Mitochondrial disorders affect around 1 in 4,300 people and cause progressive, incurable diseases. They are amongst the most common inherited diseases but are difficult for clinicians to diagnose, not least because they can affect many different organs and resemble many other conditions. Current genetic testing regimes fail to diagnose around 40% of patients, with major […]
A common form of motor neurone disease, amyotrophic lateral sclerosis, often overlaps with frontotemporal dementia (ALS/FTD) and can affect younger people, occurring mostly after the age of 40-45. These conditions cause devastating symptoms of muscle weakness with changes in memory, behaviour and personality. Being able to grow small organ-like models (organoids) of the brain allows […]
Artificial intelligence could spot the early signs of dementia from a simple brain scan long before major symptoms appear – and in some cases before any symptoms appear – say Cambridge researchers.
Dr Timothy Rittman is the clinical lead of the QMIN-MC trial, which uses a machine learning algorithm developed by Prof Zoe Kourtzi, research lead at the Alun Turing Institute. The algorithm trains itself to diagnose patients by looking at MRI brain scans to identify patterns. It then combines these finding with the results of standard […]
A team of engineers and clinicians has developed an ultra-thin, inflatable device that can be used to treat the most severe forms of pain without the need for invasive surgery.
The study, published today in Nature Genetics, found that genetic variants in the DNA of mitochondria could increase the risk of developing these conditions, as well influencing characteristics such as height and lifespan. There was also evidence that some changes in mitochondrial DNA were more common in people with Scottish, Welsh or Northumbrian genetic ancestry, […]
The Academy of Medical Sciences has elected 50 prominent biomedical and health scientists to its respected and influential Fellowship. The new Fellows have been selected for their exceptional contributions to the advancement of medical science through innovative research discoveries and translating scientific developments into benefits for patients and the wider society. Professor Dame Anne Johnson, […]
Gene therapy – where a missing or defective gene is replaced by a healthy version – is becoming increasingly common for a number of neurological conditions including Leber’s Congenital Amaurosis, Spinal Muscular Atrophy and Leber’s Hereditary Optic Neuropathy. However, each of these conditions is rare, and monogenic – that is, caused by a single defective […]
Researchers discovered changes to 12 genetic regions in the DNA of people who have had a lacunar stroke – a type of stroke caused by weakening of the small blood vessels deep within the brain. Over time, damage to the blood vessels and subsequent interruption to blood flow can lead to long-term disability, causing difficulty […]
Chronic subdural haematoma is one of the most common neurological disorders and mainly affects older people. People affected often have headaches, deteriorating memory, confusion, balance problems or limb weakness. Surgery to drain the liquid collection is effective with the majority of patients improving. A commonly used steroid, dexamethasone, has been used alongside surgery or instead […]