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.
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 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.
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.
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 […]
Researchers at the Roslin Institute who cloned Dolly the sheep in 1996 are looking to create gene-edited squirrels for eventual release into the wild. This decision comes as an aim to save UK native red squirrels from North American native grey squirrels, which have seen a decrease in number since the grey’s arrival.
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.
Genetic and genomic testing has been a hot topic in the healthcare industry in recent years. The NHS has introduced a Genomic Medicine Service (GMS) in an aim to ensure equitable access to genetic and genomic testing and integrate this into routine NHS care by 2025, driving more personalised treatments for patients in the process.
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.
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