Phenotype News and Research

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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

Mapping complex peripheral immune response to severe COVID-19

In a recent article publicly available at medRxiv, researchers from Stanford have presented a single-cell atlas of the peripheral immune response to coronavirus disease (COVID-19), highlighting pertinent immunological features associated with the severe forms of the disease.

26 Apr 2020

Rice University wins prestigious grant to develop new therapies for sickle cell disease

A Rice University lab has won a prestigious National Institutes of Health grant to pursue gene-editing research it hopes will lead to a cure for sickle cell disease (SCD).

25 Apr 2020

Study shows why depression affects women more than men

Researchers at Mount Sinai have found that a novel class of genes known as long non-coding RNAs (lncRNAs) expressed in the brain may play a pivotal role in regulating mood and driving sex-specific susceptibility versus resilience to depression.

22 Apr 2020

Machine learning helps researchers to distinguish a rare subtype of kidney cancer

Putting together research for publication can be a challenging and time-consuming process, heightened even further because of the current COVID-19 situation, during which non-essential labs have been hibernated and many researchers are now working separately and remotely, instead of collaborating within the same space.

21 Apr 2020

Mutations in novel coronavirus make it more dangerous

A new report published on the preprint server medRxiv in April 2020 reveals that the novel coronavirus SARS-CoV-2 shows the presence of new mutations acquired within infected human cases, which significantly increase its ability to cause human disease.

20 Apr 2020