapeutic target.

5 Jan 2025

Genetic mutation in esophageal cancer found to have dual effects

A genetic fault long believed to drive the development of esophageal cancer may in fact play a protective role early in the disease, according to new research published in Nature Cancer.

3 Jan 2025

Twigstats unveils Europe’s hidden ancestral shifts from Iron Age to Viking era

Twigstats reveals ancient migrations in Europe, enhancing genomic analysis and uncovering genetic shifts from 500 BCE to 1000 CE with unprecedented precision.

3 Jan 2025

Unveiling the role of gene inactivation in human disease

New work by Columbia researchers has turned a textbook principle of genetics on its head and revealed why some people who carry disease-causing genes experience no symptoms.

2 Jan 2025

Scientists launch public resource to classify cancer subtypes for better diagnosis

A multi-institutional team of scientists has developed a free, publicly accessible resource to aid in classification of patient tumor samples based on distinct molecular features identified by The Cancer Genome Atlas (TCGA) Network.

2 Jan 2025

Public health experts outline critical steps in handling HPAI H5N1 spread

Highly pathogenic H5N1 avian influenza A virus (HPAI H5N1) remains a low risk to the general public, and public health experts in the United States believe that available treatments and vaccines, as well as those in development, are sufficient to prevent severe disease.

2 Jan 2025

Mapping cerebellar nuclei outputs in an autism mouse model

The cerebellum plays a critical role in both motor and non-motor functions, and its dysfunction is linked to various mental disorders, including autism.

27 Dec 2024

Setd2 catalytic activity is crucial for embryonic development in mice

A recent study delves into the pivotal role of Setd2, a histone methyltransferase enzyme, in embryonic development within mice.

27 Dec 2024

New insights into the developmental trajectory of social behaviors in fragile X syndrome

In a comprehensive Genomic Press Interview, researchers from the University of Texas Health Science Center at San Antonio and Hirosaki University have uncovered critical new insights into the developmental trajectory of social behaviors in fragile X syndrome, the leading genetic cause of autism spectrum disorder.

24 Dec 2024

SPLICER shows promise in Alzheimer's and other diseases

A new gene editing tool that helps cellular machinery skip parts of genes responsible for diseases has been applied to reduce the formation of amyloid-beta plaque precursors in a mouse model of Alzheimer's disease, researchers at the University of Illinois Urbana-Champaign report.

23 Dec 2024

Lithium shows promise as a potential therapy for autism spectrum disorder

A groundbreaking discovery has highlighted lithium - a drug long used to treat bipolar disorder and depression - as a potential therapy for autism spectrum disorder (ASD).

23 Dec 2024

New nanoparticle platform delivers drug pairs to specific cancer types

Researchers at Tel Aviv University have developed a new platform using polymeric nanoparticles to deliver drug pairs to specific cancer types, including skin cancer and breast cancer.

23 Dec 2024

Generating mutated proteins through adversarial attacks on the AlphaFold2 model

Announcing a new publication for Acta Materia Medica journal. Proteins are essential macromolecules that perform functions according to their conformational dynamics.

21 Dec 2024

New insights into glioblastoma resistance to temozolomide

In spite of intensive research, glioblastoma remains one of the most lethal types of brain cancer. Temozolomide (TMZ) is used as the front-line medicine in its treatment.

19 Dec 2024

Breakthrough in antigen recognition: TRACeR-I enhances immune targeting

Researchers describe TRACeR-I, a protein platform that can be used to engineer immune responses.

19 Dec 2024

Novel drug holds promise for treating Duchenne muscular dystrophy

A novel drug holds promise for treating Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes severe muscle degeneration.

16 Dec 2024

Key to LDL clearance uncovered: Structural details of apoB100-LDLR binding emerge

Researchers reveal the structural details of apoB100's interaction with LDL receptors, offering insights into LDL dimerization and potential treatments for familial hypercholesterolemia.

12 Dec 2024

Surrey research offers new hope for people suffering from immunodeficiencies

Several rare immune disorders are caused by mutations in the patient's DNA. The University of Surrey and its collaborators found that targeting the mutated pathways with new drugs offers new hope for people suffering from rare conditions such as immunodeficiencies.

12 Dec 2024

Imlunestrant offers new hope for ER-positive HER2-negative breast cancer

Imlunestrant, an investigational next-generation selective estrogen receptor degrader (SERD), improved progression-free survival in patients with endocrine therapy-pretreated, ER-positive, HER2-negative advanced breast cancer - as monotherapy in patients with ESR1 mutations and as combination therapy with abemaciclib (Verzenio) in all patients, regardless of ESR1 mutation status - according to results from the phase III EMBER-3 clinical trial presented at the San Antonio Breast Cancer Symposium (SABCS), held December 10-13, 2024.

11 Dec 2024

Risk-reducing surgeries provide benefits for young BRCA-mutation carriers

Patients with germline BRCA mutations who were diagnosed with breast cancer at or before age 40 and who underwent a bilateral risk-reducing mastectomy (RRM) and/or a risk-reducing salpingo-oophorectomy (RRSO) had lower rates of recurrence, secondary breast and/or ovarian malignancies, and death than those who did not undergo these surgeries, according to results presented at the San Antonio Breast Cancer Symposium (SABCS), held December 10-13, 2024.

11 Dec 2024