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Aurora magazine

Genetic testing explains some mysterious deaths among the Amish

Thanks to a genetic test, Dr. Michael Ackerman solved a mystery that plagued two large Amish families. Both groups had in fact been hit by some sudden deaths, apparently without explanation. The victims were always very young people, always deceased following a sudden cardiac arrest. Four of these were brothers who died while exercising.

The doctor and his team analyzed the DNA of the young victims through a molecular autopsy of the exome. They then intertwined the data with that collected from the families' anamnesis. The history of families revealed a large number of similar cases, which immediately made one think of an inherited disease.

Since the parents of the boys had never had problems, the genetic variant had to be recessive. This made it possible to narrow the field. All the dead boys had the same variant in the RYR2 gene, also common among distant relatives affected by the same fate.

The researchers compared the DNA of these boys with a second Amish family, completely disconnected from the first but affected by the same misfortune. Genetic tests identified the same variant in 23 family members, of which 18 died at a young age. The study could avoid many other tragedies in these families. By identifying healthy carriers of the diseased gene, it will be possible to identify people at risk and move accordingly once adults.


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The app that determines genetic compatibility is born

"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.


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Little Camilla has received tailored treatment

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.


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The baldness gene has been found

A team from China Agricultural University has identified the genetic cause of hereditary baldness. Hair loss would be the gene that codes for the Map2 protein, the architect of our hair. When the gene doesn't code as it should, the hair thins out and starts falling out. Thanks to the discovery, in the future we will perhaps be able to stop the whole process.

The researchers used pigs as models, being animals with a biology similar to that of humans. To this end, they selected both specimens with alopecia and specimens without this problem. They compared the follicles in the two groups, thus discovering that the second ones had far greater follicle density. After that, they went on to analyze the genetic differences in the two types of specimens.

Thanks to DNA sequencing, scientists have identified a genetic mutation found only in pigs with alopecia. The animals in question showed an anomaly within the gene that codes for the Map2 protein. The malfunction of the protein causes the thinning of the follicles during the development of the embryo. The remaining follicles fail to develop in the right way, which results in weaker hair and subject to falling out.

The study in question links Map2 protein to follicle formation for the first time. Further studies could lead to "fix" the abnormal protein, effectively treating baldness. Genetic editing techniques could be used to repair the damaged gene, stimulating the development of new follicles. Until then, however, you will have to be patient.


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