Aurora magazine

An international study published in the journal Nature reveals the 83 genetic variants which affect the height. Although rare variants, their effects can change the height of a person even of 2 cm. It follows that the height is so determined by the genetic information passed from parents, but also by factors up to now neglected. The discovery will help to develop treatments that will promote growth, as well as to better understand the dynamics behind the development of some diseases.

The study involved more than 700,000 people, including more than 250,000 genetic variants studied. Among these it has emerged 83 relevant for height determination. Among the genes involved there are also those that determine the development of cartilage, bone development, the production of hormones. Unlike other variants identified in the past, these are uncommon or even rare. In fact, they act directly on proteins, which makes them much more significant effect.

With the discovery could treat growth problems caused by genetic factors. For example, making the inactive STC2 gene can increase the height of the wearer. One could then think of a drug that blocks the activity, so as to render more easy the growth. The same technique also allows you to identify the risk of developing diabetes, schizophrenia, heart disease and various cancers.
The success of the study has helped the amplitude of the sample considered. The high number of participants allowed to thoroughly study the biological and genetic basis of the mechanisms of growth, as well as those of some diseases. The next step will be, however, expand even more the sample, involving more than 2 million people.

Source: lescienze.it

One of the Wellcome Trust Sanger Institute study identified 14 new developmental disorders with a genetic basis. This is the largest genetic study of children of all time, with more than 4,000 families involved. Research has made a response to more than 1,000 children suffering from rare genetic diseases, who were still without a diagnosis. Answers that will enable families affected by similar genetic conditions to contact, so as to give support to each other and also improve the clinical process. Thanks to the new diagnosis, children can also hope for more effective future treatments and specific.

The data show that each year are born worldwide over 400,000 children with developmental disorders. They are genetic conditions that cause intellectual disability, epilepsy, autism, heart problems. Doctors have already identified more than 1,000 genetic causes, but many of these disorders are so rare as to render impossible a diagnosis. The "Deciphering Developmental Disorders" project (deciphering of developmental disorders) aims precisely to fill these gaps. The researchers involved exploiting new genomic technologies to provide DNA testing to identify the genetic causes of the diseases in question, so as to provide a diagnosis to the sufferer.

The team consists of over 200 geneticists from the National Health Service, which analyzed the genetic makeup of more than 4,000 families with at least one child with developmental disorders. The team focused on new spontaneous mutation that emerge when the DNA is transmitted from parents to children. Researchers have identified new genetic mutations linked to already identified disorders and have created groups including those with similar disorders. In addition to this, they identified 14 new developmental disorders, all caused by spontaneous mutations not present in either parent.

he study shows that 42% of the children involved had a new genetic mutation on genes important for development. The study also shows that children of older parents have a higher rate of risk of being born with developmental disabilities. To monitor the health of their baby, the mother can undergo non-invasive prenatal screening tests can detect the presence of chromosomal abnormalities.

Source: sanger.ac.uk

A European Bioinformatics Institute of Hinxton experiment reveals that genetics could be "contagious." According to the researchers, in fact, the DNA affects both us and those who live alongside us. Indirect effects of this influence would act on anxiety levels, the immune system and also on body weight. The discovery sheds new light on the study of many complex diseases, with strokes often inexplicable if one considers only the patient's genetic make-up.

It is well known that people and condition each other, especially when it comes to recurring behaviors and habits. The observation on guinea pigs, however, has revealed a genetic basis for the phenomenon in question. Researchers have measured the physical and behavioral traits of different groups of mice, putting them in relation to the genetic traits of cage mates. The data showed that the DNA of the other mice would affect up to 29% of the variation observed in guinea pigs. Changes that would have also touched on factors such as levels of immunity and speed healing.

The discovery could influence the way in which you make a diagnosis. If confirmed, in fact, the social context in which the patient lives will acquire much more importance. Your doctor may need to investigate not only the patient's DNA itself, but also on that of those who live around.

Source: ansa.it

An international team of researchers has identified a link between rheumatoid arthritis in adults and juvenile idiopathic arthritis. According to the researchers, the JIA has genetic ties with the disease of adults. The discovery could help develop new treatments for the two conditions, as well as help in the diagnosis.

Juvenile idiopathic arthritis is a complex and difficult disease to treat. In fact, the definition includes seven categories of disease, each with its own individual characteristics. Some of these have counterparts in adult illness, with which they share several clinical features. Other studies had explained these genetic contact points between the two diseases, but the data were limited. The genotyping techniques, however, have allowed genetic analysis much more thorough and almost entirely new.

The researchers analyzed 5,043 cases of juvenile idiopathic arthritis and 14,430 ricollegabili other forms of arthritis. They have identified genetic associations between the various forms of juvenile idiopathic arthritis. Did they then compared with inflammatory arthritis adult. Since these operations showed that in both diseases there is an error of human leukocyte antigen-DRB1.

The results will influence future research regarding the genesis of diseases and possible new treatments.

Source: pharmastar.it