The cause of a rare type of familial epilepsy has been linked to two new gene mutations, as discovered by researchers from the Walter and Eliza Hall Institute. Published back-to-back in Nature Communications, Dr Mark Bennett, Dr Haloom Rafehi and Professor Melanie Bahlo from the Institute made this ground-breaking discovery as part of an international consortium.
The advancement of sequencing technology has had the singe biggest effect on genomics research. As it develops further, so does the scope of genomic research and applications.
New research published in the British Journal of Cancer has identified a link between the so-called “junk DNA” and the risk of developing cancer. Junk DNA refers to regions of DNA that don’t code for proteins but are thought to play in a role in gene expression regulation
Researchers at the Wellcome Sanger Institute uncovered a possible pre-cancerous signature for Wilms’ tumour, a form of kidney cancer mainly affecting children under five years old. Published in Science, the research was the first to compare Wilms’ tumour tissue and healthy kidney tissue to identify any genetic changes that could possibly be predictive of disease progression.
A new study by Northwestern Medicine has become the first to compare gene expression levels in African American populations by studying the levels of mRNA expressed in the liver. Previous studies have compared only African and European individuals separately and this study aimed to address the “grey” area of mixed ethnicities.
The Environmental Determinants of Diabetes in the Young or TEDDY is the largest study of its kind measuring new-borns with an increased risk of Type 1 Diabetes (T1D). The study published in Nature Medicine has uncovered an association between a genetic variant of a pancreatic cell surface-receptor and long-term viral infections.
A set of research papers suggests that some people need less sleep than others based on a few genetic changes. The papers from the neurology team at the University of California, San Francisco (UCSF) identified three genes that researchers can link to needing less sleep
The ongoing debate over the Illumina-Pacific Biosciences merger has come to a head with their competitor Oxford Nanopore rejecting the revised remedies. In documents filed with the UK’s Competition and Markets Authority (CMA) and published online Oxford Nanopore comments on Illumina’s offer and what could be done to restore the market balance.
Mammoth poo is the unlikely source of 40,000-year-old bacteria that has been brought back to life.
Metagenomics, or environmental genomics, is the study of genetic material recovered from the natural environment. Increased environmental pollution is expected to drive the metagenomics market, as tools to enable the rapid spread of chemicals through ecosystems become essential for environmental monitoring. Environmental Genomics As microorganisms are responsible for degradation of environmental pollutants, their DNA […]
Returning for its 5th consecutive year, the 2020 Festival promises to be a unique experience, a crossroads for the entire genomics ecosystem to discover, meet, learn, have fun and celebrate. It is the largest genomics event in the UK and the fastest growing genomics event in the world. The Festival delivers incredible talks, speakers, cutting-edge content, inspirational topics, […]
Our guest contributor Dr Neil Lamb continues his fortnighty Shareable Science Blog. Neil is the Vice President for Educational Outreach at the HudsonAlpha Institute for Biotechnology and Shareable Science will explore how genetics is relevant to people in their everyday lives. Scientists from New Zealand’s Otago University called a news conference in early September 2019 […]
51% of child cancer patients in a recent trial had gene mutations in their tumours that could be targeted by an existing adult cancer drug. However, due to clinical obstacles only 7% were able to receive the relevant drug, raising concerns about the lack of cancer therapies available for children. Treating cancer in children is […]
Digital DNA: Diagnosing Rare Diseases – An Interview with David Bick, Smith Family Clinic for Genomic Medicine
The Digital DNA series explores the role of large-scale genetic testing in science, industry and society. We aim to understand both the benefits and risks of this emerging technology and see what the future may hold. We talked to Dr. David Bick, Clinical Geneticist at the Smith Family Clinic for Genomic Medicine and Chief Medical […]