Aurora magazine

Canavan's disease is a genetic neurodegenerative disease, prevalent among Ashkenazi Jews. This term defines the descendants of the Jewish communities that settled in the Reno valley during the Middle Ages. Among the latter, the incidence is 1 case for every 6,400-13,500 newborns, if both parents are Ashkenazi Jews. In the rest of the population, however, the incidence is 1 case for every 100,000 newborns.

The pathology has two forms.

• mild form, which only causes a slight delay in development and occurs during childhood. It is the rarest form.
• Severe form, which causes leukodystrophy, macrocephaly and a marked delay in development. It is the most widespread form of the disease and manifests itself in the neonatal period or in childhood.

Children suffering from severe form present neurological damage and high concentrations of N-acetyl-L-aspartic acid (NAA). High levels of acid can be found in urine, blood and cephaloracidian fluid. All this leads to a serious delay in development. In contrast, in the mild form the levels of the substance are much lower and the delay is also lower.

Canavan disease is linked to mutations in the ASPA gene, which encodes the enzyme aspartoacylase. The mutations are many and can cause both the decrease and the cancellation of the enzymatic activity. Many Ashkenazi Jews have two genetic mutations in particular. Furthermore, those with mild form tend to have a mild and severe mutation.

The prognosis varies depending on the form of the disease. Children who suffer from severe form have an average survival of about 10 years. Those who suffer from the mild form, on the other hand, have an expectation of normal life.

Source: orpha.net

There are genetic diseases caused by mutation of a single gene. Neuropsychiatric disorders, on the other hand, involve hundreds of genes. To these genes are added the environmental factors and some elements hidden in the genome, which seem to regulate gene expression. All this makes the diagnosis and treatment of schizophrenia and other diseases even more complex. For this reason the PsychENCODE Consortium was born, which studies the link between gene associations and changes in their functions.

The research of the consortium is today the most complete genomic analysis on the human brain. Researchers entered molecular mechanisms, focusing on those linked to neuropsychiatric diseases. The results did not reveal all of the diseases analyzed, but revealed genes and pathways and types of cells connected to them. It could therefore give a great stimulus to the elaboration of new therapies.

The project has been going on since 2015 and until today has analyzed 2100 brain samples, all coming from people with psychiatric illnesses. The researchers analyzed DNA, RNA and proteins, looking for clarifications on brain architecture. They also analyzed RNA sequences from 1600 adult individuals with autism, schizophrenia, bipolar disorder or none of these diseases. In this way they have identified thousands of RNA molecules with a recurring partner.

Among the various studies conducted within the project, there is one related to the diagnosis of these diseases. Scientists have created an algorithm that analyzes a person's genome and gene expression. Starting from these data, he predicts the risk of developing a psychiatric illness and allows to intervene immediately.

Source: the-scientist.com

Researchers at Harvard University are trying to modify the DNA of some sperm cells. Their goal will be a gene linked to Alzheimer's, so as to reduce the risk that a possible embryo inherits predisposition to the disease. Embryo destined to not exist, given that the experiment will stop at gametes, at least for the moment.

The gene at the center of the experiment is ApoE. People who inherit two copies are 60% more likely to develop Alzheimer's. The team therefore decided to cut the risk at the root. Scientists will modify the individual nitrogenous bases without cutting the double helix. If ApoE is really among the causes of the disease, this should reduce the risk of developing it.

For the moment the experiment will stop the spermatozoa: no embryos in anticipation. This is a basic research, aimed at verifying the feasibility of the thing and identifying any risks. Nevertheless, the controversy is already popping up, especially following the news of the Chinese twins. Is this experiment the principle of a world of GMO children?

The question is complex. Certainly genetic editing has the potential to eliminate terrible diseases at the root. It could eliminate cystic fibrosis and other genetic diseases, reduce the risk of cancer. On the other hand, any mutation made on gametes will affect future generations. That's why such experiments require attention and still many years of research.

Source: focus.it

Ondansetron is a medication against nausea prescribed during pregnancy. In 2014, about 22% of pregnant women in the United States took it. Nevertheless, the data on its reliability during pregnancy are very few. The studies were mostly small-scale and with conflicting results. For this reason, researchers at Harvard and Brigham analyzed the consequences of the drug in 88,000 gestations.

The researchers focused on the consequences of taking the drug in the first trimester. They looked for possible consequences for the child's health, such as cardiac malformations and cleft lip. According to the study, the drug would be linked to a null increase in the risk of heart malformations. There would instead be a very slight increase in the risk of cleft lip.

The study has retrospectively reviewed the data of 1.8 million pregnancies, all of which occurred between 2000 and 2013. In about 4.9% of these, the doctor had prescribed ondansetron during the first trimester. The researchers thus compared the incidence of problems in the fetus between the two groups.
Among the children who had not been exposed to the drug, 84.4 out of 10,000 were born with cardiac malformations. Among the children of the second group, however, were 94.4 out of 10,000. For cases of cleft lip we speak instead of 11 cases every 10,000 new born against 14 cases for every 10,000 newborns. From a statistical point of view, there is therefore no substantial difference.
Source: harvard.edu