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Mitochondrial disorders affect around 1 in 4300 people and cause progressive, incurable diseases. They are amongst the most common inherited diseases but are difficult for clinicians to diagnose, not least because they can affect many different organs and resemble many other conditions. Current genetic testing regimes fail to diagnose around 40% of patients, with major […]
With mask wearing and social distancing on the decline and the cold and flu season upon us, researchers have developed a viral panel that enables the simultaneous testing for SARS-CoV-2 along with numerous common respiratory viruses, that tells us whether other viruses also are at play in patients hard hit by COVID. This new genetic […]
A new study from Uppsala University shows that whole-genome sequencing increases the precision of genetic studies, which in turn can improve our understanding of how to use biomarkers to discover disease. The results are published in the scientific journal Scientific Reports. Biomarkers, such as specific proteins circulating in our blood stream, are often used in […]
The McDonnell Genome Institute at Washington University School of Medicine in St. Louis is entering a new era of genomic medicine, expanding its capacities beyond genome sequencing and adding a new and vital focus on understanding how genetics influences health and disease. Jeffrey Milbrandt, MD, PhD, recently appointed executive director of the McDonnell Genome Institute, […]
Clinical and research teams at Oxford University Hospitals (OUH) NHS Foundation Trust, using infection prevention and control best practice, whole genome sequencing and electronic patient data, have halted an outbreak of a potentially deadly fungal pathogen after detecting that multi-use patient equipment was responsible. The breakthrough at the John Radcliffe Hospital is significant as this […]
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 […]
A new diagnostic test developed at A*STAR is helping researchers around the world identify gene mutations that put people at risk of severe eczema and other chronic skin diseases. The skin’s outer layer forms a protective barrier against the external environment, thanks to a gene called FLG. People lacking a functional copy of this gene, […]