Daily Archives: February 28, 2017

Science Daily

Many genetic changes can occur early in human development Science Daily "The diagnostics lab Baylor Genetics is one of the pioneers in this new era of clinical genomics-supported medical practice and disease gene discovery research," Lupski said. "They are developing the clinical genomics necessary to foster and support ...

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Many genetic changes can occur early in human development - Science Daily

ValueWalk

Scientists Favor Gene Editing, But Only For 'Fixing Diseases' ValueWalk An international body of scientific experts has stated, with caution, that gene editing technologies should be allowed for treating diseases or disabilities. The US National Academy of Sciences and the National Academy of Medicine said in a 200-page ... Gene Editing Could Make You SmarterFuturism all 7 news articles »

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Scientists Favor Gene Editing, But Only For 'Fixing Diseases' - ValueWalk

February 28, 2017 Credit: Cardiff University

Researchers at Cardiff University have discovered that genetic variation is the reason why some immune systems overreact to viruses.

Previous research had already revealed that a gene called Ifitm3 influences how sensitive people are to the influenza virus, with a variant form of the gene making cells more susceptible to viral infection. The new research reveals that Ifitm3 also plays an important role in controlling the extent of the inflammatory response triggered by virus infection.

The study suggests that individuals with deficiencies in Ifitm3 may have an overactive immune response to viral infection and may therefore be helped by a combination of anti-inflammatory drugs in addition to medicine that directly targets the virus.

World-wide the frequency of the variant Ifitm3 gene is 1 in 400, although it is much more common in certain ethnicities.

Dr Ian Humphreys from Cardiff University's School of Medicine said: "Now we know that genetic make-up influences how the immune system copes with infections, not only by influencing how the body controls an infection but also by controlling how strongly the body's immune system reacts, we can design therapeutic strategies for individuals who are seriously ill with infections, which are tailored to the individual based on their genetic profile."

The data were collected using immune cells from mice with and without the variant form of Ifitm3, to observe how the immune system responds to a virus called cytomegalovirus. The results could also be relevant for other viral infections such as influenza epidemics/pandemics.

Explore further: Genetics of flu susceptibility: Researchers find gene that can transform mild influenza to a life-threatening disease

More information: Maria A. Stacey et al. The antiviral restriction factor IFN-induced transmembrane protein 3 prevents cytokine-driven CMV pathogenesis, Journal of Clinical Investigation (2017). DOI: 10.1172/JCI84889

Researchers at Cardiff University have discovered that genetic variation is the reason why some immune systems overreact to viruses.

Scientists at Sanford Burnham Prebys Medical Discovery Institute (SBP) have identified a new regulator of the innate immune responsethe immediate, natural immune response to foreign invaders. The study, published recently ...

A new discovery by researchers at the Fred Hutchinson Cancer Research Center in Seattle makes an important step in identifying which specific T cells within the diverse army of a person's immune system are best suited to ...

As much as we try to avoid it, we are constantly sharing germs with those around us. But even when two people have the same infection, the resulting illnesses can be dramatically differentmild for one person, severe or ...

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

If you've ever wondered how a vaccine given decades ago can still protect against infection, you have your plasma cells to thank. Plasma cells are long-lived B cells that reside in the bone marrow and churn out antibodies ...

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Genetic variant linked to overactive inflammatory response - Medical Xpress

Researchers may be one step closer to determining the cause of schizophrenia, after uncovering an abnormal genetic process associated with the disease that begins in the womb.

By transforming skin cells from patients with schizophrenia into neuronal progenitor cells - cells that form neurons in early development - researchers identified an abnormal gene pathway called nuclear FGFR1 (nFGFR1) that impairs early brain development.

Senior study author Michal K. Stachowiak, Ph.D., of the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo in New York, and colleagues say that their findings may bring us closer to treatments that could prevent schizophrenia in utero.

The researchers recently reported their results in the journal Schizophrenia Research.

According to the National Institute of Mental Health, around 1.1 percent of adults in the United States have schizophrenia - a mental health disorder characterized by hallucinations, delusions, and abnormal thoughts.

While the exact causes of schizophrenia remain unclear, researchers have long known that the condition can run in families, suggesting a genetic origin. Furthermore, an increasing number of studies have uncovered genetic mutations associated with an increased risk of schizophrenia.

For their study, Stachowiak and colleagues sought to learn more about the genomic processes that occur in utero that might influence the risk of schizophrenia development.

To reach their findings, the researchers collected skin cells from four adults with schizophrenia and four adults without the disorder.

The skin cells were reprogrammed into induced pluripotent stem cells, and these differentiated into neuronal progenitor cells. This enabled the team to assess the processes that occur during early brain development in people with schizophrenia.

The researchers pinpointed a dysregulated nFGFR1 pathway that targets and mutates numerous genes associated with schizophrenia. The team explains that just one of these gene mutations can impact brain development.

According to the authors, these findings provide proof of concept that schizophrenia may be caused by a dysregulated genomic pathway that influences the brain before birth.

"In the last 10 years, genetic investigations into schizophrenia have been plagued by an ever-increasing number of mutations found in patients with the disease. We show for the first time that there is, indeed, a common, dysregulated gene pathway at work here."

Michal K. Stachowiak, Ph.D.

Furthermore, the team says that these findings open the door to new schizophrenia treatments. For example, a drug could be administered to expectant mothers, whose offspring has a high risk of developing schizophrenia, that prevents processes related to the disease occurring in the developing fetus.

In future studies, the researchers plan to grow "mini brains" using the same processes used in the current study, with the aim of gaining a deeper understanding of how dysregulation of the nFGFR1 pathway influences early brain development, as well as to provide a model to test possible treatments.

