Aurora magazine

More than 50% of adults with haemophilia or sick relatives support pre-implantation genetic diagnosis and prenatal screening. This was revealed by a survey published by the journal Molecular Genetics & Genomic Medicine.

A team from the University of Warwick in the United Kingdom conducted a study on how those directly involved view genetic tests. The researchers interviewed patients with hemophilia and their relatives, asking them what they think of these tools. At first, they interviewed 22 people, of which 6 were hemophiliac and 3 were affected by Von Willebrand's disease.

They asked them questions about the disease and how they see certain methods of diagnosis. Based on the first interviews, the researchers developed a second questionnaire. This time they have submitted it to 327 people, of whom 75.7% have sick relatives and 24.3% suffer from the disease. About 85% were over 35, 77% had children and 56% were believers. Approximately 57% of respondents declared themselves in favor of pre-implantation genetic screening. About 35% of them said they did not see screening as a form of eugenics. 37% said that the result of genetic testing would not push them to change reproductive partners.

In fact, 45% of hemophilia A patients and 24% of haemophilia B sufferers fear the stigma for healthy carriers. 59% of participants spoke in favor of prenatal screening tests. Why? 69% of them declared "to prepare parents for their child's illness".

Source: hemophilianewstoday.com

Prenatal exposure to large quantities of bisphenol A (BPA), even in levels considered "safe" by law, changes the circadian cycle. This is revealed by a study presented at the annual conference of the Endocrinology Society. According to the researchers, these changes could contribute to the hyperactivity of certain mice. The hypothalamus is an area susceptible to developmental problems caused by BPA.

Inside there is also the so-called biological clock, which regulates the daily rhythms of the whole organism. In utero exposure to the substance may hinder the correct development of the hypothalamus. This causes hyperactivity, probably due to an alteration in the circadian cycle. The researchers divided pregnant animals into two groups, one fed with normal food and the other with food contaminated with small doses of BPA. The young grew together for about 12 weeks, after which the researchers separated them and monitored their sleep-wake cycle for 4 months.

During this time, they measured their ability to adjust their pace based on the environment and stimuli. Babies exposed to bisphenol A were much more active than average, even during periods of time spent in the dark. Their circadian cycle soon disintegrated, as demonstrated by alterations in daily activities. This shows that it takes little BPA to alter the internal clock.

Source: www.endocrine.org

Von Willebrand's disease is an inherited genetic disorder that causes problems related to blood clotting. In many ways it is similar to haemophilia: patients may experience post-operative bleeding and bleeding. The severity varies from case to case, based on the lack of the Willebrand factor, which is necessary for coagulation.

Depending on the factor level, you have the following types:

• type 1, partial;
• type 2 variants, with defects of different types in the factor;
• type 3, total absence of the factor.

The cause is a mutation of the VWF gene, on chromosome 12, which codes for the factor. However, according to the scientists, other genes not yet identified could also be involved. In type 1 and type 2 disease, transmission is autosomal dominant: an altered copy is sufficient for the disease to manifest. In type 3 and in some type 2, the mode is autosomal recessive. Diagnosis is made by analyzing the patient's clinical and family history.

Subsequently, the dosage of Willebrand factor and others involved in coagulation is passed. In many cases it remains rather difficult to pose. Unfortunately, to date there are no solution therapies. Replacement Willebrand factor can help in severe cases, at least to stop bleeding. In milder cases, on the other hand, just dab the bleeding and apply pressure. Furthermore, those suffering from the disease should avoid the use of anti-aggregating and anticoagulant drugs such as aspirin.

Source: telethon.it

Two studies published in Nature Genetics have investigated the genetic basis of clinical insomnia. The disease affects about 1 in 10 people and undermines both physical and mental well-being. Researchers have suspected for years that there was a biological basis, but only recently have they identified some of the causes. From what has emerged, the genes involved would be the same ones that cause heart disease and psychiatric disorders.

The geneticist Danielle Posthuma, of Vrije University in Amsterdam, examined the DNA of over 1.3 million individuals. From this, he identified 202 areas of the genome linked to insomnia. The genes involved are 956, active mainly in brain regions commonly linked to insomnia. Simultaneously, geneticist Richa Saxena of Massachusetts General Hospital analyzed 450,000 genomes. This time the researchers identified 57 DNA regions, which include 236 genes. The results of the tests carried out confirmed what was found in the first study.

There seems to be an overlap between the genes discovered by Dr. Posthuma and those discovered by Dr. Saxena. Both studies highlight a large overlap between genes related to insomnia, genes linked to metabolic defects and genes linked to psychiatric diseases. People suffering from insomnia are often predisposed to depression, anxiety, schizophrenia, type 2 diabetes, coronary heart disease.

The problem therefore appears to be linked to neuropsychiatric disorders and mood regulation. Dr. Posthuma's group aims to increase the sample size. In addition, he is planning laboratory experiments to demonstrate the cause-effect relationship between insomnia and the cells involved. In this way it will be easier to elaborate new treatments, which complement the current cognitive-behavioral.

Source: lescienze.it