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Single test for over 50 genetic diseases will cut diagnosis from decades to days

Further research shows that the test is accurate.

When it comes to genetic neurological and neuromuscular diseases, screening early is key to getting the right treatment. A new DNA test developed by researchers at the Garvan Institute of Medical Research in Sydney may help in this process, as reported by the institution in a press release published on Saturday.

Garvan researchers have shown how new genomic sequencing technology can reduce the ‘diagnostic odyssey’ experienced by people with rare neurological and neuromuscular diseases.

Centenarian Blood Test Analysis (n=1,754; Part II)

(Part II) Centenarian Blood Test Analysis (n=1,754)

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Papers referenced in the video:
Risk Factors For Hyperuricemia In Chinese Centenarians And Near-Centenarians.
https://pubmed.ncbi.nlm.nih.gov/31908434/

Total cholesterol and all-cause mortality by sex and age: a prospective cohort study among 12.8 million adults.
https://pubmed.ncbi.nlm.nih.gov/30733566/

Association between low-density lipoprotein cholesterol and cardiovascular mortality in statin nonusers: a prospective cohort study in 14.9 million Korean adults.

Continue reading “Centenarian Blood Test Analysis (n=1,754; Part II)” | >

Examining Plants Brought Back to Life From 32,000-Year-Old Seeds

Thanks to the work of squirrels, researchers in Siberia were able to grow viable Silene stenophylla plants from 32,000-year-old seeds. This incredible event, which happened in 2012, is still having a dramatic event on the scientific community and now Austrian researchers are trying to sequence the plant’s DNA to find out how it was able to survive so long.

The story starts over 10 years ago, when a team of Russian, Hungarian, and American scientists recovered the frozen seeds in 2007. They were buried 125 feet underground, deep in the Siberian permafrost. The team was investigating the burrows of ancient squirrels when they made the discovery. Fruit and seeds had been perfectly sealed from the elements thanks to the squirrels’ burrowing techniques.

“The squirrels dug the frozen ground to build their burrows, which are about the size of a soccer ball, putting in hay first and then animal fur for a perfect storage chamber,” shared Stanislav Gubin, one of the researchers who explored the burrows. “It’s a natural cryobank.”

Drug Candidate Reduced Brain Inflammation and Protected Against Cognitive Decline in Alzheimer’s Mouse Model

Summary: 3,6’-dithiopomalidomide (DP), an anti-inflammatory drug candidate, protected mouse models of Alzheimer’s disease against cognitive decline by reducing neuroinflammation.

Source: NIH

An anti-inflammatory drug candidate, known as 3,6’-dithiopomalidomide (DP), designed by researchers at the National Institute on Aging (NIA), protected lab mice against cognitive decline by reducing brain inflammation.

Protein tweak makes CRISPR gene editing 4,000 times less error-prone

The CRISPR gene-editing system is a powerful tool that could revolutionize medicine and other sciences, but unfortunately it has a tendency to make edits to the wrong sections of DNA. Now, researchers at the University of Texas at Austin have identified a previously unknown structure of the protein that drives these mistakes, and tweaked it to reduce the likelihood of off-target mutations by 4,000 times.

CRISPR tools use certain proteins, most often Cas9, to make precise edits to specific DNA sequences in living cells. This can involve cutting out problematic genes, such as those that cause disease, and/or slotting in beneficial ones. The problem is that sometimes the tool can make changes to the wrong parts, potentially triggering a range of other health issues.

And in the new study, the UT researchers discovered how some of these errors can happen. Usually, the Cas9 protein is hunting for a specific sequence of 20 letters in the DNA code, but if it finds one where 18 out of 20 match its target, it might make its edit anyway. To find out why this occurs, the team used cryo-electron microscopy to observe what Cas9 is doing when it interacts with a mismatched sequence.