Aurora magazine

Researchers at the University of Oxford used gene therapy to restore sight to 12 patients with choroideremia. It is a rare genetic disease that causes a progressive blindness. Those who suffer from it are destined to lose their sight before the age of 40. The first test for the new treatment, however, worked: the degeneration stopped and there was a significant increase in vision.

The first tests began in 2011. The disease is caused by mutation in a single gene, which treatment is targeted. The doctors mounted a correct version of the gene on a viral vector and injected it into a patient's eye. The virus has infected cells, replacing the wrong gene with a correct copy. For years after treatment, patients have shown a marked improvement in the treated eye and a worsening in the untreated eye.

It is estimated that only in Italy there are a thousand people suffering from choroideremia, but they could be even more. It is possible that the lack of treatment and the rarity of the disease prevented the diagnosis in many cases. Ophthalmologists are not prepared for the possibility that the deterioration of peripheral vision is caused by a genetic disease.

This first test was an important success in the fight against choroideremia, which today is not a cure. If confirmed with other clinical trials, it could save the sight of thousands of people in the world. For the moment it is known that the procedure is safe. The next step will be to test it on more patients and confirm its effectiveness.

Source: corriere.it

A team of scientists has carried out a genetic test that promises to measure embryo intelligence. In this way it would be possible to exclude those with a very low IQ and to focus on the most intelligent. Is it really possible? For the moment the test has not yet been used, but it is already raising discussions.

Pre-implantation genetic tests are used to identify embryos at risk of genetic diseases. They are used if both parents are healthy carriers of the disease, but also to identify any chromosomal abnormalities. The company is not always easy: some diseases involve hundreds of genes. As the research progresses, however, the list of conditions that can be identified in this way also grows.

The new test would be based on the analysis of multiple DNA regions, so as to measure the probability that the embryo has a low IQ. The analysis is not accurate enough to provide a precise prediction, but promises to identify at least the embryos affected by mental disability. According to some, in the future it could even help to choose the most intelligent embryos. Would it really be possible?

It is still unclear how and to what extent genes influence intelligence: the cultural environment continues to play an essential role. As for the intelligence genes we know, they could also have unexpected effects. For example, some studies suggest a correlation between high academic skills and autism. A possible selection, therefore, could lead to a very intelligent baby but with other types of problems.

Source: newscientist.com

Choroideremia is a genetic disease that affects about 1 newborn every 50,000-100,000, especially males. The disease manifests itself in the first 10 years of life with a progressive narrowing of the peripheral visual field. Before the age of 40, complete vision loss and subsequent blindness occur.

In the choroideremia the progressive degeneration occurs of:

retinal
choroid
retinal pigment epithelium
photoreceptor

The latter are the cells placed at the back of the eye, which collect light.

The first symptom of choroideremia is the lowering of vision in low light conditions. The lack of photoreceptors makes it difficult to collect the little light available in the environment. Then the visual field begins to shrink and leads to the so-called tubular vision. In adult age this translates into total loss of sight. It usually happens around the age of 40, but the timing may change depending on the patient's condition.

Progressive loss of vision remembers what happens in other types of retinal degeneration, such as X-linked retinitis pigmentosa or turned atrophy. This complicates the diagnosis, especially if there are no cases known in the family. The assessment of the fundus of the eye and the dosage of ornithine levels can help to obtain a more precise diagnosis, but not always enough. Genetic tests can be used to confirm the diagnosis.

The disease is caused by the mutated version of the CHM gene, which encodes the REP-1 protein. About 20% of patients do not show the mutation, so it is likely that there are other genes involved.

For the moment there are no definitive therapies. The only possible treatment is to make the most of the visual function, also thanks to technical support for low vision. These have helped and help many patients to lead an almost normal life, although unfortunately there is still no way to stop the progression of the disease.

Source: retinaitalia.org

From nature, we should all be well away from coffee. The bitterness is in fact linked to poisonous and harmful substances: it is for this reason that we are far from most of the foods that have this flavor. Yet over the centuries coffee has conquered the hearts of many people. How is it possible? Scientists at Northwestern University have a possible answer.

US researchers have studied the relationship between genes, bitter sensitivity and preference between coffee and tea. The subjects most sensitive to the bitter taste are also those that consume more coffee. The predisposition to appreciate the bitterness of coffee would in fact be the result of experiences of positive reinforcement. The more coffee you drink, the more you feel energetic and positive, the more you appreciate the drink. How did scientists arrive at this conclusion?

The study analyzed the bitterness and drink consumption of 400,000 individuals. Scientists have looked for genetic variants that influence the bitterness of three substances: caffeine, quinine, and PROP. Caffeine is the substance contained in coffee, quinine gives the bitterness to tonic water and the PROP mimics the bitterness of cabbage and broccoli. Later, scientists compared data with the consumption of coffee, tea and alcohol.

The subjects most sensitive to bitter caffeine preferred coffee to tea. Those more predisposed towards quinine and PROP, instead, avoided the coffee. People most sensitive to PROP also tended to avoid alcohol, especially red wine.

Source: focus.it