The largest study on autism spectrum disorders (ASD) to date has identified 102 genes involved in the disorder, including 37 new genes that had not been recognised before. Published in Cell, the findings help researchers better understand the causes of the disorder, and could possible help in developing new drug therapies for children with severe impairments.
Interview with Prof. Diana Baralle, Professor of Genomic Medicine, Honorary Consultant Clinical Genetics, University of Southampton
Dr Diana Baralle is a professor of genomic medicine at the University of Southampton, and an honorary consultant in clinical genetics. She runs a translational research group that drives forward functional genomics to improve diagnosis, investigating novel causes for rare disorders and in particular the role of RNA and splicing in genetic disease.
A cross-section image of the nerve conduit embedded in microspheres. Credit: N.B. Fadia et al., Science Translational Medicine (2019) Researchers at the University of Pittsburgh School of Medicine have created a polymer nerve guide made out of biodegradable material filled with growth-promoting proteins that can regenerate long sections of damaged nerves. Published in Science Translational […]
Researchers at QIMR Berghofer Medical Research Institute and Flinders University, Australia have identified 107 genes associated with increased risk of developing glaucoma. The researchers also developed a genetic test to screen those who are at risk of developing the condition, in the hopes of intervening before symptoms of the disease, such as vision loss, occur.
A new blood test that could predict the onset of tuberculosis (TB) three to six months before people become sick has been discovered by researchers at University College London. The researchers identified gene expression signatures present in the blood of people with early, asymptomatic TB infection that could predict the disease before symptoms arise.
Scientists at the Broad Institute of MIT and Harvard and Dana-Farber Cancer Institute have found that drugs used for inflammation, diabetes, alcoholism, and arthritis also have anti-cancer properties. Published in Nature Cancer, this is the first study to screen an entire collection of mostly non-cancer drugs to see if they can kill cancer cells.
New research from the University of California, Riverside has shown that America’s most widely consumed oil – Soybean oil – can affect neurological conditions such as anxiety, depression, autism, and Alzheimer’s disease. The work builds upon previous studies that have identified a number of health risks associated with the oil, such as obesity and diabetes.
Dr Alfredo Iacoangeli is a post-doctoral researcher at King’s College London whose aim is the development of a high throughput gene, environment and epigenetics database and analysis system for international ALS research. We managed to have a chat with Alfredo ahead of him speaking at the Festival of Genomics about his work, and why he’s excited to be a part of the festival this year.
New research has identified a possible reason why men are more susceptible to cancer than women. The work published in the Journal of the National Cancer Institute reports that the loss of function in certain genes of the sex-determining Y chromosome may play a role in this.
A new discovery by a Japanese team has identified a type of microorganism called an Asgard archaeon, which could shed light on how early eukaryotic cells evolved. The project took 12 years after finding the cells in deep-sea mud. The findings of the closest Archaeal relative to eukaryotes cultures so far will allow further detailed cellular and metabolic investigation and find out more about the origins of complex life.
Researchers at Carnegie Institution for Science, USA have discovered a mechanism in which the body tries to eliminate egg cells of the poorest quality. The findings indicate that this elimination during foetal development is related to a transposable element, or “jumping gene”, called LINE-1 that promotes the survival of eggs with more “jumping gene” activity.
A team of international researchers have conducted a genome-wide association study (GWAS) to identify genes responsible for high population-levels of alcohol consumption. They used genomic data from the UK Biobank and a US study to pinpoint the genes responsible, identifying six loci that could be associated with alcohol use disorder (AUD).
Bioengineers based in the US have designed a “DNA-binding editorial assistant” that will allow gene-editing technology, like CRISPR, to access previously inaccessible genes of interest. The new protein design can be used to open up areas of the DNA that are obscured by chromatin, which would improve CRISPR efficiency and aid in developing more precise gene-editing techniques to combat disease.
Researchers from the Cold Spring Harbor Laboratory (CSHL) and Memorial Sloan Kettering Cancer Center (MSK) have discovered that Acute Myeloid Leukaemia (AML) grows by taking advantage of the B6 vitamin to accelerate cell division. The findings could pave the way for a treatment that can stop cancer growth by manipulating the enzyme that pushes B6 to make proteins essential for cell division.
A genetic variant associated with poor response to a common asthma treatment has been identified in a new study by the Cleveland Clinic. The research team found that a particular gene variant was present in asthmatic patients who were less likely to respond to glucocorticoids and often develop severe asthma.