Researchers at University of California San Diego School of Medicine have discovered a genetic variation that influences the expression of the mutant CFTR protein on the cell surface of Cystic Fibrosis sufferers.
Computer scientists at the Carnegie Mellon University in Pittsburgh have developed a digital method to transform massive amounts of gene expression data into something more image-like. Published in the Proceedings of the National Academy of Science, the scientists utilised an incredibly powerful deep learning method that has revolutionised methods such as facial recognition in recent years.
The immunotherapy drug Blinatumomab has shown to be an effective treatment for children and young adults with relapsed B-cell acute lymphoblastic leukaemia in a clinical trial led by the Children’s Oncology Group, part of the National Cancer Institute USA, and presented at the annual meeting at the American Society of Haematology.
Researchers at Lancaster University have been the first to discover a genetic alteration that increases the risk of developing Autism Spectrum Disorder and Tourette Syndrome, as published in the journal Cerebral Cortex. Their findings suggest that ketamine, or related drugs, may be a useful treatment for both disorders.
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.
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 research paper has investigated the link between the BAZ1B gene and self-domestication of humans. The same gene has been found to control much of human facial development and be involved in the domestication of dogs and cats, possibly suggesting that humans are self-domesticated.
The analysis of rare genomic copy number variants (CNVs) in siblings of a proband with autism spectrum disorder (ASD) could be used to predict the likelihood of developing ASD themselves, according to an article published today in Nature.
In late 2018, the world was shocked by the news of the birth of the first CRISPR gene edited twin babies. Chinese biophysicist He Jiankui carried out an experiment to create babies with a natural resistance to HIV by editing the CCR5 gene, known to play a role in the immune response.
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.
Brain networks associated with suicide have been identified by examining brain images from the past two decades. The study published in Molecular Psychiatry found changes in the prefrontal cortex were important risk factors in suicidal thoughts and behaviours. 800,000 people die globally by suicide every year – one every 40 seconds. It is the second […]