genetics

genetics

genetics

Reactions: Spanish researchers propose new genetic form of Alzheimer's disease

Genetic forms of Alzheimer's are considered to be those in which certain variants of a gene inevitably lead to the disease over time. Until now, only rare alterations in three genes were considered as such. A group of researchers led by the Hospital de Sant Pau in Barcelona has proposed a new, much more frequent form. After analysing data from more than three thousand donated brains and clinical data from more than ten thousand patients, they found that almost all people who carry two copies of the ApoE4 variant in the ApoE gene, which was previously only considered a risk factor, also end up developing the disease.They publish the results in the journal Nature Medicine.  

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Reactions to study linking rare genetic variants with left-handedness

10 % of people are left-handed, which occurs when the right cerebral hemisphere is more dominant for the control of that hand - whereas it is the left hemisphere in the case of right-handed people. To investigate the genetic basis of this laterality, scientists in the Netherlands have analysed genome data from 350,000 people in the UK biobank for rare genetic variants associated with this phenomenon. The heritability of left-handedness due to rare coding variants was low, at less than 1%. The research, published in Nature Communications, suggests that one gene - TUBB4B - is 2.7 times more likely to contain rare coding variants in left-handed people. 

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Reactions: e-cigarettes may cause epigenetic changes associated with cancer even in the short term

An international team of researchers has examined the epigenetic effects of tobacco and e-cigarettes over time in more than 3,500 samples. Their results indicate that e-cigarettes can also cause changes associated with an increased risk of cancer even shortly after starting to use them. They publish the study in the journal Cancer Research. 

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Reaction: new evidence on the link between father's age and genetic disorders in offspring

Sperm from older fathers are more likely to pass on new mutations that would cause congenital disorders to their babies, while other mutations are independent of paternal age, says a study published in Genome Biology and Evolution. The team analysed the frequency of ten FGFR3 gene variants in semen samples from anonymous donors aged 23-59 years in Austria. Two pathogenic mutations of this gene do occur more frequently in older fathers: those associated with achondroplasia and with thanatophoric dysplasia, a rare and very fatal disease. Other mutations have no correlation with paternal age and may occur in the testes before sexual maturation, according to the study.

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Reaction: gene responsible for heart malformations in people with Down syndrome identified

People with Down syndrome often have heart problems, which can affect their life expectancy. However, the genes responsible among the 230 possible candidates were not known. A team of researchers used human tissue and mouse embryonic hearts and concluded that an extra copy of the DYRK1A gene is important in the process. In addition, they have tested a treatment in early gestation in mouse models that reduces its consequences. The research is published in Science Translational Medicine.

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Reaction: genomic sequencing of hundreds of primates reveals clues to identify disease-causing mutations such as cancer

A special issue published in the journals Science and Science Advances shares for the first time the genomes of hundreds of primates, representing 86% of known genera. One of the papers -co-led by the Institute of Evolutionary Biology and the Pompeu Fabra University- analyzes the relationship between the genes of these animals and the risk of suffering from certain diseases such as cancer in humans.

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Reactions: first draft of human pangenome published

In a series of three articles and a companion article - collected in Nature Biotechonology - Nature publishes the first draft of the human pangenome reference, which contains highly detailed data from 47 genetically diverse individuals. The first human genome was published more than two decades ago but, being from a single person, it does not represent human diversity, whereas the pangenome refers to the gene pool of our entire species. The ultimate goal of the Human Pangenome Reference Consortium project is to include genetic material from 350 people by 2024. It is hoped that this data will allow more clinically relevant genetic variants to be identified.

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Reactions: New technique tested to improve gene therapy for Parkinson's disease

A study led by Spanish researchers and published in Science Advances has tested a new technique to improve gene therapy treatments for Parkinson's disease. Using ultrasound, they have managed to open the blood-brain barrier in specific areas, allowing the viruses used in the therapy to pass through and better reach the desired brain areas. After testing it on monkeys and three patients -patients were not given gene therapy, but the efficacy of the technique was tested using a radiotracer that does not normally cross the blood-brain barrier-, their conclusions are that the technique is safe and feasible and "could allow early and frequent interventions to treat neurodegenerative diseases".

 

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Reactions to the creation of new medical specialties, including Emergency Medicine and Clinical Genetics

The former Minister of Health, Carolina Darias, announced a few days ago at a press conference the creation of new medical specialities. The first to "begin the process" will be emergency medicine, which had caused "controversy in different autonomous communities and scientific societies" and for whose implementation a consensus has been reached. It will be followed by other specialities such as Clinical Genetics and Infectious Diseases, as announced in the Senate in February.

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