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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

New genetic condition that raises vulnerability to opportunistic infections

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including life-threatening fungal pneumonia.

24 Jan 2023

Potential to rectify various disease-causing mutations enhanced by CRISPR-based enzymes

Designing genome editing strategies for each patient’s mutation would be impractical and expensive because many genetic diseases are induced by diverse mutations spread across an entire gene.

18 Jan 2023

Detecting the extent of natural selection over time

Institut Pasteur, Université Paris Cité, the CNRS, and the Collège de France researchers have employed paleogenomics to trace 10,000 years of human immune system evolution. They examined the genomes of over 2,800 individuals who lived in Europe over the past 10 millennia.

From Institut Pasteur 18 Jan 2023

Insights into the role of the germline in de novo mutation

The male reproductive system is a hotspot for the introduction of new genes. Perhaps that might assist in understanding why fathers tend to pass on more new mutations than mothers do. However, it does not explain why older fathers pass on more mutations than younger fathers.

16 Jan 2023

Point-of-care program boosts genetic testing for prostate cancer

Certain prostate cancer patients have genetic mutations that could affect how they are treated. According to a study published in Urology Practice®, an Official Journal of the American Urological Association (AUA), a comprehensive, on-site genetic testing program developed by urologists could help close the gap for this underutilized resource.

16 Dec 2022

Understanding the step-by-step development of E. coli resistance to drugs

Antibiotic resistance, which occurs when infection-causing bacteria evolve to the point where they are no longer affected by conventional antibiotics, is a worldwide concern.

15 Dec 2022

Using CRISPR technology to reduce the symptoms of Huntington’s disease

A neurological condition called Huntington's disease (HD) results in a progressive decline in movement, coordination, and mental ability. It is brought on by a mutation in the huntingtin, or HTT, gene.

From UC San Diego 14 Dec 2022

Analyzing progenitor fate and dynamics long after embryonic development

According to Johns Hopkins Medicine researchers, they have devised a computer model called quantitative fate mapping that looks back in time to track the origin of cells in a fully grown organism.

14 Dec 2022

Revealing the unappreciated role of POLQ in responding to DNA replication stress

Researchers at the Francis Crick Institute, in partnership with Artios, have discovered how an enzyme involved in DNA repair (POLQ) becomes critical to the survival of some tumors when the cancer cells lose the ability to employ a more frequent way of DNA repair.

1 Dec 2022

Microglial cells trigger inflammatory protective mechanisms in the immune system

Microglia, the brain’s own immune cells, are present in the central nervous system.

1 Dec 2022

Mutation News and Research

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

New genetic condition that raises vulnerability to opportunistic infections

Potential to rectify various disease-causing mutations enhanced by CRISPR-based enzymes

Detecting the extent of natural selection over time

Insights into the role of the germline in de novo mutation

Point-of-care program boosts genetic testing for prostate cancer

Understanding the step-by-step development of E. coli resistance to drugs

Using CRISPR technology to reduce the symptoms of Huntington’s disease

Analyzing progenitor fate and dynamics long after embryonic development

Revealing the unappreciated role of POLQ in responding to DNA replication stress

Microglial cells trigger inflammatory protective mechanisms in the immune system

Driving Support for Pharmaceutical Testing Through Continuous Innovation

From Memory to Metaplasticity: Unraveling the Brain's Secrets

Revolutionizing Mass Spectrometry: A Deep Dive into Plasmion’s SICRIT® Technology

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