Aurora magazine

"Are you a healthy carrier of this genetic disease?" It's not really a first date question. Or second or third, for that matter. Yet it could be a crucial question for the possible children of a healthy carrier, who could manifest the disease. For this reason, geneticist George Church of Harvard University is working on an app that determines genetic compatibility.

The application will include all the classic criteria, such as place of residence and hobby. To register, however, it will be necessary to send a DNA sample, which will be used for total sequencing of the genome. In this way, each profile will also include any data on heritable genetic abnormalities. What's the point of all this? Nowadays, it is rare for two people to immediately realize that they are healthy carriers of the same genetic disease. It therefore happens that they decide to have a child without being aware of the risk, with serious consequences for them and for the offspring.

Prenatal genetic tests are used to evaluate the probability that the fetus will manifest the disease, but they only intervene after conception has taken place. Instead, Dr. Church wants to avoid the root problem. Its app will avoid connecting people with the same genetic anomaly. Members will have the security of meeting people without anomalies or, at the most, carriers of anomalies incompatible with their own.

They will therefore not have to worry about passing on terrible genetic diseases. At most, they will use the fetal DNA test to detect any sporadic chromosomal abnormalities, such as Down syndrome.

Source: washingtonpost.com

Thanks to the English health service, total genetic sequencing is now available to thousands of babies. The test serves to facilitate the diagnosis of some of the most common rare diseases, so as to intervene from the first hours. This could change the lives for the better of hundreds of babies and children, allowing them to immediately receive ad hoc care.

Total exome sequencing has become routine since October and has already helped dozens of small patients. NHS - England estimates for the new year are even more positive: the test could help over 700 children in 2020 alone. This particular type of genetic test in fact doubles the chances of diagnosing a genetic anomaly. It takes just a few days to get the results, reducing the time significantly.

How is this particular type of sequencing different? Classic tests focus on genes linked to particular genetic diseases. The total sequencing of the exome, on the other hand, examines a wide range of risky variations in one go. The test can identify rare neurological and metabolic diseases, as well as other conditions caused by genetic mutations. One of the most emblematic cases is that of little Henry, son of Lauren Dunn.

The baby was born prematurely and sent to intensive care. Here, doctors have identified a number of problems unrelated to premature birth and unexplained. Total sequencing provided a diagnosis in less than a week: Costello syndrome. This allowed doctors to provide the child with treatments tailored to his illness.

Source: independent.co.uk

Little Camilla is four years old and suffers from a genetic disease unique in the world. Doctors were unable to comment on it and therefore to provide effective treatment that seriously counteracted the disease. Until the clinical case has reached a team of researchers from all over Italy. Scientists used genetic screening and editing techniques to develop a tailor-made treatment for Camilla.

When Camilla was born in 2015, neonatal screening immediately made it possible to diagnose cystic fibrosis. Unlike other children, however, Camilla showed an unprecedented and difficult genetic profile to decipher. This foreshadowed a sad future for the girl, who needed ad hoc treatment that did not exist. The turning point came after a television appearance by the researcher Luis Galietta, from the Telethon Institute. Man has been working on cystic fibrosis for over twenty years and is one of the great experts in the field.

The girl's parents contacted the researcher and asked for help for her daughter. He immediately set up a multidisciplinary task force to study Camilla's mutations. The researchers found that one of Camilla's mutations makes her insensitive to the drugs used usually. They then contacted the Italian Medicines Agency to request the administration of a different drug, usually used for other diseases. AIFA has authorized the treatment for six months, after which it will evaluate whether to continue.

Source: repubblica.it

A low fat, high egg whites diet could be the key to improving male fertility. Dr. Karma Pearce and Professor Kelton Tremellen have identified a link between diet and testosterone levels. According to the study, nutrition also affects the production of this hormone, improving or worsening fertility.

Researchers have proven that eating too much fat, including healthier ones, reduces testosterone levels. On the other hand, egg whites and milk proteins have the opposite effect.
This could therefore help the many men who cannot conceive. According to the World Health Organization, about 20-30% of couples' infertility cases are related only to male factors.

The researchers tested the effects of different nutrients on testosterone production. Immediately after taking large quantities of fat, testosterone levels drop for a minimum of 5 hours. The phenomenon also occurred with healthy fats such as olive oil. The discriminant is not the type of fat, in fact, but the quantity of the same. Another food that influences testosterone production is egg white. Consumed alone, it stimulates testosterone production. Together with fats, on the other hand, it reduces their negative effects and keeps hormone levels stable.

The researchers also tested its effects in combination with other foods, such as fruit juices and flours. Scholars focused on how the diet affects the hormone, but did not examine the quality of the sperm. Nonetheless, testosterone levels are linked to sperm production. As a result, researchers are convinced that certain types of nutrition could really affect sperm health and the chances of conceiving.

Source: news-medical.net