An international research team including the University of Adelaide has found further evidence that rare gene mutations can cause cerebral palsy, findings which could lead to earlier diagnosis and new treatments for this devastating movement disorder.
In the study published in the journal Nature Genetics researchers employed gene sequencing to examine the DNA of 250 cerebral palsy families, and compared this to a control group of almost 1800 unaffected families. They then demonstrated the impact rare gene mutations can have on movement control using a fruit fly model.
The findings have important clinical implications. They will provide some answers to parents, as well as guide healthcare and family planning such as counselling for recurrence risk — often quoted as around 1 per cent but could be as high as 10 per cent when factoring in genetic risks.
Co-author of the research, Emeritus Professor Alastair MacLennan, AO, at the University of
For several years, technology companies have dangled the promise of a lidar sensor with no moving parts that is also small and cheap enough to embed on several key places of a vehicle. These robust, solid-state sensors are one of many essential components auto manufacturers need before they unleash self-driving vehicles on the market. But while they’re not the only variable of the autonomous vehicle equation that needs to be solved, lidars are an important—and redundant—tool needed to help vehicles “see” in a range of weather and lighting conditions.
Several Bay Area startups are angling to be the first to bring solid-state lidar to market, and yesterday Ouster became the latest Silicon Valley company to announce that it has developed a compact lidar with no moving parts that can be mass-produced at an affordable price. The catch? Like
Researchers at Karolinska Institutet in Sweden have identified a protein in the brain that is important both for the function of the mood-regulating substance serotonin and for the release of stress hormones, at least in mice. The findings, which are published in the journal Molecular Psychiatry, may have implications for the development of new drugs for depression and anxiety.
After experiencing trauma or severe stress, some people develop an abnormal stress response or chronic stress. This increases the risk of developing other diseases such as depression and anxiety, but it remains unknown what mechanisms are behind it or how the stress response is regulated.
The research group at Karolinska Institutet has previously shown that a protein called p11 plays an important role in the function of serotonin, a neurotransmitter in the brain that regulates mood. Depressed patients and suicide victims have lower levels of the p11 protein in their
An international collaboration of scientists from the UK, Norway and the U.S. have identified genetic evidence supporting a causal effect of smoking and obesity on increasing susceptibility to severe COVID-19 and sepsis.
Published online in Circulation today, the results show that both smoking and higher body mass index (BMI, a measure of obesity) increase risk of severe COVID-19. The same was also true for the risk of developing sepsis, which is a dangerous inflammatory response to infection, experienced by many patients with severe COVID-19.
Confirming the causal connection also highlights that stopping smoking and losing weight can be effective interventions for reducing the risk of developing severe COVID-19 and sepsis.
Led by Dr. Dipender Gill, from St George’s, University of London and Imperial College London, the “Mendelian randomisation” study considered separate datasets of 3,199 patients with severe COVID-19 and 10,154 patients with sepsis. Using genetic