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Insulin deficiency leads to reduced pancreas size in type 1 diabetes

Individuals with Type 1 diabetes have a smaller pancreas than people without diabetes. This is surprising because insulin-producing beta cells account for just a small fraction of the pancreas, so the loss of beta cells in Type 1 diabetes would not be expected to reduce pancreas size.

10 Mar 2023

Newly identified therapeutic target could lead to more effective treatment of glaucoma

Indiana University School of Medicine researchers have identified a new therapeutic target that could lead to more effective treatment of glaucoma.

10 Mar 2023

Important backup mechanism of human immune cells elucidated

The enzyme TBK1 is an important component of the innate immune system that plays a critical role in the defense against viruses.

10 Mar 2023

Novel triple assortments of swine influenza virus detected in pigs by active surveillance analysis in China

Researchers discuss the results of an active surveillance analysis for the swine influenza virus.

10 Mar 2023

Evolutionary convergence of the SARS-CoV-2 A-lineage spike sequences

Researchers assessed the impact of evolutionary convergence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) A-lineage (Clade 19B) spike sequences on B-lineage viral replication.

9 Mar 2023

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.

8 Mar 2023

Study identifies a potential new treatment approach for acute myeloid leukemia

A team of researchers has discovered a potential therapeutic that can synergize with existing drugs to more effectively kill certain leukemia cells.

8 Mar 2023

Research shows the benefits of screening AML patients in remission for residual disease before bone marrow transplant

Researchers at the National Institutes of Health show the benefits of screening adult patients in remission from acute myeloid leukemia (AML) for residual disease before receiving a bone marrow transplant.

7 Mar 2023

Mutant mice models created for studying bipolar disorder

Bipolar disorder (BD) is a debilitating condition characterized by alternating states of depression (known as depressive episodes) and abnormal excitement or irritability (known as manic episodes).

7 Mar 2023

Common scientific method to analyze DNA in early human embryos fails to accurately reflect gene edits

A commonly used scientific method to analyze a tiny amount of DNA in early human embryos fails to accurately reflect gene edits, according to new research led by scientists at Oregon Health & Science University.

7 Mar 2023

Researchers investigate the potential effect of folic acid supplementation on DNA mutation rates

It is well established that folic acid supplementation can significantly reduce the risk of birth defects, including neural tube defects like spina bifida, the most common birth defect of the central nervous system and the second most common of all structural birth defects.

6 Mar 2023

Researchers discover a new mutation that leads to arrhythmogenic cardiomyopathy

Researchers from the group of Eva van Rooij in collaboration with the UMC Utrecht identified a new mutation that leads to the cardiac disease arrhythmogenic cardiomyopathy (ACM).

5 Mar 2023

Gene mutation capable of regulating pain discovered

Pain afflicts at least 1.5 billion people worldwide, and despite the availability of various painkilling drugs, not all forms of pain are treatable.

3 Mar 2023

Research identifies a possible treatment strategy for rare bone marrow failure syndrome

Bone marrow is the spongy tissue inside bone responsible for making red blood cells, white blood cells and platelets. Bone marrow failure syndromes lead to an increased risk of developing dangerous infections, anemia and an increased risk of blood cancers.

2 Mar 2023

Study reveals a new pathway for how children and adults develop cardiomyopathy

Researchers have discovered how a gene that increases the risk of developing genetic heart disease functions, paving the way for new treatments.

2 Mar 2023

New cell-based assay shown to rapidly profile drug resistance to three widely used SARS-CoV-2 main protease inhibiting drugs

In a recent study posted to the bioRxiv* pre-print server, researchers tested three next-generation severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) main protease (Mpro) inhibitors, namely, nirmatrelvir, ensitrelvir, and FB2001, using a novel cell-based assay.

1 Mar 2023

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

A team of investigators from Massachusetts General Hospital, a founding member of Mass General Brigham and Mass General for Children has identified - for the first time - the mutation in a single non-coding gene of a young patient responsible for the extremely rare disease known as multisystemic smooth muscle dysfunction syndrome, which causes profound cerebrovascular, gastrointestinal and urologic impairment.

28 Feb 2023

The evolution of transmissible variants harboring mutations consistent with immune escape in mild community COVID-19 cases

Researchers investigate whether transmissible SARS-CoV-2 variants developed during infection by culturing and sequencing strains obtained from serial oral and nasal samples of community-residing COVID-19 patients.

28 Feb 2023

Novel microfluidic model mimics a rare genetic disorder

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.

24 Feb 2023

Women with a BRCA1 or BRCA2 pathogenic variant have high risk of cancer after age 50

Although genetic mutations in BRCA1 or BRCA2 are associated with a younger onset of breast and ovarian cancer, women with these genetic mutations continue to face a high risk of cancer incidence after age 50, even if they have not been previously diagnosed with cancer.

24 Feb 2023

Mutation News and Research

Insulin deficiency leads to reduced pancreas size in type 1 diabetes

Newly identified therapeutic target could lead to more effective treatment of glaucoma

Important backup mechanism of human immune cells elucidated

Novel triple assortments of swine influenza virus detected in pigs by active surveillance analysis in China

Evolutionary convergence of the SARS-CoV-2 A-lineage spike sequences

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Study identifies a potential new treatment approach for acute myeloid leukemia

Research shows the benefits of screening AML patients in remission for residual disease before bone marrow transplant

Mutant mice models created for studying bipolar disorder

Common scientific method to analyze DNA in early human embryos fails to accurately reflect gene edits

Researchers investigate the potential effect of folic acid supplementation on DNA mutation rates

Researchers discover a new mutation that leads to arrhythmogenic cardiomyopathy

Gene mutation capable of regulating pain discovered

Research identifies a possible treatment strategy for rare bone marrow failure syndrome

Study reveals a new pathway for how children and adults develop cardiomyopathy

New cell-based assay shown to rapidly profile drug resistance to three widely used SARS-CoV-2 main protease inhibiting drugs

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

The evolution of transmissible variants harboring mutations consistent with immune escape in mild community COVID-19 cases

Novel microfluidic model mimics a rare genetic disorder

Women with a BRCA1 or BRCA2 pathogenic variant have high risk of cancer after age 50

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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