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Category: biotech/medical – Page 3,112

Use of next-generation gene sequencing in NICUs may improve diagnosis of rare diseases

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.

Gene Duplication: New Analysis Shows How Extra Copies Split the Work

Word cloudThe 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.

Cannabis use linked to gene mutation

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 use and severe illnesses such as cancer has previously been documented, how this occurs and the implications for 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.

Gene BRCA1 Plays An Important Role In DNA Repair

Interesting.

The research, published in Nature Structural and Molecular Biology, explains how the gene encourages the attachment of the protein, ubiquitin, to other proteins and plays a vital role in DNA repair. Should the results be confirmed by further studies, it is possible that patients with certain genetic changes in BRCA1 could be identified as being at higher risk of breast and ovarian cancer.

First gene therapy for children is approved in Europe: Radical treatment for rare ‘bubble boy’ disorder has a 100% survival rate

Great news for precision medicine.

European regulators have given the green light for a British drug firm to produce the world’s first gene therapy treatment for children.

GlaxoSmithKline was given approval by the European Commission to provide the treatment to children with a rare immune disorder — which can be fatal for those affected.

The treatment, called Strimvelis, is the first stem cell gene therapy to treat children with severe combined immunodeficiency — commonly referred to as ‘bubble boy’ syndrome.

The Coming Genetic Editing Age of Humans Won’t Be Easy to Stomach

My new article for Vice Motherboard on extreme biohacking that compares the Uncanny Valley to Speciation Syndrome:

Transhumanism tech like CRISPR, 3D printing, and coming biological regeneration of limbs will not only change lives for those that have deformities, but it will change how we look at things like a person with a three-foot tail and maybe even a second head.

At the core of all this is the ingrained belief that the human being is pre-formed organism, complete with one head, four limbs, and other standard anatomical parts. But in the transhumanist age, the human being should be looked at more like a machine—like a car, if you will: something that comes out a particular way with certain attributes, but then can be heavily modified. In fact, it can be rebuilt from scratch.

In the future, there may even be walk-in clinics where people can go to have various gene treatments done to affect their bodies. Already, we have IVF centers where people can use radical tech to privately get pregnant—and also control and monitor various stages of a child’s birth. Eventually, if government allows it, gene editing centers will also offer a multitude of designer baby traits, some which also would come via CRISPR. We might even eventually use artificial wombs for the whole process.

Economically, a trillion dollar industry could be created by the burgeoning genetic editing industry—one that greatly benefits human health and science innovation. But of course, first we must get over our fears of modifying the human body and the effects of speciation syndrome.

More Efficient CRISPR Gene Editing May Potentially Help Cure Diseases

Awesome.

Researchers have developed a new gene editing tool that is more efficient and easier to use. CRISPR-EZ addresses the issue of target RNA accuracy and embryo viability in IVF transgenic mice.

( andrew modzelewski/lin he | university of california berkeley )

CRISPR gene editing has been the subject of many researchers around the world because of its great potential in the study human genetic disease. But more than that, scientists have high regard for this tool because it can help cure complex and debilitating diseases like dementia and cancer.

As more fine-tuning is done in the use of CRISPR gene editing, more diseases can be effectively cured. CRISPR-Cas9 has been used to accurately replace or change genes but it is mostly done in early embryos, and there is a need to increase its accuracy and ease of use. With this in mind, researchers from the University of California (UC) Berkeley have developed a new method called CRISPR-EZ (CRISPR ribonucleoprotein electroporation of zygotes) that would make gene editing easier.

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