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For children suffering from rare diseases, it usually takes years to receive a diagnosis. This “diagnostic odyssey” is filled with multiple referrals and a barrage of tests, seeking to uncover the root cause behind mysterious and debilitating symptoms.

A new speed record in DNA sequencing may soon help families more quickly find answers to difficult and life-altering questions.

In just 7 hours, 18 minutes, a team of researchers at Stanford Medicine went from collecting a blood sample to offering a disease diagnosis. This unprecedented turnaround time is the result of ultra-rapid DNA sequencing technology paired with massive cloud storage and computing. This improved method of diagnosing diseases allows researchers to discover previously undocumented sources of genetic diseases, shining new light on the 6 billion letters in the human genome.

Available treatments work equally well against the variant.


A newfound variant of HIV, the virus that causes AIDS, has been uncovered in the Netherlands and appears to cause faster disease progression compared with other versions of the virus.

The human immunodeficiency virus (HIV) infects and destroys immune cells called CD4 cells in the body, causing the number of these cells to plummet. If left untreated, the infection then progresses to AIDS. In people infected with the newfound HIV variant, called the VB variant, the CD4 counts fall at about twice the rate as those of people infected with closely related HIV strains, meaning those of the same genetic subtype (B).

Concetta Antico is the world’s most famous tetrachromat, meaning she has four types of color receptors (cone cells) in her eyes. Most of us have three types. As a result of this mutation, Antico can see around 100 million colors, 100 times more than other people. Antico is an artist and she says that her psychedelic color paintings depict what she perceives. I wonder though what her paintings look like through her eyes. From The Guardian:

According to Dr Kimberly Jameson, a University of California scientist who has studied Antico, just having the gene – which around 15% of women have – is not alone sufficient to be a tetrachromat, but it’s a necessary condition. “In Concetta’s case … one thing we believe is that because she’s been painting sort of continuously since the age of seven years old, she has really enlisted this extra potential and used it. This is how genetics works: it gives you the potential to do things and if the environment demands that you do that thing, then the genes kick in.”[…]

While the natural world is a positive stimulant for Antico, many man-made environments, such as a large shopping centre with fluorescent lighting, have the opposite effect. “I feel very uneasy. I actually avoid going into those kinds of buildings unless I absolutely have to,” she says. “I don’t enjoy the barrage, the massive onslaught of bits of unattractive colour. I mean, there’s a difference between looking at a row of stuff in a grocery store and looking at a row of trees. It’s like, it’s ugly, and the lights are garish. It makes me not happy.”

Another E5 update. At the moment there is a great difference between the control and treated rats. The treated rats are nearing their expected lifespan. And it looks like E5 human trials are trying to be set up.


In this video we report on the Feb 2022 update from Dr. Katcher’s experiment with E5, where he is testing to see how long the rats will stay alive if they are given an E5 injection every 90 days.

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Links for this video.
Sign up for the newsletter from NTZ Publishing here:
https://www.ntzplural.com/newsletter.
Reversing age: dual species measurement of epigenetic age with a single clock.
https://www.biorxiv.org/content/10.1101/2020.05.07.082917v1.full.

Our discussion of original paper.
https://youtu.be/DokfEzQt_wk.
Playlist for Dr. Katcher August 2021 Interview Series.


Playlist 1 for Dr. Katcher.
https://www.youtube.com/playlist?list=PLkfzM7KJv6vaIQZ_n3WS6FHTpBtfS2lzw.

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Researchers from the University of Illinois developed GPU-accelerated software to simulate a cell that metabolizes and grows like a living cell.


Every living cell contains its own bustling microcosm, with thousands of components responsible for energy production, protein building, gene transcription and more.

Scientists at the University of Illinois at Urbana-Champaign have built a 3D simulation that replicates these physical and chemical characteristics at a particle scale — creating a fully dynamic model that mimics the behavior of a living cell.

Published in the journal Cell, the project simulates a living minimal cell, which contains a pared-down set of genes essential for the cell’s survival, function and replication. The model uses NVIDIA GPUs to simulate 7,000 genetic information processes over a 20-minute span of the cell cycle – making it what the scientists believe is the longest, most complex cell simulation to date.

What are biomarkers? They are medical signals that can measure health in an accurate and reproducible way. Common examples include blood pressure readings, heart rate, and even genetic test results.

Modern digital devices measure several health parameters. Fitbit trackers use sensors such as accelerometers to tell how many steps we’ve taken in a day or how fast we’ve been walking. When can such novel health measures function as medical biomarkers?

The measures must be objective, quantifiable, and reproducible. Additionally, scientific evidence needs to show that the health attribute measured by the device maps consistently and accurately to a clinical outcome. For example, voice signals from a smartphone’s microphone can detect mild cognitive impairment due to Alzheimer’s disease. World War II, commanders and troops communicated using hand-sent Morse codes. To avoid capture by enemies, telegraph operators had to remain anonymous. Any clues about operator identity or location could influence battle outcomes.

New technologies have considerably improved scientists’ ability to locate the genetic variations that distinguish our DNA from that of other people. In some instances, these genetic differences give rise to diverse superhuman abilities. There is growing interest in identifying genes associated with special abilities, many of which seem to be inherited. Some consider people like Wim Hof a.k.a the iceman known for the Wim Hof method as a person with superhuman abilities.

As for the future, according to prominent scientists within 30 years, it will probably be possible to make essentially any kind of change to any kind of genome.

#superhuman #science #sciencetime.

Sources:
Supergenes — https://arep.med.harvard.edu/gmc/protect.html.

George Church — Genetic Superpowers: Changing Your Genome and Environment, Harvard Medical School.