Behind some cases of heart attack, stroke, infertility and kidney disease you could hide genetic diseases still undiagnosed. Researchers at Vanderbilt University Medical Center have found a way to search for genetic data in electronic medical records. In this way it will be easier to identify the presence of genetic diseases in large sections of the population.

The discovery could have important repercussions on the choice of treatments. It is estimated that 14% of those with a genetic variant that affects the kidneys have undergone a transplant. The same is true for a 10% of people with a variant that affects the liver. If doctors had all the necessary information, it would be possible to avoid poorly useful transplants and to focus on other treatments.

The team of Professor Josh Denny searched 21,701 medical records of sets of symptoms related to certain genetic variants. He then scored a score based on his proximity to one of the 1,204 diseases taken into consideration. The higher the score, the more likely the patient would suffer from that genetic disease.

The procedure allowed researchers to isolate dozens of possible cases of undiagnosed rare diseases. Among these, they identified 18 associations between genetic variants and risk score. The discovery also provided new data regarding the nature of some inherited genetic diseases.

According to the researchers, many otherwise inexplicable problems could be related to genetic diseases. Once diagnosed the eventual pathology, finding an ad hoc treatment becomes easier. For this reason, the newly developed process could positively change the lives of many people.

Source: news.vanderbilt.edu

Researchers at the University of Edinburgh have created a map of intelligence genes. It is the most extensive study on this topic and could start real genetic tests of intelligence. Researchers have already used the map to identify 7% of the differences between their intelligences.

Dr. David Hill and Professor Ian Deary started from the genome of 240,000 people in the world. They compared the genetic characteristics of individuals with their results in intelligence tests. In this way they identified 538 genes distributed in 187 regions of DNA. In 2017 a Dutch team had done a similar study, involving 60,000 adults and 20,000 children. On this occasion only 52 genes were identified, thus less than one tenth.

The Scottish study has unveiled that the intelligence genes are also linked to other biological processes. For example, some of these are associated with longevity or migration of nerve cells in various areas of the brain. This would prove the presence of a very close link between intelligence and biological processes.

It was already known how environment and culture can be decisive in the intellectual development of a person. We now also know that physical conditions, health and intelligence could be related. These three factors seem to share at least some of the same genes. The next step will be to determine the degree and type of intelligence of an individual from his DNA.

Source: ansa.it

Insomnia is a problem affecting millions of people around the world. A study by psychiatrist Murray Stein has confirmed that this condition is hereditary. People suffering from insomnia often have a genetic mutation that makes it harder to fall asleep.

For many years, scholars believe that insomnia has genetic causes. Studies on twins have confirmed this theory 10 years ago. Nevertheless, no one has ever identified the genetic factors responsible for this condition. To answer this still open question, Dr. Stein's team analyzed the DNA of 33,000 soldiers.
Genome analyzes have shown a link between insomnia and anomalies in specific regions. In particular, mutations in chromosome 7 and chromosome 9 appear to be the most likely causes.

According to the team, the variant on chromosome 7 also involves the AUTS2 gene, linked to excessive alcohol consumption. In addition, subjects of European ancestry have shown a link between sleep disorders, depression and diabetes. All of these problems could have common genetic causes.

There are still many things to be clarified, but it is clear that insomnia has genetic causes and that these are hereditary. The confirmations come from a series of different studies. That of Dr. Stein has indeed placed on the wake of a research last year. In that case, the researchers had analyzed the DNA of 110,000 individuals. They identified genes related to insomnia, anxiety, depression and other psychiatric problems.

For now, the researchers claim to have identified 956 genes involved in insomnia problems. However, other studies will be needed to dig deeper.

Source: sciencealert.com