Learn how B vitamins might improve symptoms of schizophrenia.

Read more:
Schizophrenia begins in the womb, study suggests - Medical News Today

February 28, 2017 A South African child is evaluated as part of a Stellenbosch University study. Credit: Stellenbosch University

A child's genetic make-up can play a large, hidden role in the success of efforts to maximize his or her development, South African research suggests.

The study, published February 28 in PLoS Medicine and supported by the Government of Canada through Grand Challenges Canada's Saving Brains program, sheds new light on why some children benefit more than others from interventions and raises complex questions about psychosocial intervention programs in future.

In a study led by Professor Mark Tomlinson of Stellenbosch University, the study followed-up an intervention implemented between 1999 and 2003, in which expectant mothers underwent mentoring to improve attachment with their childrenattachment being a measure of a child's psychological security, and predictive of future wellbeing. In the original study, a control group of roughly equal size was composed of expectant mothers who did not receive mentoring.

The original study concluded that the intervention had a small-to-moderate effect on mother-child attachment, evaluated once the children reached 18 months of age.

The follow-up study, conducted thirteen years after the intervention, re-examined the original attachment results and revealed something surprising: the intervention had in fact worked well for toddlers who had a particular genetic characteristic.

Conducted in collaboration with colleagues from the University of Reading, University College London, and Western University, the study re-enrolled and conducted genetic tests on 279 of the original 449 children.

220 children had both genetic and attachment data, enabling the investigators to test whether the original attachment outcomes were influenced by their genes.

The researchers factored in whether the child had the short or long form of gene SLC6A4the serotonin transporter gene, which is involved in nerve signalling, and which other studies have linked to anxiety, depression and other conditions. Serotonin is popularly thought to contribute to feelings of well-being and happiness.

The attachment of children with the short form of the gene, and whose pregnant mothers were mentored, were almost four times more likely to be securely attached to their mothers at 18 months old (84 percent were secure) than children carrying the short form whose mothers did not receive mentoring (58 percent were secure).

Meanwhile, children with the long gene were apparently unaffected by their mother's training or lack thereof: in both cases, the rate of secure attachment was almost identical (70 and 71 percent).

Subject to further validation, says Professor Tomlinson, the insight has "important implications for scientists designing and evaluating interventions to benefit as many people as possible in South Africa and worldwide."

"Without taking genetics into account, it is possible that other studies have under-estimated the impact of their interventions, as we originally did."

Says lead author Dr. Barak Morgan of the University of Cape Town: "The immediate significance of this research is the revelation that in principle, and probably in many cases in practice too, the effectiveness of interventions has been mis-measuredunder-estimated for genetically susceptible individuals and over-estimated for those who are genetically less susceptible. But even more worrying is the implication that the negative consequences of not receiving an intervention also differ by genotype."

"This is an enormously important insight because, in this case, the subgroup with the short form of the SLC6A4 gene is also the one with the most to lose if not helped."

"Individuals with the long form of the gene, on the other hand, appear less sensitive and derived little benefit from the same intervention, and little detriment from not getting it."

Adds Professor Tomlinson: "In the original study, we did not see such a big impact from this intervention because only those with the short gene improved, and this improvement was 'diluted' by the large number of children with the long gene who did not improve."

The researchers caution that, among other limitations, this study involved a relatively small sample and only measured one gene and one outcome (attachment).

Dr. Morgan stressed: "We are certainly not saying that only some people should receive the interventionthose who are 'susceptible' to improving from it. There is little scientific justification for this. For example, many children with the non-susceptible long genotype of the SLC6A4 gene may carry the susceptible form of another gene which renders them much more likely to benefit from the same intervention but for a different but equally important outcome.

"Going forward, the implications are therefore two-fold. Firstly, measuring genetic differences allows for proper assessment of the effectiveness or lack of effectiveness of an intervention for a particular outcome in different individuals. Secondly, this information can then be used to find out how to intervene effectively for allto guide what might be done to improve outcomes for a non-responsive gene-intervention interaction while continuing to optimise outcomes for the responsive one."

Says Dr. Karlee Silver, Vice President Programs of Grand Challenges Canada: "This work is fundamentally about better understanding the impact of interventions which is an important step forward to creating a world where every child can survive and thrive."

Says Dr. Peter A. Singer, Chief Executive Officer of Grand Challenges Canada: "This is a startling finding that changes the way I think about child development. Why is it important? Because child development is the ladder of social mobility used to climb out of the hole of inequity by millions of children around the world."

Explore further: Study explores how to tell children they have HIV

More information: "Serotonin Transporter Gene (SLC6A4) Polymorphism and Susceptibility to a Home-Visiting Maternal-Infant Attachment Intervention Delivered by Community Health Workers in South Africa: Re-analysis of a Randomized Controlled Trial" DOI: 10.1371/journal.pmed.1002237

Journal reference: PLoS Medicine

Provided by: Grand Challenges Canada

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A child's genetic make-up can play a large, hidden role in the success of efforts to maximize his or her development, South African research suggests.

An important learning process is impaired in adolescents who were abused as children, a University of Pittsburgh researcher has found, and this impairment contributes to misbehavior patterns later in life.

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Sending stuffed animals for a sleepover at the library encourages children to read with them, even long after the sleepover took place, say researchers in a new study in Heliyon. For the first time, the study proves stuffed ...

A growing body of research has shown that people's mindsets have measurable physical results.

Many musicians are familiar with the phenomenon: Their music sounds much better while performing it live than when they listen back to the recorded version. Scientists at the Max Planck Institute for Human Cognitive and Brain ...

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To maximize a child's development, genetics provide important insight - Medical Xpress