Aurora magazine

Many of the most difficult diseases to treat have a genetic basis: genetic diseases, of course, but also tumors and viral infections. Scientists have long been working on drugs that repair faulty genes, yet few of them are available on the market. Why? Researchers at Northeastern University have come up with an answer.

Professor Ke Zhang's team has developed a way to increase the efficacy of a class of these drugs, oligonucleotides. It is in fact frequent that the liver and kidneys eliminate the drugs of this class, rendering them ineffective. Researchers are therefore elaborating a defensive structure for the molecule, which isolates it and allows it to act on the organism. How does this affect the future of genetic medicine?

The shield consists of multiple chains of polyethylene glycol attached to the oligonucleotides. Chains make the drug too large to be filtered, protect it from enzymes and allow it to interact with genes. In this way the drug stays in circulation longer and has more time to destroy damaged genes. This could give new hope to many treatments, wrecked because the drug could not remain in circulation.

The team tested the shield on an anticancer medicine. Most of the oligonucleotides have attacked the genetic material of cancer cells. As a result, the rate of tumor growth has decreased and there has been an improvement in the health of the guinea pigs.

Source: medicalxpress.com

A team of French and Swiss researchers has developed a chip to facilitate the diagnosis of Huntington's disease. The micro device measures the length of regions of DNA connected to the disease in less than 5 minutes.

Scientists have also tested it on samples of patients with type 1 myotonic dystrophy, with excellent results. Genetic diseases such as Huntington are caused by the presence of trinucleotide repetitions in a gene. In the case of Huntington's disease, there are too many CAG trinucleotide repeats. The particular nature of the genetic defect extends the timing of the diagnosis by traditional sequencing.

Researchers from the Universities of Toulouse and Lausanne tested a chip called μLAS, which measures the trinucleotides associated with Huntington. The chip acts like a funnel, dividing the DNA into smaller fragments. At this point a fluorescent dye is used and a marker that divides the fragments by weight. All this facilitates the measurement of the different sections of DNA, determining if there are abnormal areas.

The new system has proven effective in diagnosing 5 cases of Huntington's and 3 of dystrophy. The diagnoses took all 5 minutes or less, while covering the whole range of possible expansions in both diseases. Furthermore, the test proved to be very sensitive, so that the researchers did not have to expand the samples.

Source: huntingtonsdiseasenews.com

Researchers from the University of Pittsburgh have found a way to preserve testicular tissue. In fact, the first monkey was born, conceived thanks to this method and is perfectly healthy. This means that the new method could save the fertility of so many children and boys with cancer.

The first experiment was small, limited to primates. Yet this success raises the hope that the technique can also be applied to humans. If all goes well, it could become routine for those who have to undergo chemotherapy or radiation therapy, thus risking infertility.

The basic concept is similar to the one behind ovarian tissue conservation: "can we get mature gametes from immature tissue?" Now it seems that the answer is "yes". This is especially important for children undergoing treatments. Adults and adolescents can freeze their sperm, but this is not true for those who have not yet reached puberty. The team took tissue samples from the testes of five young macaques.

They have frozen them for a variable period, from five hours to five months. At this point they re-implanted the samples and let them ripen. Once removed again, all the samples were ready to produce spermatozoa. With the sperm obtained, the researchers fertilized 138 oocytes, of which 40% reached the first stages of development. One of these led to the birth of the Grady monkey.

Source: sciencealert.com

A Stanford team is developing a study dedicated to the diagnosis of metabolic diseases. Over the next few years, researchers will study the genetic profile of thousands of patients treated at Lucile Packard Children’s Hospital Stanford and Stanford Children’s Health clinics.

The goal is to create a metabolic profile for each patient, so as to identify problems in time. Scientists will collect blood and urine samples from patients. Starting from these, they will examine about 800 lipids and 700 non-lipids. If all goes as planned, the team will complete 1,000 metabolic profiles by the end of 2019. To date, the clinical routine involves the measurement of a fraction of metabolites present in the blood.

The most famous are glucose and cholesterol, important but not sufficient to have a complete clinical picture. Actual measurements provide information on specific pathologies. The purpose of this study is to shift attention to a far greater number of diseases. Furthermore, researchers hope to better understand the genetic origins of these diseases. The profiling of healthy patients at the moment can help identify problems before they occur.

In addition, it could help to understand why some newborns are more at risk of metabolic diseases, such as premature babies. In this way it will be easier to take measures in time, developing new therapies. The ultimate goal of researchers is to offer genetic screening to all newborns at risk. Once a possible genetic anomaly linked to metabolic problems is identified, it will be possible to work to keep them healthy rather than heal them once they are adults.

Source: med.stanford.edu