Mutation News and Research

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Study shows why a specific gene mutation has opposite effects on mice and human cancers

A small but significant metabolic difference between human and mouse lung tumor cells, has been discovered by Weill Cornell Medicine researchers, explaining a discrepancy in previous study results, and pointing toward new strategies for developing cancer treatments.

27 Feb 2023

New model simplifies the understanding of vascular malformations

Our bodies are made up of 60,000 miles of complex pipes that play a vital role in transporting nutrients throughout our bodies, performing waste disposal, and supplying our organs with fresh oxygen and blood.

27 Feb 2023

Single gene controls a switch between two alternative cell fates in sea anemone

When scientists disabled a single regulatory gene in a species of sea anemone, a stinging cell that shoots a venomous miniature harpoon for hunting and self-defense shifted to shoot a sticky thread that entangles prey instead, according to a new study.

24 Feb 2023

Genes can be used to better predict the likelihood of kidney cancer recurrence

A decade-long international study into kidney cancer has shown that doctors can predict the likelihood of a patient's disease returning by looking at DNA mutations in their tumors.

24 Feb 2023

New compound found in cigarette smoke damages human lung cells’ DNA

Once in a while, people are exposed to possibly detrimental substances in the environment or through their habits or diets. For instance, a compound discovered in cigarette and industrial smoke, benzo(a)pyrene (BaP), is responsible to damage DNA.

23 Feb 2023

Scientists accelerate the development of pure genetic lines by inducing mutation

Iowa State University researchers may have solved a long-standing challenge associated with accelerated development of pure genetic lines.

20 Feb 2023

Scientists correct limb length in mouse model of autosomal dominant Robinow Syndrome

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system.

16 Feb 2023

Protein-rich droplets in cells linked to many unresolved diseases

Most proteins localize to distinct protein-rich droplets in cells, also known as "cellular condensates". Such proteins contain sequence features that function as address labels, telling the protein which condensate to move into.

9 Feb 2023

Strata Oncology publishes study validating integrative pan-solid tumor predictor of PD-1/PD-L1 blockade benefit

Strata Oncology, Inc., a next-generation precision oncology company enabling smarter and earlier cancer treatment, today announced the publication of a new peer-reviewed study validating the clinical utility of the company's proprietary pan-solid tumor predictive biomarker for anti-PD-1/PD-L1 checkpoint inhibitor monotherapy benefit, Immunotherapy Response Score (IRS).

8 Feb 2023

Experimental optimization of prime editing to achieve high efficiency

Genome editing technologies have enormous potential for treating genetic diseases. Techniques like the extensively used CRISPR/Cas9 gene scissors target the source of the disease directly in the DNA.

3 Feb 2023

RNA-G quadruplexes in living cells: A real-time study

Amyotrophic lateral sclerosis (ALS), sometimes referred to as Stephen Hawking’s disease and Lou Gehrig’s disease is a neurological condition that causes the body’s muscles to gradually lose control.

2 Feb 2023

Study identifies genetic mutation in the SPTSSA gene as cause of Hereditary Spastic Paraplegia

A genetic mutation in the SPTSSA gene is identified as the cause of Hereditary Spastic Paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study, "SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia," published in Brain on on Jan. 30.

1 Feb 2023

Analyzing how disease-causing fungi become resistant to antifungal drugs

An investigation has been performed by scientists as to how disease-causing fungi become resistant to antifungal drugs to help avoid possibly detrimental impacts of the growing resistance harmful microbes are developing to drugs.

31 Jan 2023

AI-based strategy helps discover high-affinity antibody drugs

Scientists at University of California San Diego School of Medicine have developed an artificial intelligence (AI)-based strategy for discovering high-affinity antibody drugs.

31 Jan 2023

Anti-aging gene found in centenarians can rewind the heart's biological age by 10 years

An anti-aging gene discovered in a population of centenarians has been shown to rewind the heart's biological age by 10 years.

31 Jan 2023

Newly discovered genetic mutation may be a root cause of severe cases of childhood glaucoma

An international team of scientists led by Mass Eye and Ear, a member of Mass General Brigham, and Boston Children's Hospital, has discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma, a devastating condition that runs in families and can rob children of their vision by 3 years of age.

30 Jan 2023

AI develops first-ever functional artificial protein

Scientists have developed an AI system that can produce artificial enzymes from scratch. Even though several of these enzymes’ artificially generated amino acid sequences differed noticeably from those of any known natural protein, they nonetheless performed as well in laboratory testing as those found in nature.

27 Jan 2023

Persistent tumor mutation load may help predict outcome of novel immunotherapies

Cancer experts have tried, sometimes unsuccessfully, to use the total number of mutations in a tumor, called the tumor mutation burden (TMB), to predict a patient's response to immunotherapy.

27 Jan 2023

A 3D explanation of SPOP’s role in cancer

The protein SPOP, which also plays a role in endometrial, uterine, and other cancers, is the most mutated in prostate cancer. Despite its significance, it is still unclear how SPOP mutations cause cancer.

26 Jan 2023

Enhancing the efficacy of CRISPR/Cas9 and related methods

The effectiveness of molecular genetic techniques like CRISPR/Cas9 and related systems has been significantly improved, and their range of applications has been expanded, by researchers from the Department of Developmental Biology/Physiology at the Centre for Organismal Studies of Heidelberg University.

26 Jan 2023

Mutation News and Research

Study shows why a specific gene mutation has opposite effects on mice and human cancers

New model simplifies the understanding of vascular malformations

Single gene controls a switch between two alternative cell fates in sea anemone

Genes can be used to better predict the likelihood of kidney cancer recurrence

New compound found in cigarette smoke damages human lung cells’ DNA

Scientists accelerate the development of pure genetic lines by inducing mutation

Scientists correct limb length in mouse model of autosomal dominant Robinow Syndrome

Protein-rich droplets in cells linked to many unresolved diseases

Strata Oncology publishes study validating integrative pan-solid tumor predictor of PD-1/PD-L1 blockade benefit

Experimental optimization of prime editing to achieve high efficiency

RNA-G quadruplexes in living cells: A real-time study

Study identifies genetic mutation in the SPTSSA gene as cause of Hereditary Spastic Paraplegia

Analyzing how disease-causing fungi become resistant to antifungal drugs

AI-based strategy helps discover high-affinity antibody drugs

Anti-aging gene found in centenarians can rewind the heart's biological age by 10 years

Newly discovered genetic mutation may be a root cause of severe cases of childhood glaucoma

AI develops first-ever functional artificial protein

Persistent tumor mutation load may help predict outcome of novel immunotherapies

A 3D explanation of SPOP’s role in cancer

Enhancing the efficacy of CRISPR/Cas9 and related methods

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