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

Lysosomal storage diseases are among the less known rare genetic diseases. Doctors often attribute symptoms to more known diseases, delaying the diagnosis. A new program, The Lantern Project, aims to solve this problem. The project will offer genetic tests for the diagnosis of lysosomal storage diseases, such as Fabry's syndrome or Gaucher's disease.

It is estimated that there are about 10,000 cases of undiagnosed lysosomal storage diseases. Sometimes, the diagnosis requires years and exhausting pilgrimages from one doctor to another. For Fabry's disease, the average diagnosis period is around 15 years. Among the reasons is the inability to access comprehensive diagnostic tests, which also include the genetic aspect. The Lantern Project aims to address this problem.

The aim of the project is to facilitate the diagnosis for the many US doctors and patients. In particular, the project will focus on those who fear suffering from the disease of Gaucher, Pompe, Niemann-Pick and Fabry. In addition to genetic testing, tests for enzyme levels and tests for some muscular dystrophies will be available.

The project focuses on the possibilities offered by next-generation sequencing technology. The new method is in fact faster and cheaper than the previous ones, since it allows to analyze several genes at the same time. As a result, it is possible to test each patient for various lysosomal storage diseases in a short time.

Source: fabrydiseasenews.com

The BRCA1 and BRCA2 genes are among the most important genes linked to the risk of breast and ovarian cancer. Averli is not a conviction, indeed: knowing that you are at risk allows you to take all the necessary countermeasures. This can save your life, especially in the case of ovarian cancer. Yet only 18% of BRCA gene carriers know they are. A study by the University of Pennsylvania discovered it.

A team of researchers studied the DNA of 50,000 people, testing them for BRCA genes. Of these, 267 were carriers of the genes, yet only 48 were aware of them. The study highlights how little the tests are widespread to identify the genes that predispose to breast and ovarian tumors. To date, only those who have had family cases carry out genetic tests. Yet it is absolutely not enough.

The presence of cancer in the family is indeed one of the main criteria for measuring the risk of getting sick. Sometimes, however, knowledge of family history is not thorough enough to push for genetic testing. It therefore happens that some BRCA gene carriers do not suspect that they are at risk. The study in Pennsylvania highlighted this fact.

Of the 267 carriers, some died before the end of the study. Half of them left because of a tumor related to BRCA genes. In contrast, very few among those who lived long enough to discover that they were carriers developed a tumor. This is yet another proof of how important genetic testing is for prevention.

Source: medicalxpress.com