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First Fully Complete Human Genome Has Been Published After 20 Years

The first fully complete human genome with no gaps is now available to view for scientists and the public, marking a huge moment for human genetics. Announced in a preprint in June 2021, six papers have now been published in the journal Science. They describe the painstaking work that goes into sequencing an over 6 billion base pair genome, with 200 million added in this new research. The new genome now adds 99 genes likely to code for proteins and 2,000 candidate genes that were previously unknown.

Many will be asking: “wait, didn’t we already sequence the human genome?” In part, yes – in 2000, the Human Genome Sequencing Consortium published their first drafts of the human genome, results that subsequently paved the way for almost every facet of human genetics available today.

The most recent draft of the human genome has been used as a reference since 2013. But weighed down by impractical sequencing techniques, these drafts left out the most complex regions of our DNA, which make up around 8 percent of the total genome. This is because these sequences are highly repetitive and contain many duplicated regions – attempting to put them together in the right places is like trying to complete a jigsaw puzzle where all the pieces are the same shape and have no image on the front. Long gaps and underrepresentation of large, repeating sequences made it so that this genetic material has been excluded for the past 20 years. Scientists had to come up with more accurate methods of sequencing to illuminate the darkest corners of the genome.

Parkinson’s Breakthrough: Scientists Have Identified a Key Molecule

Adenosine, a neurotransmitter, has been found to act as a brake on dopamine, another neurotransmitter involved in motor control, by researchers at Oregon Health & Science University. The findings, which were published in the journal Nature, reveal that adenosine and dopamine operate in a push-pull dynamic in the brain.

“There are two neuronal circuits: one that helps promote action and the other that inhibits action,” said senior author Haining Zhong, Ph.D., a scientist with the OHSU Vollum Institute. “Dopamine promotes the first circuit to enable movement, and adenosine is the ‘brake’ that promotes the second circuit and brings balance to the system.”

The discovery has the potential to immediately suggest new avenues for drug development to treat the symptoms of Parkinson’s disease is a movement disorder that is believed to be caused by the loss of dopamine-producing cells in the brain.

Triplets graduate from Georgia Tech at 18 with neuroscience degrees

ATLANTA — Three years after being named the first-ever co-valedictorians at West Forsyth High School, the Kashlan triplets graduated from Georgia Tech at 18-years-old.

Adam, Zane, and Rommi Kashlan earned neuroscience degrees with minors in health and medical sciences. They completed their degrees a year early and with honors. The trio will head to Boston to work and conduct research at Harvard Medical School.

“Inseparable, right, guys?” Rommi laughed. “You can’t get away from me!”

Graphene e-tattoo can measure stress levels

Researchers at The University of Texas at Austin and Texas A&M University have used electronic tattoo (e-tattoo) technology to measure stress levels, by attaching a device to people’s palms (AKA electrodermal activity or EDA sensing). The researchers created a graphene-based e-tattoo that attaches to the palm, is nearly invisible and connects to a smart watch. Image In June 2022, researchers from the same universities also developed a graphene-based electronic tattoo that can be worn on the wrist for hours and deliver continuous blood pressure measurements at an accuracy level exceeding nearly all available options on the market today.

Artificial DNA can kill cancer

𝐑𝐞𝐬𝐞𝐚𝐫𝐜𝐡𝐞𝐫𝐬 𝐚𝐭 𝐭𝐡𝐞 𝐔𝐧𝐢𝐯𝐞𝐫𝐬𝐢𝐭𝐲 𝐨𝐟 𝐓𝐨𝐤𝐲𝐨 𝐢𝐧 𝐉𝐚𝐩𝐚𝐧 𝐡𝐚𝐯𝐞 𝐮𝐬𝐞𝐝 𝐚𝐫𝐭𝐢𝐟𝐢𝐜𝐢𝐚𝐥 𝐃𝐍𝐀 𝐭𝐨 𝐭𝐚𝐫𝐠𝐞𝐭 𝐚𝐧𝐝 𝐤𝐢𝐥𝐥 𝐜𝐚𝐧𝐜𝐞𝐫 𝐜𝐞𝐥𝐥𝐬 𝐢𝐧 𝐚 𝐧𝐞𝐰 𝐰𝐚𝐲.

The method was effective in lab tests against human cervical cancer-and breast cancer-derived cells, and against malignant melanoma cells from mice. The team created a pair of chemically synthesized, hairpin-shaped, cancer-killing DNA. When the DNA pairs were injected into cancer cells, they connected to microRNA (miRNA) molecules that are overproduced in certain cancers.

Once connected to the miRNA, they unraveled and joined together, forming longer chains of DNA which triggered an immune response. This response not only killed the cancer cells but prevented further growth of cancerous tissue. This method is different from conventional anticancer drug treatments and is hoped to bring about a new era of drug development.

Self-assembling proteins can store cellular ‘memories’

As cells perform their everyday functions, they turn on a variety of genes and cellular pathways. MIT engineers have now coaxed cells to inscribe the history of these events in a long protein chain that can be imaged using a light microscope.

Cells programmed to produce these chains continuously add building blocks that encode particular cellular events. Later, the ordered protein chains can be labeled with and read under a microscope, allowing researchers to reconstruct the timing of the events.

This technique could help shed light on the steps that underlie processes such as memory formation, response to drug treatment, and gene expression.

What hasn’t natural selection eliminated mental disorders?

The College of Psychiatrists of Ireland Evolution and Psychiatry Special Interest Group welcomed Dr Randolph M Nesse to present a talk titled “Why hasn’t natural selection eliminated mental disorders: Knowing the five reasons improves clinical care as well as research” during their meeting on Friday, 4 February 2022.

The Special Interest Group is open to all College members and Psychiatry trainees.

Keep up to date on all College events on the CPsychI website: https://www.irishpsychiatry.ie/all-events/

Altos bursts out of stealth with $3B, a dream team C-suite and a wildly ambitious plan to reverse disease

Altos Labs just redefined big in biotech. Where to start? The $3 billion in investor support? The C-suite staffed by storied leaders—Barron, Bishop, Klausner—identifiable by one name? Or the wildly ambitious plan to reverse disease for patients of any age? Altos is all that and more.

Early details of Altos leaked out last year when MIT Technology Review reported Jeff Bezos had invested to support development of technology that could “revitalize entire animal bodies, ultimately prolonging human life.” The official reveal fleshes out the vision and grounds the technology in the context of the nearer-term opportunities it presents to improve human health.

“It’s clear from work by Shinya Yamanaka, and many others since his initial discoveries, that cells have the ability to rejuvenate, resetting their epigenetic clocks and erasing damage from a myriad of stressors. These insights, combined with major advances in a number of transformative technologies, inspired Altos to reimagine medical treatments where reversing disease for patients of any age is possible,” Hal Barron, M.D., said in a statement.

Good Hydration Linked to Healthy Aging

Summary: Study finds a link between poor hydration in adults and an increased risk of chronic health conditions and advanced biological aging.

Source: NIH

Adults who stay well-hydrated appear to be healthier, develop fewer chronic conditions, such as heart and lung disease, and live longer than those who may not get sufficient fluids, according to a National Institutes of Health study published in eBioMedicine. .

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