About 80% of children with autism spectrum disorders suffer from insomnia. Why has always been a mystery, just like the very cause of the disorders. A new study by Washington State University may have found the cause of these sleep disorders. If confirmed, they could develop new treatments to alleviate this problem. There is a link between sleep disorders and severity of autism spectrum disorders.

Scientists think that by solving the former they could at least alleviate the latter. In fact, children who sleep well have fewer problems in terms of communication and social interaction. For this reason, the authors of the study looked for the genetic causes of insomnia in those suffering from autism. Sleep problems in these patients appear to be linked to a mutation in the SHANK3 gene.

The gene regulates the sleep-wake cycle and, when absent or altered, causes insomnia. The researchers then analyzed data from some patients with Phelan-McDermid syndrome. The disease is linked to autism and many patients lack the SHANK3 gene. These find it hard to fall asleep and tend to wake up during the night. To confirm the discovery, the researchers compared guinea pigs with the mutation and guinea pigs without the mutation.

The mice in the first group took much longer than the average to fall asleep. Moreover, they slept worse. Now they will have to understand the molecular mechanism behind the problem, so as to develop an effective therapy.

Source: wsu.edu

A team of researchers from San Diego applied a machine learning algorithm to genetic screening. The goal was to speed up and improve the diagnosis of some rare genetic diseases. In this way it will be easier to intervene quickly, especially in the case of babies in intensive care.

The study was conducted in collaboration with Illumina. Dr. Kingsmore's team used genetic sequencing on infants and children in intensive care. All patients were in severe condition, requiring immediate intervention. To intervene in the right way, however, a diagnosis as precise as possible was needed. So here comes the algorithm. The new technology reduces the need for human intervention in the analysis of genetic data. This reduces the time and cost of the intervention, giving reliable results over 19 hours. All from a simple blood sample, which contains all the genetic material necessary for total sequencing.

The key components of the technology come from Illumina, a company specializing in prenatal screening tests and genetic tests. These work with machine learning systems, which learn how to interpret the data available to them better and better. To make this possible, the researchers entered data from the medical literature into the system.

The algorithm evaluates them and compares them with the data obtained from sequencing, providing the possible answers. It takes about 5 minutes. The new algorithm does not replace human experts, but simplifies the work. Widely applied, it could save the lives of thousands of children with genetic diseases.

Source: radygenomics.org

Jo Cameron is 71 years old and does not know what pain is. Due to a rare genetic mutation, the woman does not feel pain and is unable to feel stress. This led her to collect broken limbs and burns of various kinds, caused by the inability to stop in time. Nevertheless, he began to investigate this strangeness only after the age of 65, following a surgical operation. Now his mutation could lead to the creation of new painkillers for those suffering from chronic pain.

The first to realize that something was wrong was Devjit Srivastava. The doctor noted that the woman had several signs related to arthrosis, now in a very advanced stage. Nevertheless he did not show the slightest pain and walked despite the deteriorated hip joint. The doctor reported the case to the geneticists of UCL in London, who studied the woman's high pain threshold.

Geneticists have discovered two important mutations in Jo Cameron's DNA, which suppress pain and anxiety. At the same time, they increase happiness and accelerate wound healing. The first mutation is quite common and concerns the FAAH gene. The second one is much more particular: the woman lacks the gene that controls FAAH. As a result, it produces high levels of anandamide, the substance that reduces pain and increases forgetfulness.

It is likely that the woman inherited the mutation from her father. Now researchers are looking for a way to mimic its effects, so as to treat those suffering from chronic pain.

Source: repubblica.it