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Archive for the ‘genetics’ category: Page 243

Sep 4, 2021

Scientists identify novel mechanism that links genetic defect in IBD patients to gut leakiness

Posted by in categories: biotech/medical, genetics, health

The cumulative effect of reduced PTPN2 activity on both mechanisms was an elevated fluid loss. The researchers proved this defect could be reversed by treating cells lacking PTPN2 with recombinant -; or synthetic -; matriptase.


A team of researchers led by a biomedical scientist at the University of California, Riverside, has identified a novel mechanism by which loss-of-function mutations in the gene PTPN2, found in many patients with inflammatory bowel disease, or IBD, affect how intestinal epithelial cells maintain a barrier.

The intestinal epithelium, a single layer of cells, plays a critical role in human health by providing a barrier while also allowing nutrient and water absorption. Intestinal epithelial cells are needed for regulating immune function, communicating with the intestinal microbiota, and protecting the gut from pathogen infection -; all of which critically depend on an intact epithelial barrier.

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Sep 2, 2021

Cat genome’s ‘dark matter’ may hold clues to our health

Posted by in categories: biological, biotech/medical, cosmology, genetics

Cats have many superior genetic mutations like night vision even immunity to the current pandemic. If we can find the key to their immunity we could find a way to have near super human immunity.


“Getting a better understanding of the cat’s biology and genetic makeup will help us better understand the biology of humans, too,” says Leslie Lyons. (Credit: Lottie/Flickr)

The findings, published in Trends in Genetics, come after decades of genome DNA sequencing by Leslie Lyons, professor of comparative medicine in the University of Missouri College of Veterinary Medicine. Their cat genome assembly is nearly 100% complete.

Sep 2, 2021

The Era of Genetically Modified Superhumans

Posted by in categories: bioengineering, biotech/medical, ethics, evolution, genetics, life extension

The late 21st century belongs to Superhumans. Technological progress in the field of medicine through gene editing tools like CRISPR is going to revolutionize what it means to be human. The age of Superhumans is portrayed in many science fiction movies, but for the first time in our species history, radically altering our genome is going to be possible through the methods and tools of science.

The gene-editing tool CRISPR, short for clustered regularly interspaced short palindromic repeats, could help us to reprogram life. It gives scientists more power and precision than they have ever had to alter human DNA.

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Sep 1, 2021

One tough bird: vulture’s genes help it thrive on rotting flesh

Posted by in categories: biotech/medical, food, genetics

Circa 2015 Clues of the genetic material in vultures could give rise to humans that have immunity to nearly all bacteria and viruses.


WASHINGTON WASHINGTON (Reuters) — A diet of putrid rotting flesh may not be your cup of tea, but to the cinereous vulture, found across southern Europe and Asia, it is positively delightful. This tough bird, it turns out, is genetically wired to thrive on the stuff.

Researchers on Tuesday said they have sequenced the genome of this big scavenger, also called the Eurasian black vulture, identifying genetic traits that account for a stalwart stomach and powerful immune system that let it carry on eating carrion.

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Sep 1, 2021

New gene therapies may soon treat dozens of rare diseases, but million-dollar price tags will put them out of reach for many

Posted by in categories: biotech/medical, genetics, health, policy

Why not eradicate disease for everyone?


Zolgensma – which treats spinal muscular atrophy, a rare genetic disease that damages nerve cells, leading to muscle decay – is currently the most expensive drug in the world. A one-time treatment of the life-saving drug for a young child costs US$2.1 million.

While Zolgensma’s exorbitant price is an outlier today, by the end of the decade there’ll be dozens of cell and gene therapies, costing hundreds of thousands to millions of dollars for a single dose. The Food and Drug Administration predicts that by2025it will be approving 10 to 20 cell and gene therapies every year.

Continue reading “New gene therapies may soon treat dozens of rare diseases, but million-dollar price tags will put them out of reach for many” »

Sep 1, 2021

Biologists Just Got Closer to The DNA Secrets That Stop Species From Interbreeding

Posted by in categories: biotech/medical, genetics

We think of DNA as the vitally important molecules that carry genetic instructions for most living things, including ourselves. But not all DNA actually codes proteins; now, we’re finding more and more functions involving the non-coding DNA scientists used to think of as ‘junk’.

A new study suggests that satellite DNA – a type of non-coding DNA arranged in long, repetitive, apparently nonsensical strings of genetic material – may be the reason why different species can’t successfully breed with each other.

