A collaborative fine-mapping study from researchers across more than 450 departments worldwide has found five times more genetic variants to be associated with breast cancer than previously thought. The most comprehensive map of breast cancer risk variants to date identified 352 DNA errors that are associated with breast cancer with “reasonable confidence”, and target 191 genes, five times more than were previously recognised.
Scientists at Seattle’s Fred Hutchinson Cancer Research Centre have used a CRISPR-based tool to identify the role of ultra-conserved elements in DNA in blocking the growth of tumour cells and keeping healthy cells growing. Published in Nature Genetics, the research found the importance of these ultra-conserved elements that have remained identical between species, such as humans and mice, over millions of years and showed how essential they are in maintaining a healthy cell.
New research on nonhuman primates has found that a single dose of antibody-based treatment can prevent HIV transmission from mother to baby. Published in Nature Communications, this research is the first to find that a single dose of broadly neutralising antibodies given after viral exposure can prevent SHIV infection in nonhuman primate new-borns.
Researchers at Tufts University, USA have discovered a mechanism that could be used to develop therapeutic strategies to reverse the genetic expansion causing Friedreich’s ataxia. Published in the Proceedings of the National Academy of Sciences, the researchers report that the triplet expansion of DNA that causes the disease could potentially be reversed by targeting the process of DNA replication that naturally contracts the expansion in living tissue.
Interview with Dr Susie Cooke, Head of Medical Genomics at the Glasgow Precision Oncology Laboratory
Dr Susie Cooke is the Head of Medical Genomics at the Glasgow Precision Oncology Laboratory whose main interest is in facilitating the move of next-generation sequencing into the clinic to help cancer patients.
Get past the hype and bias in sequencing vendor marketing materials, and get an unbiased, highly informed view from a highly qualified professional whose job it is to evaluate sequencing technologies for a world leading healthcare and research institution – the Mayo Clinic. Get a base- to high-level understanding of the sequencing process, to give […]
Scientists at Navega Therapeutics in San Diego, California have discovered a way to target DNA to stop pain signals being sent and eliminate pain. In an article published by Pharmafile, the treatment could be available in five years to help sufferers of chronic pain or with long-term pain problems.
A program to analyse the diverse genome of 10,000 protists, some of which can cause diseases such as malaria and sleeping sickness, has been launched by six Chinese research institutions to establish a large-scale database of protists genetic resources.
Researchers have investigated the use of PET imaging to see whether beta-amyloid and tau can predict subsequent brain atrophy in Alzheimer’s disease. Published in Science Translational Medicine, the findings showed that tau tangles could be used to predict how much shrinkage will occur and where, which was particularly strong in younger patients.
Earlier this week, He Jiankui, the scientist behind the world’s first gene-edited twin babies, was sentenced to three years in prison and fined three million yuan (£327,000) for “illegal medical practice”. In late 2018, He Jiankui along with his team carried out CRISPR gene editing on twin girls, dubbed Lulu and Nana, to provide immunity against HIV.
Researchers at Newcastle University, UK have been the first to confirm that fat over-spills from the liver into the pancreas can trigger Type 2 diabetes. Published in Cell Metabolism, the researchers observed the link between excess fat within both the liver and pancreas and the development of Type 2 diabetes, and how this condition can be reversed.
Researchers at the German Centre for Neurodegenerative Diseases (DZNE) and the University of Bonn have investigated the use of artificial intelligence to detect one of the most common forms of blood cancer – acute myeloid leukaemia (AML) – with high reliability. Published in iScience, the technique was used to analyse the expression of certain genes in cells of the blood.
Researchers at Penn Medicine have developed an imaging technique that can provide a non-invasive characterisation of tumour heterogeneity. They used Magnetic Resonance Imaging (MRI) and radiomics – an emerging field of medicine that uses algorithms to extract large amounts of features from medical images
Scientists have developed a new genetic risk score that is similarly or more predictive than commonly known risk factors for stroke. They developed this meta-scoring approach model to identify individuals at a 3-fold increased risk of developing ischaemic stroke – one of the leading causes of disability and death world-wide