Genomic News and Research

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New guidelines on storage of genomic information, improvements in EHR systems

Advances in genetic and genomic testing technology have not only introduced the utilization of clinical genomic information into virtually every area of medical care, this testing has become an essential tool to achieve the goal of precision medicine.

2 Jun 2020

New detection platform for rapid diagnosis of infectious diseases

The prompt, precise, and massive detection of a virus is the key to combat infectious diseases such as Covid-19.

1 Jun 2020

SARS-CoV-2 emergence could be due to genetic selection and recombination

Researchers have found that genetic selection and recombination could be behind the emergence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that leads to acute respiratory distress syndrome (ARDS) or COVID-19 disease. This research could explain COVID-19 pandemic and its emergence. The study titled, “Emergence of SARS-CoV-2 through recombination and strong purifying selection,” was published in the journal Science Advances.

1 Jun 2020

Scientists identify factors influencing outcomes in kidney cancer patients treated with immunotherapy

By analyzing tumors from patients treated with immunotherapy for advanced kidney cancer in three clinical trials, Dana-Farber Cancer Institute scientists have identified several features of the tumors that influence their response to immune checkpoint inhibitor drugs.

30 May 2020

New genetic engineering technique sets the stage for advances in medicine and beyond

From bacteria-made insulin that obviates the use of animal pancreases to a better understanding of infectious diseases and improved treatments, genetic engineering of bacteria has redefined modern medicine. Yet, serious limitations remain that hamper| progress in numerous other areas.

30 May 2020

Targeted therapy pralsetinib shows high response rates in patients with RET fusion-positive cancers

The targeted therapy pralsetinib appears to have high response rates and durable activity in patients with a broad variety of tumors harboring RET gene fusions, according to results from the international Phase I/II ARROW trial, led by researchers at The University of Texas MD Anderson Cancer Center.

29 May 2020

Addition of monoclonal antibody to trimodality therapy offers no benefit in HER2 over expressing esophageal cancer

Results of the NRG Oncology clinical trial RTOG 1010 indicated that the addition of the monoclonal antibody trastuzumab to neoadjuvant trimodality treatment did not improve disease-free survival outcomes for patient with HER2 overexpressing local and locally advanced esophageal adenocarcinoma.

29 May 2020

Genomic variation and descent of SARS-CoV-2 strains in India

The pandemic of COVID-19 that is still affecting over 188 countries and territories the world over has taken over 359,000 lives in just under five months, while affecting at least 5.8 million people. Different strains have diverged from the original strain detected in Wuhan, China.

28 May 2020

Scientists from gnomAD Consortium release first set of discoveries on human genetic variation

For the last eight years, the Genome Aggregation Database Consortium (and its predecessor, the Exome Aggregation Consortium, or ExAC), has been working with geneticists around the world to compile and study more than 125,000 exomes and 15,000 whole genomes from populations around the world.

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

Target trials provide an ethical way to collect drug exposure data for pregnant people

Out of concern for fetal safety, pregnant people have typically been excluded from drug trials. And when human health is on the line, drug studies assessing fetal safety in animal models may be viewed as far from definitive.

27 May 2020

Methods to move precision medicine from evaluation into practice and policy

Value in Health, the official journal of ISPOR - the professional society for health economics and outcomes research, announced today the publication of a series of articles focused on methods for moving from the evaluation of precision medicine into practice and policy.

26 May 2020

New genomic method helps obtain high-resolution maps of DNA in the cell nucleus

Researchers at Karolinska Institutet in Sweden have developed a new sequencing method that makes it possible to map how DNA is spatially organised in the cell nucleus - revealing which genomic regions are at higher risk of mutation and DNA damage.

26 May 2020

Newly identified gene may have contributed to rapid evolution of COVID-19

An international team of researchers has identified a previously uncharacterized gene within the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genome that may be important in understanding the origins and evolution of coronavirus disease 2019 (COVID-19).

25 May 2020

Novel biomarkers linked to improved outcomes with immunotherapy in metastatic breast cancer

Two novel biomarkers have been found to correlate with improved outcomes with immunotherapy in metastatic breast cancer and may help to identify the patients most likely to benefit from this treatment, according to exploratory studies reported at the ESMO Breast Cancer Virtual Meeting 2020.

22 May 2020

Prediction of incubation period for COVID-19 and other viruses

A new study published on the preprint server bioRxiv* in May 2020 provides a method to estimate the incubation period for any new pathogen, which could help to define the optimal quarantine period necessary to keep the spread of the causative agent in check.

22 May 2020

Environmental chemicals linked to changes in the gut microbiome and health

The microbes that inhabit our bodies are influenced by what we eat, drink, breathe and absorb through our skin, and most of us are chronically exposed to natural and human-made environmental contaminants.

21 May 2020

Scientists create a detailed map of how carcinogens trigger breast cancer development

In the most comprehensive review to date of how breast cancer develops, scientists have created a detailed map that describes the many ways in which environmental chemicals can trigger the disease.

21 May 2020

Researchers receive $5 million to study two types of parasitic infection

Researchers at Washington University School of Medicine in St. Louis have received two grants from the National Institutes of Health totaling more than $5 million to study two types of parasitic worm infection that cause devastating illness in millions of people worldwide.

21 May 2020

Did SARS-CoV-2 adapt to humans long before the index case?

A new study from Canada and the U.S. suggests that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may have already been pre-adapted to human transmission when it emerged in late 2019, which means there may be lingering populations of progenitor SARS-CoV-2 adept for human transmission and coronavirus disease (COVID-19) re-emergence. The research is published on the preprint server bioRxiv in May 2020.

19 May 2020

Genomic News and Research

New guidelines on storage of genomic information, improvements in EHR systems

New detection platform for rapid diagnosis of infectious diseases

SARS-CoV-2 emergence could be due to genetic selection and recombination

Scientists identify factors influencing outcomes in kidney cancer patients treated with immunotherapy

New genetic engineering technique sets the stage for advances in medicine and beyond

Targeted therapy pralsetinib shows high response rates in patients with RET fusion-positive cancers

Addition of monoclonal antibody to trimodality therapy offers no benefit in HER2 over expressing esophageal cancer

Genomic variation and descent of SARS-CoV-2 strains in India

Scientists from gnomAD Consortium release first set of discoveries on human genetic variation

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

Target trials provide an ethical way to collect drug exposure data for pregnant people

Methods to move precision medicine from evaluation into practice and policy

New genomic method helps obtain high-resolution maps of DNA in the cell nucleus

Newly identified gene may have contributed to rapid evolution of COVID-19

Novel biomarkers linked to improved outcomes with immunotherapy in metastatic breast cancer

Prediction of incubation period for COVID-19 and other viruses

Environmental chemicals linked to changes in the gut microbiome and health

Scientists create a detailed map of how carcinogens trigger breast cancer development

Researchers receive $5 million to study two types of parasitic infection

Did SARS-CoV-2 adapt to humans long before the index case?

The art of CRISPR: The power and promise of gene editing eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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