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Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300,000 live births but comes with the highest mortality rate among skin conditions. It is caused by a mutation in the ABCA12 gene, which codes for a protein involved in transporting lipids necessary for the formation of the skin barrier. Such protein shortage leads to a weaker epidermal barrier.

9 Mar 2023

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

For the first time, a research team has identified and analyzed the steps by which immune cells "see" and respond to cancer cells, providing insights into reasons some treatments may be effective for certain patients but not others.

9 Mar 2023

Scientists shed new light on aging processes in the brain

Scientists from the Trinity Biomedical Sciences Institute (TBSI) have shed new light on aging processes in the brain.

9 Mar 2023

Study findings reveal drug development possibilities for brain diseases

Nearly two dozen experimental therapies targeting the immune system are in clinical trials for Alzheimer's disease, a reflection of the growing recognition that immune processes play a key role in driving the brain damage that leads to confusion, memory loss and other debilitating symptoms.

9 Mar 2023

Liver-produced hormone protects mice against the harmful effects of intoxication

A shot of a liver-produced hormone called FGF21 sobered up mice that had passed out from alcohol, allowing them to regain consciousness and coordination much faster than those that didn't receive this treatment, UT Southwestern researchers report in a new study.

8 Mar 2023

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

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

LDL-mediated nanoparticle drug delivery could potentially circumvent high-grade gliomas

New research has shown that the blood vessels that feed aggressive brain tumors have receptors that could allow a new type of drug-containing nanoparticle to be used to starve the tumors of the energy they use to grow and spread, and also cause other disruptions to their adapted existence, even killing themselves.

8 Mar 2023

Socioeconomic and genetic factors likely interact in an additive way to increase risk of metabolic diseases

New research led by investigators at Massachusetts General Hospital, a founding member of Mass General Brigham, indicates that socioeconomic and genetic factors likely interact in an additive way to affect people's risks of developing obesity and type 2 diabetes.

8 Mar 2023

BGI’s fluorescent RT-PCR kit obtains market access qualification for detecting SARS-CoV-2, IFV A, IFV B in Australia

On March 2, BGI's Multiplex Real-time Fluorescent RT-PCR Kit for Detecting SARS-CoV-2, Influenza A Virus and Influenza B Virus obtained market access qualification to enter the Australian Register of Therapeutic Goods.

8 Mar 2023

An alternative option to treat ADCY5-related dyskinesia in patients

The asthma medication theophylline can be used to treat the movement disorder ADCY5-related dyskinesia. A recent study conducted by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle, and the University of Leipzig Medical Center demonstrated this.

7 Mar 2023

Study pinpoints a key cause of metastasis from an aggressive form of pediatric brain cancer

New research pinpoints a key cause of metastasis from an aggressive form of brain cancer in children and provides a potential new therapy for treating these tumors in the future.

7 Mar 2023

Significance of large-scale genetic studies in men of African ancestry

Investigators at USC’s Keck School of Medicine directed the meta-analysis, which discovered nine new genetic variants that boost the risk of prostate cancer in an under researched population, including a genetic risk score connected to aggressive forms of the disease.

6 Mar 2023

Researchers track a specialized garbage disposal cell inside lymph nodes for the first time

For almost 140 years, the origin and behavior of an enigmatic cell type inside lymph nodes, called a tingible body macrophage, has remained a mystery.

3 Mar 2023

Using nanoparticles to carry drugs across the blood-brain barrier

Brain tumors are notoriously hard to treat. One reason is the challenge posed by the blood-brain barrier, a network of blood vessels and tissue with closely spaced cells.

3 Mar 2023

Innovative method to quickly identify bacteria in fluids

Shine a laser on a drop of blood, mucus, or wastewater, and the light reflecting back can be used to positively identify bacteria in the sample.

3 Mar 2023

Researchers uncover how DNA double-stranded breaks are repaired

A team of researchers from Michigan State University's College of Veterinary Medicine has made a discovery that may have implications for therapeutic gene editing strategies, cancer diagnostics and therapies and other advancements in biotechnology.

3 Mar 2023

Researchers provide an entirely new perspective on tissue oxygenation

Cardiovascular medicine, hematology and pulmonary medicine may soon have the first-ever therapies to correct poor tissue oxygenation, a key driver of disease in millions, including peripheral artery disease, sickle cell disease, heart failure, stroke, emphysema and many others.

2 Mar 2023

Gaining insights into the muscle damage protective effect

Loss of muscle strength can be one of the most damaging outcomes when someone is unable to move a part of their body for a long period of time.

2 Mar 2023

Novel way to block the death of nerve cells in MND

Scientists have found a novel way to block the transportation of mutant RNA and subsequent production of toxic repeat proteins which lead to the death of nerve cells in the most common subtypes of motor neurone disease (MND) and frontotemporal dementia (FTD).

2 Mar 2023

Researchers find methods to awaken and revive neural stem cells

Some areas of the adult brain contain quiescent, or dormant, neural stem cells that can potentially be reactivated to form new neurons. However, the transition from quiescence to proliferation is still poorly understood. A team led by scientists from the Universities of Geneva (UNIGE) and Lausanne (UNIL) has discovered the importance of cell metabolism in this process and identified how to wake up these neural stem cells and reactivate them. Biologists succeeded in increasing the number of new neurons in the brain of adult and even elderly mice. These results, promising for the treatment of neurodegenerative diseases, are to be discovered in the journal Science Advances.

2 Mar 2023

Medicine News and Research

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

Scientists shed new light on aging processes in the brain

Study findings reveal drug development possibilities for brain diseases

Liver-produced hormone protects mice against the harmful effects of intoxication

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

LDL-mediated nanoparticle drug delivery could potentially circumvent high-grade gliomas

Socioeconomic and genetic factors likely interact in an additive way to increase risk of metabolic diseases

BGI’s fluorescent RT-PCR kit obtains market access qualification for detecting SARS-CoV-2, IFV A, IFV B in Australia

An alternative option to treat ADCY5-related dyskinesia in patients

Study pinpoints a key cause of metastasis from an aggressive form of pediatric brain cancer

Significance of large-scale genetic studies in men of African ancestry

Researchers track a specialized garbage disposal cell inside lymph nodes for the first time

Using nanoparticles to carry drugs across the blood-brain barrier

Innovative method to quickly identify bacteria in fluids

Researchers uncover how DNA double-stranded breaks are repaired

Researchers provide an entirely new perspective on tissue oxygenation

Gaining insights into the muscle damage protective effect

Novel way to block the death of nerve cells in MND

Researchers find methods to awaken and revive neural stem cells

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