Aurora magazine

Chronic intestinal atrial dysrhythmia syndrome is a rare disease that affects the heart and the digestive system. A team of Canadian scientists has studied geology in Quebec, so as to understand where it develops the most. To do this, they used a software called ISGen that analyzed the DNA of more than 3.4 million people of European origin. In this way they found the roots of the disease in the first French immigrants, who arrived in Canada around the seventeenth century.

Beyond the historical interest of the discovery, the software has identified the regions of Quebec most subject to the disease. ISGen has simulated the different modes of transmission of the rare allele. In relation to the inheritance patterns of alleles, he considered the possible genotypes present in the database. Furthermore, he took into account the frequency of ancestral alleles and observed the genotypes of certain individuals within the genealogy.

Overall, the researchers analyzed genealogical data of about 3.4 million individuals, spread over 17 generations. Geographic information was also available for 2.7 million individuals. The analyzes also used data from the genotypes obtained from a regional project, obtained using the Illumina technology. Thanks to this approach, they traced the allele responsible for the disease.

The scientists followed the path of the offending allele, arriving at two original families. The first carriers of the disease were no more than 5. Today in Quebec the syndrome of chronic intestinal atrial dysrhythmia manifests itself in an individual every 24,025. According to the authors of the study, it is therefore important to concentrate genetic screening in this area.

Source: mcgill.ca

A woman born without a womb has given birth to a healthy child. All thanks to the uterus donated by a mysterious deceased donor. The event occurred in Brazil and is a revolutionary step for the treatment of infertility. It is in fact the first child born from the organ of a dead woman.

Before this there were other uterus transplants that led to childbirth. All the organs were from donors still alive and from 2013 at least 11 children were born in this way. As said, the main difference is that all the transplanted uteri came from living donors. This is the first time that a dead uterus transplant is successful.

From a biological point of view, the organs of a living person and a dead person are not very different. Yet, none of the other 10 uterus transplants performed with dead women's organs were successful. This first victory promises to change the lives of many women who have lost their womb or who were born without. As the protagonist of this story, in fact.

The donor was a 45-year-old woman who died from a stroke, who had three children with natural childbirth. The protagonist of the study, however, was born without a womb. The doctors have implanted the donor's implant with an intervention lasting 10 hours. Then they waited for the woman to start the menstrual cycle, arrived 7 months later, indicating that the organ had taken root. At this point they used in vitro fertilization to start the pregnancy.

The entire long operation ended with a girl of almost 3 kg, born by Caesarean section in December 2017. By now a year after delivery, the baby is healthy and there have not been any unexpected effects.

Source: nytimes.com

Chronic intestinal atrial dysrhythmia syndrome (CAID) is a rare disease discovered only in 2014 and also called "Viking syndrome". It is caused by a rare genetic mutation and affects both the heart and the intestine. The contractions of the two organs are in fact linked to a single gene, which would be the one affected by the disease.

A team of Canadian researchers has developed a diagnostic test for the disease, based primarily on clinical analyzes. In fact, those who suffer suffer heart and intestinal problems, both of a rather serious entity. Heart problems include slow heartbeat, which forces 50% of patients to implant a pacemaker. Instead, digestive problems manifest themselves with chronic intestinal obstructions, which can only be dealt with by intravenous feeding.

For the time being, no less invasive treatments are available. The disease is indeed rather young. Scientists discovered it by analyzing the DNA of some Canadian patients of French and Scandinavian origins. All patients showed both cardiac and gastrointestinal symptoms, related to a mutation of the SGOL1 gene. Studies in guinea pigs with similar symptoms have confirmed the role of the gene in the development of the disease.

According to the researchers, the mutation of SGOL1 is likely to reduce the protection of certain cells in the intestine and heart. When in health, the gene could in fact have the task of maintaining the rhythm of the heart throughout its life. When the mutation is present, the cells begin to multiply uncontrollably and grow older.

Source: umontreal.ca

Two twins born in September in China would be the first genetically modified human beings. This was announced by Professor He Jiankui of the University of Shenzhen, who led the experiment. The scientists used Crispr to make the twins resistant to AIDS. At the moment there are no confirmations from third parties, but the news is still exceptional. Nevertheless there are doubts, both ethical and technical.

Despite its great potential, Crispr is still an imprecise one. Several researchers have questioned the safety of the technique, which could lead to unexpected changes. For this reason, for the moment it is used only on somatic cells and never on reproductive cells. In most countries of the world it is even forbidden to modify the DNA of the embryos. China is not new to such experiments, but it is the first time that a scientist has gone so far.

Professor He Jiankui eliminated the gene that encodes the Ccr5 protein from 7-pair embryos. The protein is the receptor that carries the HIV virus inside the immune cells. Without it, the virus can not infect them and the individual is in fact immune to AIDS. After this first step, he and his team implanted embryos from one of the couples in utero. The pregnancy has progressed and has come to an end.

The experiment would fail in at least one of the twins. The researchers altered only one copy of the gene, so the child is not immune to the disease. As for the other, there are still no certain news.

Source: corriere.it