Mutation News and Research

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Cancer cells hijack enhancer DNA to grow faster, study finds

University of Toronto researchers have found that cancer cells can enhance tumor growth by hijacking enhancer DNA normally used when tissues and organs are formed.

29 Sep 2023

New drug could transform how doctors treat grade 2 IDH-mutant gliomas

A top UVA Health cancer expert is highlighting how a new drug could transform how doctors treat a brain tumor that typically strikes younger people.

29 Sep 2023

New CRISPR-based gene-editing tool could lead to better treatments for genetic disorders

A new CRISPR-based gene-editing tool has been developed which could lead to better treatments for patients with genetic disorders.

29 Sep 2023

Aerosolized ACE2 neutralizes COVID-19 variants in lab and mice tests

Researchers from the University of Texas Southwestern have developed an aerosolized, mutated form of ACE2 that effectively neutralizes various SARS-CoV-2 variants in both cell cultures and mice. The study suggests that this modified ACE2 has promising preventive and therapeutic potential against COVID-19, especially with its easy aerosolized administration.

28 Sep 2023

Mutations on a key SARS-CoV-2 viral protein linked to extreme immune responses

Mutations on a key SARS-CoV-2 viral protein are linked to extreme immune responses and could offer a novel vaccine target.

27 Sep 2023

Medication and mutations: molnupiravir's impact on SARS-CoV-2 genomes

Researchers discovered molnupiravir-associated mutational signatures in SARS-CoV-2 genomes.

27 Sep 2023

Arrayed CRISPR Screening for Revolutionizing Target Discovery

In this interview conducted at SLAS EU 2023 in Brussels, Belgium, we spoke to Ulrike Kuenzel, Associate Director in the Functional Genomics department at AstraZeneca about the application of arrayed CRISPR screening for target identification and more.

From Society for Laboratory Automation and Screening (SLAS) 27 Sep 2023

Breast cancer patients treated with alpelisib have elevated rates of high blood sugar

New research has uncovered elevated rates of high blood sugar, or hyperglycemia, among patients with breast cancer who are treated with the oral medication alpelisib.

25 Sep 2023

New model paves way to understanding and preventing SUDEP in familial epilepsy

Researchers at the University of Michigan have developed a model for studying one type of familial epilepsy, opening the door to understanding—and eventually targeting—the mechanisms that lead to the disorder and its associated fatalities.

25 Sep 2023

How are SARS-CoV-2 variants outsmarting our immune system and vaccines?

Researchers use multiomics analysis to understand how SARS-CoV-2 variants, including Alpha, Delta, and Omicron, modulate the host's cellular responses and adapt to evade human immunity. The study highlights the potential for targeted therapies against both adaptive and innate immune responses.

25 Sep 2023

Exercise boosts immune defense in Lynch syndrome patients

Aerobic exercise, specifically cycling, shows promise in reducing inflammation and boosting immune responses in the colonic tissue of Lynch syndrome patients, a group at high risk for colorectal cancer. The study suggests that regular exercise may offer a preventive approach for this patient population, though further randomized trials are needed.

24 Sep 2023

Peptide vaccine targets H3K27M mutation in midline gliomas, shows promise in early trials

Tumor vaccines can help the body fight cancer. These vaccines alert the patient's immune system to proteins that are carrying cancer-typical alterations.

22 Sep 2023

Decoding tauopathies: New study identifies non-coding RNA as a key player in Alzheimer's

Researchers at Washington University School of Medicine identify a key step in the development of harmful tau tangles, offering a potential target for preventing brain damage in diseases like Alzheimer's. The study highlights the role of long noncoding RNAs, particularly SNHG8, in stress granule formation and tau aggregation, opening new avenues for treatment.

22 Sep 2023

Study sheds light on the cause of craniosynostosis in infants

Craniosynostosis, the premature fusion of the top of the skull in infants, is caused by an abnormal excess of a previously unknown type of bone-forming stem cell, according to a preclinical study led by researchers at Weill Cornell Medicine.

21 Sep 2023

Rice engineers develop split gene-editing tool with enhanced control

To make a gene-editing tool more precise and easier to control, Rice University engineers split it into two pieces that only come back together when a third small molecule is added.

21 Sep 2023

AlphaMissense revolutionizes genetic mutation analysis for disease prediction

AlphaMissense, an adaptation of AlphaFold, offers a highly accurate model for predicting the pathogenicity of human proteome-wide missense variants at the single amino acid level. The model outperforms existing methods, providing valuable insights for diagnosing rare diseases and developing targeted therapies.

20 Sep 2023

DeepMind develops new tool to predict pathogenicity of missense variants

DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of "variants of uncertain significance" – have on disease.

19 Sep 2023

Study offers new insight into increased risk of blood clots in women

New research from Queen Mary University of London, published in iScience, shows an increased risk of blood clots in women who have any combination of a particular gene mutation, estrogen use, or common medical conditions - specifically: obesity, high blood pressure, high cholesterol, and kidney disease.

19 Sep 2023

Researchers identify a rare cause of male infertility and discover a potential cure

Researchers investigated the genetic underpinning of asthenozoospermia, the leading cause of male fertility.

18 Sep 2023

Single-cell screening of cerebral organoids to identify developmental defects in autism

Researchers develop CRISPR-human organoids-single-cell RNA sequencing system to identify developmental brain defects in autism.

18 Sep 2023

Mutation News and Research

Cancer cells hijack enhancer DNA to grow faster, study finds

New drug could transform how doctors treat grade 2 IDH-mutant gliomas

New CRISPR-based gene-editing tool could lead to better treatments for genetic disorders

Aerosolized ACE2 neutralizes COVID-19 variants in lab and mice tests

Mutations on a key SARS-CoV-2 viral protein linked to extreme immune responses

Medication and mutations: molnupiravir's impact on SARS-CoV-2 genomes

Arrayed CRISPR Screening for Revolutionizing Target Discovery

Breast cancer patients treated with alpelisib have elevated rates of high blood sugar

New model paves way to understanding and preventing SUDEP in familial epilepsy

How are SARS-CoV-2 variants outsmarting our immune system and vaccines?

Exercise boosts immune defense in Lynch syndrome patients

Peptide vaccine targets H3K27M mutation in midline gliomas, shows promise in early trials

Decoding tauopathies: New study identifies non-coding RNA as a key player in Alzheimer's

Study sheds light on the cause of craniosynostosis in infants

Rice engineers develop split gene-editing tool with enhanced control

AlphaMissense revolutionizes genetic mutation analysis for disease prediction

DeepMind develops new tool to predict pathogenicity of missense variants

Study offers new insight into increased risk of blood clots in women

Researchers identify a rare cause of male infertility and discover a potential cure

Single-cell screening of cerebral organoids to identify developmental defects in autism

Arrayed CRISPR Screening for Revolutionizing Target Discovery

Innovations in baculovirus–insect cell expression systems

Compound Management and its Crucial Role in Early Pharmaceutical Research

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