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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

How well do current vaccines hold up against new SARS-CoV-2 variants BA.2.86 and FLip?

The study explores the efficacy of three-dose monovalent or bivalent vaccinations in neutralizing newly emerged SARS-CoV-2 variants BA.2.86 and FLip. While BA.2.86 showed lower immune evasion abilities compared to recent XBB variants, it was less effectively neutralized by the monoclonal antibody S309, raising questions about vaccine efficacy against evolving strains.

17 Sep 2023

Study upends common belief in what triggers Parkinson's disease

A new Northwestern Medicine study challenges a common belief in what triggers Parkinson's disease.

15 Sep 2023

NICER: A safer alternative to CRISPR/Cas9 for gene editing

The gene editing technique CRISPR/Cas9 has allowed researchers to make precise and impactful changes to an organism's DNA to fix mutations that cause genetic disease.

15 Sep 2023

MIT study reveals why immunotherapy doesn't work for all cancer patients

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14 Sep 2023

New Omicron subvariant BA.2.86: A master of immune escape but not taking over yet

Researchers have isolated a new SARS-CoV-2 Omicron subvariant, BA.2.86, revealing its ability to escape neutralizing antibodies five-fold greater than its ancestor strain. Despite its enhanced immune evasion capabilities, BA.2.86 has not shown a significant difference in spread compared to other current variants.

13 Sep 2023

Innovative technique provides unparalleled insight into autism pathology

Does the human brain have an Achilles heel that ultimately leads to Autism? With a revolutionizing novel system that combines brain organoid technology and intricate genetics, researchers can now comprehensively test the effect of multiple mutations in parallel and at a single-cell level within human brain organoids.

13 Sep 2023

A combination of inhibitors may suppress tumor growth and prevent cancer relapse

An international team of researchers has demonstrated that a combination of inhibitors may suppress tumor growth and prevent relapse in patients with certain cancers, including head and neck squamous cell carcinoma and lung adenocarcinoma.

12 Sep 2023

Scientists identify malaria-causing parasites resistant to both treatment and detection in Ethiopia

Scientists have detected new strains of malaria-causing parasites in Ethiopia that are both resistant to current treatments and escape detection by common diagnostic tests - a development that could increase cases and deaths from malaria and make eliminating the persistent disease an even greater challenge.

11 Sep 2023

Study identifies cellular processes that likely lead to Parkinson's disease

Parkinson's disease, characterized by various motor dysfunctions, is the second most common neurodegenerative disorder in the world. It is known that specific gene mutations that are passed down through families are responsible for some cases of Parkinson's disease.

11 Sep 2023

Low-molecular weight human interleukin-1β antagonist discovered

Researchers described the detection of a human interleukin-1β antagonist with low molecular weight that disrupts interactions with the interleukin-1 receptor type I receptor.

11 Sep 2023

PI3K pathway rewiring drives prostate cancer growth

Experts in cell signaling at the Babraham Institute have identified how prostate cancer cells achieve cell growth free from the usual growth cues and regulators.

11 Sep 2023

Adagrasib shows durable clinical activity in KRAS-G12C-mutated NSCLC

The oral, selective KRAS G12C inhibitor The oral, selective KRAS G12C inhibitor KRAS-G12C inhibitor adagrasib demonstrated durable clinical activity, with a median overall survival of 14.1 months and approximately one in three patients alive at two years, according to research presented today at the International Association for the Study of Lung Cancer (IASLC) 2023 World Conference on Lung Cancer in Singapore.

11 Sep 2023

Study provides new hope for patients with stage III EGFR-mutant non-small cell lung cancer

The immunotherapy drug, durvalumab, has been the standard of care for patients with stage III non-small cell lung cancer(NSCLC) to improve survival, when prescribed after chemotherapy and radiation therapy.

11 Sep 2023

Researchers use machine learning to predict drug approval chances before clinical trials

Developing new drugs is paramount in discovering innovative treatments and preventing diseases. This is vital not only for advancing medicine but also for the overall health and well-being of humanity.

8 Sep 2023

Latest updates on SARS-CoV-2 variants identified in the UK

The UK Health Security Agency (UKHSA) has published SARS-CoV-2 variant surveillance and assessment technical briefing 53. It contains the latest epidemiological and genomic analysis of the emergent BA.2.86 variant.

8 Sep 2023

Ohio State University Wexner Medical Center administers first targeted gene therapy for ALS

The Ohio State University Wexner Medical Center is one of the first nationwide to administer a targeted gene therapy for patients with a specific form of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects the cells in the brain and spine.

8 Sep 2023

Mutation News and Research

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

How well do current vaccines hold up against new SARS-CoV-2 variants BA.2.86 and FLip?

Study upends common belief in what triggers Parkinson's disease

NICER: A safer alternative to CRISPR/Cas9 for gene editing

MIT study reveals why immunotherapy doesn't work for all cancer patients

New Omicron subvariant BA.2.86: A master of immune escape but not taking over yet

Innovative technique provides unparalleled insight into autism pathology

A combination of inhibitors may suppress tumor growth and prevent cancer relapse

Scientists identify malaria-causing parasites resistant to both treatment and detection in Ethiopia

Study identifies cellular processes that likely lead to Parkinson's disease

Low-molecular weight human interleukin-1β antagonist discovered

PI3K pathway rewiring drives prostate cancer growth

Adagrasib shows durable clinical activity in KRAS-G12C-mutated NSCLC

Study provides new hope for patients with stage III EGFR-mutant non-small cell lung cancer

Researchers use machine learning to predict drug approval chances before clinical trials

Latest updates on SARS-CoV-2 variants identified in the UK

Ohio State University Wexner Medical Center administers first targeted gene therapy for ALS

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

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