Mutation News and Research

RSS

Researchers Develop STITCHR to Insert Whole Genes Without Unwanted Mutations

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations.

12 Apr 2025

New Genetic Insights From Long Read Sequencing in a Teen With Complex Psychiatric Conditions

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

12 Apr 2025

Genetic Sequencing Leads to Major Discovery in Neurodevelopmental Disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

11 Apr 2025

Japanese Researchers Develop New Assay to Detect Epigenetic Toxicity

Chemicals used as food preservatives, flavoring agents, dyes, pesticides, cosmetics, cleaners, and other industrial materials are being increasingly recognized as a health hazard.

11 Apr 2025

Breakthrough Delivery System Advances CRISPR-Based Treatments

A research team from Helmholtz Munich and the Technical University of Munich has developed an advanced delivery system that transports gene-editing tools based on the CRISPR/Cas9 gene-editing system into living cells with significantly greater efficiency than before.

10 Apr 2025

New Protein Identified as Regulator of Mitochondrial Calcium Transport

Calcium transport into and out of mitochondria – the powerhouses of cells – is central to cellular energy production and cell death.

9 Apr 2025

Scientists Discover Epigenetic Marks in Pancreatic Cancer Transition

Johns Hopkins Medicine scientists say they have found a pattern of so-called epigenetic "marks" in a transition state between normal and pancreatic cancer cells in mice, and that the normal cells may keep at least a temporary "memory" of those cancer-linked marks.

7 Apr 2025

Breakthrough Gene Therapy Shows Promise for Treating Hereditary Hearing Loss

Congenital hearing loss refers to impaired auditory function that occurs due to genetic causes. GJB2 is the gene responsible for approximately half of all cases of hereditary hearing loss.

28 Mar 2025

New AI Model Helps Predict Future Mutations in SARS-CoV-2 Spike Protein

It's been five years since COVID-19 was declared a global pandemic. As SARS-CoV-2 shifts to endemic status, questions about its future evolution remain.

28 Mar 2025

Horses' Unique Genetic Adaptation for Superior Endurance Revealed

Researchers have revealed a secret behind horses' exceptional endurance – a mutation in the KEAP1 gene that boosts energy production while protecting against cellular oxidative stress.

28 Mar 2025

How B Cells Know When to Mutate—and When to Chill

Study reveals B cells suppress mutations during rapid division, enhancing immune response and offering critical insights for vaccine and treatment development.

27 Mar 2025

Scientists Unlock the Mechanism Behind piRNA's Defense Against Jumping Genes

Adverse genetic mutations can cause harm and are due to various circumstances. "Jumping genes" are one cause of mutations, but cells try and combat them with a specialized RNA called piRNA.

22 Mar 2025

New Insights into How B Cells Strategically Clone High-Affinity Antibodies

A vaccine's ability to generate long-lasting, high-affinity antibodies hinges on a delicate balance. Upon exposure to a vaccine or pathogen, B cells scramble to refine their defenses, rapidly mutating in hopes of generating the most effective antibodies.

20 Mar 2025

Advanced Imaging Deciphers B Cell Dynamics in Lymph Nodes

Germinal centers are machines of rapid evolution. Germinal centers are tiny clusters in the lymph nodes that refine antibodies through proliferation and mutation to create high-affinity B cells that are suited to control various infections.

20 Mar 2025

Rethinking Cancer: Moving Beyond Genetic Mutations to a Holistic View

It's time for researchers to reconsider the current paradigm of cancer as a genetic disease, argued Sui Huang from the Institute for Systems Biology, USA, and colleagues in a new essay published March 18th in the open-access journal PLOS Biology.

19 Mar 2025

Study Reveals How Syngap1 Gene Affects Touch-Based Perception in Mice

You may scarcely notice it, but much of what you do every day requires your brain to engage in perceptual learning.

14 Mar 2025

‘Rescue’ Mutations Protect Liver From Damage in Patients With Genetic Disorder

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin deficiency, new research shows.

11 Mar 2025

DENND1B Gene Linked to Obesity in Dogs and Humans

Dogs are a compelling model of human obesity, in part because they develop obesity due to similar environmental influences as people.

8 Mar 2025

Mapping DNA's Hidden Switches: A Methylation Atlas

A new study, led by PhD student Jonathan Rosenski under the guidance of Prof. Tommy Kaplan from the School of Computer Science and Engineering and Prof. Yuval Dor from the Faculty of Medicine at the Hebrew University of Jerusalem and Hadassah Medical Center, has been published in Nature Communications, presenting the first comprehensive atlas of allele-specific DNA methylation across 39 primary human cell types.

7 Mar 2025

Colossal Creates the Colossal Woolly Mouse, Showcasing Breakthroughs in Multiplex Genome Editing and Trait Engineering on the Path to a Mammoth

In an extraordinary achievement of advanced multiplexed genome engineering, Colossal Biosciences announces the birth of the Colossal Woolly Mouse—mice engineered to express multiple key mammoth-like traits that provide adaptations to life in cold climates.

5 Mar 2025