Aurora magazine

The twenty-one Emma attends the faculty of Molecular Sciences in Trento, placed on the social photos taken in the laboratory, dreams of becoming a researcher. A story like so many, it was not that Emma suffers from Friedreich's ataxia and was written to the university just to study it. The affair has moved an entrepreneur in the area, convincing him to donate 336 thousand euros for research.

There are no definitive therapies for Friedreich's ataxia and, over time, those who suffer from it lose the ability to move independently. Emma has been aware of this since she was 12, the age in which she was diagnosed with the disease. Nevertheless, the girl did not give up and put herself on the line. She enrolled at the Integrated Biology Center of the University of Trento, so as to find new treatments for herself and for those who share her fate.

The story of Emma has moved the entrepreneur Gino Del Bon, whose granddaughter suffers from Cornelia de Lange Syndrome. Man knows well the difficulties of those suffering from a rare disease: he could not stay with his hands in his hands. For this reason, he joined the crowfunding campaign on the genomic corrector launched by the university, personally donating 336 thousand euros. Even the family of Emma has decided to get involved.

The parents of the girl have created the association "Every day for Emma", forging a collaboration with the association "For the smile of Ilaria Montebruno". Together they donated € 345,000 to the University of Trento, to study Friedreich's ataxia and other rare genetic diseases. To these were added € 112 thousand donated by many Trentino and people from all over Italy.

Source: corriere.i

Researchers at Trinity College Dublin have for the first time created a model of mitochondrial epilepsy. Thanks to the discovery it will be easier to create new treatments for the disease, one of the most widespread forms of genetic epilepsy.

It is estimated that only in Ireland about 1 new born every 9,000 suffer from this form of epilepsy. It is about a quarter of those suffering from mitochondrial diseases in general. Yet, however widespread, there are no definitive therapies against mitochondrial epilepsy. Conventional drugs also tend to be less effective, which complicates the lives of those who suffer from them. Furthermore, there are no animal models that allow us to study their mechanisms. The lack of models for studying mitochondrial epilepsy is one of the major problems.

That's why the Trinity researchers are committed to developing one in vitro. To this end, they applied special mitochondrial inhibitors to a mini brain. The model obtained presents all the characteristics of the disease and has revealed several previously unclear points. Until recently it was believed that astrocytes played only a supporting role in the brain.

Researchers have shown that they play a central role in mitochondrial epilepsy. The GABA receptors regulate the chemical transmitters released by the neurons, then transported by the astrocytes. When a deficiency of one of the components of this cycle occurs, glutamine, the transmission of the transmitters fails. This perhaps causes epileptic seizures.

It is just a first step and there are still many things to explain. Nevertheless, the creation of a model to be used in research is already fundamental in itself.

Source: tcd.ie

Researchers at the University of Montreal have reduced the chromosomal abnormalities of a sample of mouse embryos. This is an unprecedented discovery that could improve current in vitro fertilization techniques. In fact, the anomalies, even when they do not translate into real diseases, reduce the chances of success of IVF. About 50% of the embryos generated by in vitro fertilization contain chromosomal abnormalities.

The most widespread are aneuploidies, or cells with an abnormal number of chromosomes. This anomaly is thought to be the leading cause of infertility, but the mechanisms are not yet known. The study in question managed to explain at least part of it. Part of the aneuploidy could occur during the so-called "assembly of the mitotic spindle". By manipulating this mechanism with drugs, it is possible to reduce the likelihood of anomalies by 50%. To this end, the researchers administered a drug called proTAME to embryos.

Those treated in this way have developed far fewer cells with an abnormal number of embryos. The discovery opens up a new range of possibilities for human beings, despite being in the early stages. Nevertheless, before working on human embryos, further study and analysis of all possible implications must be carried out. We do not know what the long-term consequences could be and if, over time, treatment could give rise to new problems.

Source: medicalxpress.com

Researchers at the Karolinska Institutet created a puzzle composed of 4 different DNA analyzes. This allowed them to map three rare chromosomal aberrations, first without a diagnosis. The study gave an answer to the families of four children suffering from very serious symptoms, yet without obvious cause. The next step will be to create a genetic test for use in the clinical setting.

About 1 in 500 people are carriers of balanced chromosomal aberrations: the genetic makeup is intact, but some pieces are in the wrong place. Not always these aberrations have obvious consequences, but in some cases cause infertility or increase the risk of transmitting genetic abnormalities to the children. Precisely for this reason, Dr. Anna Lindstrand has led a study on rare genetic diseases caused by chromosomal aberrations.

For two years, the team has followed three people with serious problems since childhood. Despite careful genetic analysis, nothing came up at first. Researchers knew that there were irregular chromosomes, but they had no idea how to recognize them. To obtain high-resolution images of the chromosomes, they then used a new sequencing technique.

The researchers combined the results of previous tests, creating a genetic puzzle. They thus obtained the image of the altered chromosomes present in the three patients, due to their symptoms. The aberrations are so rare that they are unique, which has made them even harder to find.

The study gave an answer to the families involved. Above all, it allowed us to obtain a method that could be used on hundreds of other chromosomal aberrations.

Source: medicalxpress.com