The use of next-generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in CMAJ (Canadian Medical Association Journal).
“Next-generation sequencing has the potential to transform the practice of clinical genetics rapidly,” writes Dr. David Dyment, Children’s Hospital of Eastern Ontario (CHEO), with coauthors. “In particular, newborns admitted to the NICU with rare and complex diseases may benefit substantially from a timely molecular diagnosis through next-generation sequencing.”
Children with suspected rare genetic diseases usually undergo a battery of tests to determine a molecular diagnosis. Current practice involves testing of specific genes or a panel of genes, and these tests are often done outside the country because of limited availability within Canada. This means it may be months or even years before a diagnosis is made.
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The human genome contains more than 20,000 protein-coding genes, which carry the instructions for proteins essential to the structure and function of our cells, tissues and organs. Some of these genes are very similar to each other because, as the genomes of humans and other mammals evolve, glitches in DNA replication sometimes result in extra copies of a gene being made. Those duplicates can be passed along to subsequent generations and, on very rare occasions, usually at a much later point in time, acquire additional modifications that may enable them to serve new biological functions. By starting with a protein shape that has already been fine-tuned for one function, evolution can produce a new function more rapidly than starting from scratch.
Pretty cool! But it leads to a question that’s long perplexed evolutionary biologists: Why don’t duplicate genes vanish from the gene pool almost as soon as they appear? After all, instantly doubling the amount of protein produced in an organism is usually a recipe for disaster—just think what might happen to a human baby born with twice as much insulin or clotting factor as normal. At the very least, duplicate genes should be unnecessary and therefore vulnerable to being degraded into functionless pseudogenes as new mutations arise over time.
An NIH-supported team offers a possible answer to this question in a study published in the journal Science. Based on their analysis of duplicate gene pairs in the human and mouse genomes, the researchers suggest that extra genes persist in the genome because of rapid changes in gene activity. Instead of the original gene producing 100 percent of a protein in the body, the gene duo quickly divvies up the job [1]. For instance, the original gene might produce roughly 50 percent and its duplicate the other 50 percent. Most importantly, organisms find the right balance and the duplicate genes can easily survive to be passed along to their offspring, providing fodder for continued evolution.
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Pot can cause serious illness due to its gene altering effects.
Scientists from The University of Western Australia have identified how using cannabis can alter a person’s DNA structure, causing mutations which can expose them to serious illnesses, and be passed on to their children and several future generations.
Although the association between cannabis use and severe illnesses such as cancer has previously been documented, how this occurs and the implications for future generations was not previously understood.
Associate Professor Stuart Reece and Professor Gary Hulse from UWA’s School of Psychiatry and Clinical Sciences completed an extensive analysis of literary and research material to understand the likely causes and uncovered alarming information.
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TELTOW, Germany and REHOVOT, Israel, May 31, 2016 /PRNewswire/ —
- Cross reference: Picture is available at AP Images (http://www.apimages.com)
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Researchers at MIT are seeking to redesign concrete — the most widely used human-made material in the world — by following nature’s blueprints.
In a paper published online in the journal Construction and Building Materials, the team contrasts cement paste — concrete’s binding ingredient — with the structure and properties of natural materials such as bones, shells, and deep-sea sponges. As the researchers observed, these biological materials are exceptionally strong and durable, thanks in part to their precise assembly of structures at multiple length scales, from the molecular to the macro, or visible, level.
From their observations, the team, led by Oral Buyukozturk, a professor in MIT’s Department of Civil and Environmental Engineering (CEE), proposed a new bioinspired, “bottom-up” approach for designing cement paste.
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Bad with money? Blame it on your hormones according to Richard Thaler.
Let’s face it: most of us suck at managing money.
According to a National Bureau of Economics working paper published this March, roughly three quarters of all American households carry some form of debt. 40% haven’t paid off their credit cards. Nearly half have no savings at all. And the US isn’t alone: Canada, the UK and Australia are in roughly the same debt-ridden neighborhood.
There’s no doubt that we’re bad with money. But according to Richard Thaler, an economist at the University Chicago, we’re not (entirely) to blame.