It appears that satellite DNA plays an essential role in keeping all of a cell’s individual chromosomes together in a single nucleus, through the work of cellular proteins.

Sep 1, 2021

Mitochondrial Diseases May Potentially Be Improved by New Approach

Posted by in categories: biotech/medical, chemistry, genetics

Mitochondrial DNA diseases are common neurological conditions caused by mutations in the mitochondrial genome or nuclear genes responsible for its maintenance. Current treatments for these disorders are focused on the management of the symptoms, rather than the correction of biochemical defects caused by the mutation. Now, scientists at Kyoto University’s Institute for Integrated Cell-Material Science (iCeMS) in Japan report a new approach where mutant DNA sequences inside cellular mitochondria can be eliminated using a bespoke chemical compound. The approach may lead to better treatments for mitochondrial diseases.

Their findings are published in the journal Cell Chemical Biology in a paper titled, “Targeted elimination of mutated mitochondrial DNA by a multi-functional conjugate capable of sequence-specific adenine alkylation.”

“Mutations in mitochondrial DNA (mtDNA) cause mitochondrial diseases, characterized by abnormal mitochondrial function,” the researchers wrote. “Although eliminating mutated mtDNA has potential to cure mitochondrial diseases, no chemical-based drugs in clinical trials are capable of selective modulation of mtDNA mutations. Here, we construct a class of compounds encompassing pyrrole-imidazole polyamides (PIPs), mitochondria-penetrating peptide, and chlorambucil, an adenine-specific DNA-alkylating reagent.”

Aug 31, 2021

What’s next for lab-grown human embryos?

Posted by in categories: biological, genetics

As work in real and model embryos movesforward, scientists are keen to know how similar the two really are. Finding out how models differ in their molecular details, and how their cells behave, is the main reason researchers wish to push beyond 14 days in real embryos. “We can learn a lot from a model,” says Jesse Veenvliet, a developmental biologist at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany. “But it’s important to know where it goes wrong.”


Researchers are now permitted to grow human embryos in the lab for longer than 14 days. Here’s what they could learn.

Aug 31, 2021

Deep Learning Is Tackling Another Core Biology Mystery: RNA Structure

Posted by in categories: biotech/medical, genetics, robotics/AI

As the middle child of the “DNA to RNA to protein” central dogma, RNA didn’t get much press until its Covid-19 vaccine contribution. But the molecule is a double hero: it both carries genetic information, and—depending on its structure—can catalyze biological functions, regulate which genes are turned on, tweak your immune system, and even crazier, potentially pass down “memories” through generations.

It’s also frustratingly difficult to understand.

Similar to proteins, RNA also folds into complicated 3D structures. The difference, explain Drs. Rhiju Das and Ron Dror at Stanford University, is that we comparatively know so little about these molecules. There are 30 times as many types of RNA as there are proteins, but the number of deciphered RNA structures is less than one percent compared to proteins.

Aug 31, 2021

The complete sequence of a human genome

Posted by in categories: biotech/medical, genetics, life extension

In 2,001 Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics. While these drafts and the updates that followed effectively covered the euchromatic fraction of the genome, the heterochromatin and many other complex regions were left unfinished or erroneous. Addressing this remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium has finished the first truly complete 3.055 billion base pair (bp) sequence of a human genome, representing the largest improvement to the human reference genome since its initial release. The new T2T-CHM13 reference includes gapless assemblies for all 22 autosomes plus Chromosome X, corrects numerous errors, and introduces nearly 200 million bp of novel sequence containing 2,226 paralogous gene copies, 115 of which are predicted to be protein coding. The newly completed regions include all centromeric satellite arrays and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies for the first time.

The latest major update to the human reference genome was released by the Genome Reference Consortium (GRC) in2013and most recently patched in2019(GRCh38.p13). This assembly traces its origin to the publicly funded Human Genome Project and has been continually improved over the past two decades. Unlike the competing Celera assembly , and most modern genome projects that are also based on shotgun sequence assembly , the GRC human reference assembly is primarily based on Sanger sequencing data derived from bacterial artificial chromosome (BAC) clones that were ordered and oriented along the genome via radiation hybrid, genetic linkage, and fingerprint maps. This laborious approach resulted in what remains one of the most continuous and accurate reference genomes today. However, reliance on these technologies limited the assembly to only the euchromatic regions of the genome that could be reliably cloned into BACs, mapped, and assembled.