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Scientists provide a complete phenotypic landscape of SCN2A-related disorders

Researchers from Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism.

18 Mar 2021

Genetic flaw shows promise for treating eye disease

A genetic flaw may hold the key to delay or prevent the onset of a serious eye disorder that can result in blindness and vision loss.

From Walter and Eliza Hall Institute of Medical Research (WEHI) 17 Mar 2021

Study reveals substantial difference in selection and timing of genetic tests for non-small-cell lung cancer

During biomarker testing, certain disease-associated molecules are examined to estimate the progression of a disease and its response to treatments.

17 Mar 2021

Environmental DNA could help better understand grasses that cause allergies

Pollen from grass is a significant outdoor allergen that causes widespread and expensive respiratory conditions, such as hay fever (rhinitis) and allergic asthma.

15 Mar 2021

RNA-editing events can reveal the genetic basis of many human diseases

Scientists from CHOP have detected RNA-editing events that affect the expression of genes and the phenotypic manifestation of that specific expression.

10 Mar 2021

Study demonstrates the contagion effect of weight loss program in relatives of participants

People living with a patient undergoing an intensive weight loss treatment also benefit from this therapy.

10 Mar 2021

New technique can mitigate the effects of brain injury in preterm babies

One in 10 babies are born prematurely in the United States, leading to complications that can impact the infants’ locomotor development and affect basic tasks.

9 Mar 2021

Immune cells in cerebrospinal fluid could be biomarkers to predict immunotherapy response

Results from a study led by Joan Seoane, Director of Preclinical and Translational Research co-program at VHIO and ICREA Professor, show that immune cells accessing cerebrospinal fluid faithfully recapitulate the characteristics of cells identified in brain metastasis, and could therefore constitute novel biomarkers of response to immune-based therapies.

9 Mar 2021

Psychoactive component of marijuana stays in breast milk for up to six weeks, study finds

In a new study published in JAMA Pediatrics, researchers at Children's Hospital Colorado have found that tetrahydrocannabinol (THC), the psychoactive component of marijuana, stays in breast milk for up to six weeks, further supporting the recommendations of the American Academy of Pediatrics, the American College of Obstetricians and Gynecologists and the Academy of Breastfeeding Medicine to abstain from marijuana use during pregnancy and while a mother is breastfeeding.

9 Mar 2021

Virtual clinical trials could transform the development of new drugs

New cutting-edge research undertaken at the University of Leicester could revolutionize the way new drugs are developed and the way patients are cared for, through a pioneering new approach using virtual clinical trials.

8 Mar 2021

SARS-CoV-2 can make itself unrecognizable to immune response by T-killer cells through mutations

The body's immune response plays a crucial role in the course of a SARS-CoV-2 infection. In addition to antibodies, the so-called T-killer cells, are also responsible for detecting viruses in the body and eliminating them.

5 Mar 2021

Study reveals process behind key cellular change in amyotrophic lateral sclerosis

A research team has discovered the trigger of a crucial cellular change in amyotrophic lateral sclerosis (ALS)—a form of motor neuron disease.

5 Mar 2021

Genomics study examines the impact of COVID-19 on care homes

Care homes are at high risk of experiencing outbreaks of COVID-19, the disease caused by SARS-CoV-2. Older people and those affected by heart disease, respiratory disease and type 2 diabetes - all of which increase with age - are at greatest risk of severe disease and even death, making the care home population especially vulnerable.

4 Mar 2021

New software tool enables swift analysis of datasets generated from single-cell sequencing

A new software tool allows researchers to quickly query datasets generated from single-cell sequencing. Users can identify which cell types any combination of genes are active in.

4 Mar 2021

Researchers find effective combination of therapies for managing mitochondrial disease

Researchers have demonstrated how one combination of therapies may be beneficial for patients with mitochondrial respiratory chain disorders.

3 Mar 2021

Automated next generation sequencing platform can accurately screen thousands for COVID-19

A robotics platform designed by researchers to screen many COVID-19 samples at once has the potential to revolutionize how labs track the spread of viruses.

From University of Toronto 3 Mar 2021

New technique reveals the tricks that cancer cells use to avoid immunotherapies

By harnessing the immune system against cancer, immunotherapies have revolutionized the way some types of cancer are treated. But most patients--across cancer types--do not respond, and in most cases, scientists are at a loss as to why.

2 Mar 2021

UChicago-based team shares new details about Genomic Data Commons

The National Cancer Institute's Genomic Data Commons (GDC), launched in 2016 by then-Vice President Joseph Biden and hosted at the University of Chicago, has become one of the largest and most widely used resources in cancer genomics, with more than 3.3 petabytes of data from more than 65 projects and over 84,000 anonymized patient cases, serving more than 50,000 unique users each month.

1 Mar 2021

Researchers identify gene variant associated with childhood asthma

Researchers at Henry Ford Health System, as part of a national asthma collaborative, have identified a gene variant associated with childhood asthma that underscores the importance of including diverse patient populations in research studies.

1 Mar 2021

Increased levels of OAS1 protein may reduce the severity of COVID-19

Researchers at the Lady Davis Institute (LDI) at the Jewish General Hospital have discovered that increased levels of the protein OAS1 are associated with reduced mortality and less severe disease requiring ventilation among patients with COVID-19.

1 Mar 2021

Hospital News and Research

Scientists provide a complete phenotypic landscape of SCN2A-related disorders

Genetic flaw shows promise for treating eye disease

Study reveals substantial difference in selection and timing of genetic tests for non-small-cell lung cancer

Environmental DNA could help better understand grasses that cause allergies

RNA-editing events can reveal the genetic basis of many human diseases

Study demonstrates the contagion effect of weight loss program in relatives of participants

New technique can mitigate the effects of brain injury in preterm babies

Immune cells in cerebrospinal fluid could be biomarkers to predict immunotherapy response

Psychoactive component of marijuana stays in breast milk for up to six weeks, study finds

Virtual clinical trials could transform the development of new drugs

SARS-CoV-2 can make itself unrecognizable to immune response by T-killer cells through mutations

Study reveals process behind key cellular change in amyotrophic lateral sclerosis

Genomics study examines the impact of COVID-19 on care homes

New software tool enables swift analysis of datasets generated from single-cell sequencing

Researchers find effective combination of therapies for managing mitochondrial disease

Automated next generation sequencing platform can accurately screen thousands for COVID-19

New technique reveals the tricks that cancer cells use to avoid immunotherapies

UChicago-based team shares new details about Genomic Data Commons

Researchers identify gene variant associated with childhood asthma

Increased levels of OAS1 protein may reduce the severity of COVID-19

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