Aurora magazine

Adrenoleukodystrophy is a rare genetic disease. The most common form is that linked to X chromosome and affects the nervous system. To date, the most effective therapy is the stem cell transplant of a healthy brother.

There are three forms of adrenoleucodistrophy.

• The cerebral form. It strikes during childhood and the first symptoms include behavioral disorders and learning deficits. The child has difficulty read, write, understand what is said to him. With time it causes disturbances of sight, hearing, and movement.
• Adrenomyeloneuropathy. It appears between 20 and 30 years with rigidity and weakness of the legs. Genital and urinary tract disorders are common, as well as neurological disorders. Many of those who suffer from it also manifest adrenal insufficiency.
• Addison's disease. The first symptom with which it is manifested is adrenal insufficiency. It usually does not have neurological effects and may appear in both infancy and adult life.

X-linked adrenoleucodystrophy affects almost only children. Females are usually healthy carriers, although some people show symptoms similar to andrenomieloneuropathy. However, it is difficult to draw a clear picture, as the disease presents a high degree of clinical variability.

The first form of the disease is inherited. It is caused by a mutation of the X-ALD gene, which is in the X chromosome. However, there are cases of sporadic transmission, where the anomaly occurs for the first time in the patient. Diagnosis is by clinical observation, instrumental and laboratory examinations. If family cases are known, the genetic test for prenatal diagnosis is also available.

For the infant cerebral form, the most effective treatment is marrow transplantation. Transplantation is necessary in the early stages of the disease. Gene therapy may also be available in the future, but studies and trials are still ongoing. Unfortunately, there is no resolving therapy: it can improve the quality of life of the patient, but it does not cure it.

Source: telethon.it

The Telethon Foundation has launched a crowdfunding to help families with children with rare genetic diseases. Within six weeks, the initiative raised 58,000 euros. The money will go to the "Come home" support program.

"Home like" is a support program for families with children affected by rare diseases. Every year, thousands of children from all over the world come to the San Raffaele Telethon Institute in Milan to undergo gene therapy. Parents and brothers accompany them, forced to leave home for long periods and to return to Milan regularly for checks.

The idea of ​​the initiative is to help these families from all over the world feel at home. The Telethon Foundation helps parents and children to settle down and build their own nest. This way, they can experience therapy with greater serenity and no side-effects. The serene climate and family proximity are also beneficial to the success of the treatments.

The campaign is called "Go Away" and started last September 11, ending on Sunday, October 15. Telethon has thus accompanied the children in their return to school, a significant step for those who suffer from rare genetic disease. It is in fact a moment in which fears and hopes for the future are met.

The organizers are proud of the results obtained with this first crowdfunding. He has shown that Italians are ready to support research in all ways, even with this tool.

Source: healthdesk.it

Autistic people with a rare genetic mutation tend to have a lower QI. This is what emerges from a study led by Matthew Jensen of the State University of Pennsylvania.

About 40% of those who suffer from condition also have intellectual disabilities. It is therefore difficult to distinguish autogenous genes from those that influence intelligence. Researchers were looking for genetic mutations of the genus common to people with autism. They have thus identified a common anomaly in these patients, but rare in other people.

Jensen and colleagues measured the intellectual quotient and made the DNA test of 2,300 autistic children. Of these, approximately 288 had a genetic mutation at the level of a single letter, not present in parents or brothers. In addition, 81 were devoid of a large piece of DNA. Children with these mutations had a much lower intellectual intellect than average.

Among the examined children, 397 had an intellectual rating above the average. The DNA test showed that almost none of them had the mutations in question. In addition, many of them did not even have the genetic mutations most commonly associated with autism. This means that these anomalies may cause a more severe form of autism, linked to intellectional deficits.

The discovery confirms the results of some previous studies, including one of 2014 conducted by Professor Mark Daly. The study showed that autistic children with low QI had a higher rate of genetic mutations.

Source: spectrumnews.org

Professor Alanna Kulchak Rahm has analyzed the results of a 2016 study that involved 1,241 teenagers. The researchers asked the kids for their opinion about DNA testing for genetic disease diagnosis. Since many diseases only appear in adulthood, when should these tests be performed? Because? There have been several responses.

The boys had to choose the disease for which genetic testing exists, but it only occurs in adulthood. Their task was therefore to explain whether it would be best to test teenagers or wait to grow. About half of the respondents said DNA testing would be postponed until adulthood. It is the same opinion promoted by the American Society of Human Genetics (ASHG).

Secondly, the young protagonists of the study, there is a substantial difference between preventable diseases and untreatable diseases. In the case of ovarian cancer or other susceptible diseases, more than 50% believe that the test should be done as soon as possible. In the case of diseases such as Alzheimer or Huntington, more than 60% think it is preferable to postpone.

The researchers did not find significant links between the views of the boys and the demographic factors. They also tested the actual knowledge of the boys on the subject, including limitations and availability of genetic tests. The results will help to improve the availability of DNA testing available today.
Source: ashg.org