Phenotype News and Research

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Hesperos’ immune system-on-a-chip emulates immune reactions for tissue damage and acute inflammation

Hesperos Inc., pioneers of the Human-on-a-Chip in vitro system, today announced the publication of a new peer-reviewed publication that describes how the company’s technology can be used to investigate immune responses following treatment with biological therapeutics for multi-organ systemic diseases, including cancer, infectious diseases and inflammatory disorders.

4 Jun 2020

Scientists uncover why developing nerve cells take a wrong turn

A group of scientists from CECAD, the Cluster of Excellence 'Cellular Stress Responses in Aging-Associated Diseases,' have found a mechanism by which neurodevelopmental diseases concerning neurons can be explained: The loss of a certain enzyme, UBE2K, impeded the differentiation of stem cells by silencing the expression of genes important for neuronal differentiation and, therefore, the development and generation of neurons.

3 Jun 2020

Specific immune suppression leads to severe COVID-19 disease

A new study published online on the preprint server medRxiv in May 2020 reports that specific changes in the way the human immune system responds to COVID-19 determine whether the individual develops moderate or severe illness.

2 Jun 2020

Study resolves contradictions surrounding p53 gene's role in pluripotent stem cell differentiation

The gene p53 is extremely important in cell biology and, hence, the world of cell replacement therapy. Its role is to regulate the cell cycle and halt the formation of tumors, leading to its nickname the "tumor suppressor gene."

1 Jun 2020

Temple research suggests new way to prevent abdominal aortic aneurysm therapeutically

The main thoroughfare that carries oxygen-rich blood from the heart to the abdomen is known as the abdominal aorta.

28 May 2020

Genomic analysis compares ADHD-related genetic variants in Neanderthal and modern human samples

The frequency of genetic variants associated with attention-deficit/hyperactivity disorder (ADHD) has decreased progressively in the evolutionary human lineage from the Palaeolithic to nowadays, according to a study published in the journal Scientific Reports.

27 May 2020

First independent test of proposed subphenotypes of COVID-19-related ARDS

In a new paper published online in the Annals of the American Thoracic Society, researchers have been unable to produce two theorized subphenotypes of COVID-19 related acute respiratory distress syndrome (ARDS).

27 May 2020

New study reveals complex role of immune-system molecule in Huntington's disease

More than a decade before people with Huntington's disease show symptoms, they can exhibit abnormally high levels of an immune-system molecule called interleukin-6 (IL-6), which has led many researchers to suspect IL-6 of promoting the eventual neurological devastation associated with the genetic condition.

26 May 2020

Experts define TRAF7 syndrome-associated phenotype spectrum

An international multicentre study describes a rare disease characterized by a series of recognizable facial features, cardiac defects and intellectual disability, which they propose to name as TRAF7 syndrome -according to the name of the gen that causes this pathology.

19 May 2020

Kawasaki disease outbreak in children with COVID-19

The ongoing COVID-19 pandemic has marched its way to almost all parts of the world, with hundreds of thousands of deaths and over 4.5 million cases as of May 15, 2020. One saving grace has been the apparent sparing of children, though the mortality in older people is quite high.

17 May 2020

A 'multi-omics' approach to the development of drugs against COVID-19

A new study published on the preprint server medRxiv* in May 2020 reports a multi-omics approach that could make it easier to develop drugs that are effective against COVID-19.

12 May 2020

Study: New combination treatment significantly improves degenerative joint diseases

Hutchinson-Gilford Progeria Syndrome (HGPS) is a fatal condition that is especially prevalent in the skin, cardiovascular and the musculoskeletal systems. There exists a wide gap between existing knowledge of the disease and a potential treatment or cure.

12 May 2020

COVID-19 could accelerate activation of dormant tuberculosis (TB)

The ongoing COVID-19 pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has thrown much of the world into disarray, with over 4 million people reported infected and well over 282,000 deaths. A new study published on the preprint server bioRxiv in May 2020 suggests that the long-term impact of the virus could include activation of dormant bacterial infections like tuberculosis (TB).

10 May 2020

Researchers identify transcription factor that preserves the genomic integrity of germline

The germline is the cell lineage of an organism that passes on its genetic material to its progeny. Genetic damage to the germline can cause developmental defects and even death of that same progeny.

7 May 2020

Low CD8 and NK cell counts in the lung linked to high SARS-CoV-2 ACE2 receptor levels

A new study published on the preprint server bioRxiv in April 2020 reports that low levels of specific immune cells, namely, CD8 T cells and NK cells, are linked to higher expression of the ACE2 molecule, which acts as a receptor for the CoV.

6 May 2020

AMP publishes evidence-based recommendations to standardize clinical genotyping tests for warfarin response

The Association for Molecular Pathology (AMP), the premier global, molecular diagnostic professional society, today published consensus, evidence-based recommendations to aid in the design, validation and interpretation of clinical genotyping tests for the prediction of warfarin response.

6 May 2020

COVID-19 progression linked to B cell activation

The disease course of COVID-19 is diverse, ranging from asymptomatic to fatal respiratory failure. Scientists have been working to uncover the immunological reasons behind this heterogeneity. A recent study on B cells, published on the preprint server medRxiv in April 2020, shows that extrafollicular B cells could be a marker of severe infection in the early stages, predicting the need for earlier immunomodulatory therapy.

4 May 2020

Uncovering immune cell reactions in COVID-19

A new study published on the preprint server medRxiv in April 2020 suggests that an overactive immune response is responsible for the more severe manifestations of the illness.

4 May 2020

Combination of schizophrenia drug and radiation shows promise in treating glioblastoma

Researchers at the UCLA Jonsson Comprehensive Cancer Center and colleagues have found that adding a drug once commonly used to treat schizophrenia to traditional radiation therapy helped improve overall survival in mice with glioblastoma, one of the deadliest and most difficult-to-treat brain tumors.

2 May 2020

Scientists link undiagnosed human disease with rare mutation in PHETA1 gene

Virginia Tech scientists with the Fralin Biomedical Research Institute at VTC have manipulated genes to link an undiagnosed human disease with a rare mutation in the PHETA1 gene.

30 Apr 2020