By including multi-ethnic participants, a largescale genetic study has identified more regions of the genome linked to type 2 diabetes-related traits than if the research had been conducted in Europeans alone. The international MAGIC collaboration, made up of more than 400 global academics, conducted a genome-wide association meta-analysis led by the University of Exeter. Now […]
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Sustained Long-Term Benefit of Gene Therapy for SMA
For children with spinal muscular atrophy (SMA), gene therapy with onasemnogene abeparvovec (Zolgensma, Novartis) provides long-lasting benefits with a favorable safety profile, new long-term follow-up data show. At a median of 5.2 years since receiving the approved therapeutic dose, onasemnogene abeparvovec provided “sustained, durable efficacy, with all patients alive and without the need for permanent […]
Researchers explore how N501Y mutation in SARS-CoV-2 increases viral transmissibility
Researchers at Erasmus University Medical Center in The Netherlands have explored how and why new variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of coronavirus disease 2019 (COVID-19), have exhibited heightened infectivity. Study: Experimental evidence for enhanced receptor binding by rapidly spreading SARS-CoV-2 variants. Image Credit: Design_Cells / Shutterstock They suggest […]
The origin of SARS-CoV-2 furin cleavage site remains a mystery
The ongoing pandemic of coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has largely defied attempts to contain its spread by non-pharmaceutical interventions (NPIs). With the massive loss of life and economic damage, the only way out, in the absence of specific antiviral therapeutics, has been the development of […]
Study offers new protocols for high-quality SARS-CoV-2 genomic sequencing
In late-December 2019, the coronavirus disease 2019 (COVID-19) was first detected in Wuhan City, China, causing an easily transmissible respiratory illness. By March 2020, the World Health Organization (WHO) declared its outbreak a global pandemic. Caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), COVID-19 has infected over 107.48 million people globally. To date, […]
History of Next Generation Sequencing
Next generation sequencing (NGS), often referred to as massively parallel sequencing or deep sequencing, refers to a DNA sequencing technology that enables sequencing of millions of small DNA fragments in unison. This generates a massive pool of data and NGS has revolutionized genomic research studies. The data created can reach gigabytes in size (the equivalent […]
Experts predict 125,000 fewer COVID deaths if 50% of U.S. population initiate vaccination by March 1
A new report combining forecasting and expert prediction data, predicts that 125,000 lives could be saved by the end of 2021 if 50% or more of the U.S. population initiated COVID vaccination by March 1, 2021. "Meta and consensus forecast of COVID-19 targets," developed by Thomas McAndrew, a computational scientist and faculty member at Lehigh […]
Team plucks needle from genomic haystack, finding essential transcription factor binding sites
Using CRISPR/Cas9 knockout screens a multi-institutional research team systematically interrogated the essentiality of more than 10,000 forkhead box protein A1 (FOXA1) and CTCF binding sites in breast and prostate cancer cells, plucking useful needles from a massive genomic haystack that contains millions of transcription factor binding sites. They found that essential FOXA1 binding sites act […]
Genomic ‘map’ reveals not all fat is equal
It’s not just about how much—the location of where fat is stored in the body can have significant implications for human health. A new study compared fat cells from under the skin and from the harmful fat inside the abdomen, creating the first comprehensive genomic map that reveals unique features, which appear to ‘hard-wire’ different […]
Rapid genomic sequencing to diagnose critically ill children with rare diseases
A multidisciplinary team at KK Women’s and Children’s Hospital (KKH) has developed a test to enable faster diagnosis of rare diseases to help critically ill children. Rapid genomic sequencing or RapidSeq of critically ill children in the neonatal and children’s intensive care units is a test, the first of its kind in Singapore, to provide […]