An international team of researchers has assembled a human genome using just the remnants of a piece of birch tar—last chewed some 5,700 years ago. Scientists have pieced together quite a bit about the person’s life using DNA left in the tar, learning about everything from her diet to certain diseases she carried.
Dozens of rare DNA variants have been identified in the largest genetic study of human height in an Asian population. The genome-wide association study (GWAS) highlighted some of the similarities and differences that play a role in determining height in different parts of the world.
Researchers at Michigan Medicine have found that a naturally occurring protein called Sestrin can mimic many effects of exercise in flies and mice. Published in Nature Communications, understanding the function of this protein could help scientists combat muscle wasting due to aging and other causes.
A research team from Lewis Katz School of Medicine at Temple University (LKSOM) and Fox Chase Cancer Centre found that in prostate cancer, a mutation leading to the loss of just one allele of a tumour suppressor gene known as PPP2R2A is enough to make a tumour caused by other mutations worse.
A genome-wide analysis of nearly 200,000 military veterans has identified six genetic variants linked to anxiety. This is the largest genome-wide association study (GWAS) to date, and has given insights into how people may be pre-disposed to anxiety disorders and provides further explanations for why anxiety and depression often coexist.
Dr Rona Strawbridge has been using genetics to try to understand complex diseases, who’s work has focused much on obesity, type 2 diabetes and cardiovascular disease, and more recently serious mental illness. We managed to have a chat with Rona ahead of her speaking at the Festival of Genomics about her work and why she’s excited to be speaking at the festival this year.
Researchers at the Seattle Children’s Hospital in Washington have identified variants in the ZNF292 gene that could contribute to the development of autism. The study built upon previous work that linked the ZNF292 gene to intellectual disability, and has now identified multiple variations in the gene that could be responsible.
A preliminary study by researchers at Uppsala University, Sweden has found that losing just one night of sleep may increase levels of tau – a biomarker for Alzheimer’s disease. This study found levels of tau were increased in the blood of young, healthy men who were deprived of just one night of sleep, and could contribute to developing the disease later in life
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.