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Category: biotech/medical – Page 2

Long-read DNA test lifts rare disease diagnoses and could replace 15 other tests

A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often. The test can replace 15 other tests, making it faster and more efficient. Researchers from Radboud university medical center recommend in the New England Journal of Medicine that this test be adopted everywhere as the first choice for rare genetic disorders.

A condition is considered rare if it affects fewer than 1 in 2000 people. Nevertheless, up to 400 million people worldwide have a rare disease, as there are more than 7,000 different types. Eighty percent of these have a genetic cause. A diagnosis often takes years to obtain. Yet a diagnosis is important: It provides clarity, insight into the future, contact with others in similar situations, and the possibility to assess risks when planning to have children.

Researchers from Radboudumc and Maastricht UMC+ are working together to increase the chances of diagnosing genetic disorders. They compared current standard diagnostics—often involving multiple tests to reach a diagnosis—with a new DNA test in 1000 patients.

Scientists May Have Found a Protein That Spreads Aging

Ok so, the parabiosis was a temporary effect, but the answer turned out to be having a blood transfusion with yourself instead. So if this video is right there is a molecule called HMGB1 which can be blocked rather than having said transfusion.

Scientists may have identified one of the molecules that helps aging spread through the body.
Block HMGB1 in mice → less inflammation, better muscle regeneration, improved tissue repair.
The next wave of longevity therapies may focus on stopping aging signals, not just repairing the damage.

Prevalence and Modes of Transmission of Hepatitis C Virus Infection: A Historical Worldwide Review

Hepatitis C virus infection affects over 58 million individuals and is responsible for 290,000 annual deaths. The infection spread in the past via blood transfusion and iatrogenic transmission due to the use of non-sterilized glass syringes mostly in developing countries (Cameroon, Central Africa Republic, Egypt) but even in Italy. High-income countries have achieved successful results in preventing certain modes of transmission, particularly in ensuring the safety of blood and blood products, and to a lesser extent, reducing iatrogenic exposure. Conversely, in low-income countries, unscreened blood transfusions and non-sterile injection practices continue to play major roles, highlighting the stark inequalities between these regions. Currently, injection drug use is a major worldwide risk factor, with a growing trend even in low- and middle-income countries (LMICs). Emerging high-risk groups include men who have sex with men (MSM), individuals exposed to tattoo practices, and newborns of HCV-infected pregnant women. The World Health Organization (WHO) has proposed direct-acting antiviral (DAA) therapy as a tool to eliminate infection by interrupting viral transmission from infected to susceptible individuals. However, the feasibility of this ambitious and overly optimistic program generates concern about the need for universal screening, diagnosis, linkage to care, and access to affordable DAA regimens. These goals are very hard to reach, especially in LMICs, due to the cost and availability of drugs, as well as the logistical complexities involved. Globally, only a small proportion of individuals infected with HCV have been tested, and an even smaller fraction of those have initiated DAA therapy. The absence of an effective vaccine is a major barrier to controlling HCV infection. Without a vaccine, the WHO project may remain merely an illusion.

Scientists Revived Activity in a Disembodied Human Brain

Further Reading.

Thumbnail image credit: Not alive, but not dead… FEATURED SCIENCE ARTICLE.
MRI image: Britannica: brain.
anatomy.

Not alive, but not dead: disembodied human brains used for drug testing.
https://www.science.org/content/artic…

Restoration of brain circulation and cellular functions hours.
https://pubmed.ncbi.nlm.nih.gov/30996…

Science #explained #brains #organoid #sciencenews

Sleep and exercise may curb heart risk from mutant white blood cells

Healthy sleep and regular exercise can work to counteract genetic mutations in white blood cells that are associated with cardiovascular disease and are most common among older people, Mount Sinai researchers have found. In a study published in Nature, the team reported for the first time that sufficient sleep and exercise can help reduce the cancer-like cell expansion and atherosclerotic risk linked to mutations that spontaneously occur in white blood cells.

These mutations accumulate over our lifetimes and occur most often in hematopoietic stem cells, which are the cells in bone marrow that make blood cells, including macrophages and monocytes, immune cells that help defend the body. When these cells develop mutations, they start to proliferate, multiplying faster than they should, and become more inflammatory, irritating or damaging tissues in the body.

This condition, known as clonal hematopoiesis (CH), is detectable in a quarter of people over age 70 and half of people over 80, the researchers say, though it is infrequent in young, healthy people.

Frontiers: For nearly a decade, the idea that ‘the body keeps the score’ has shaped public and clinical understanding of trauma (van der Kolk, 2014)

It is an enticing metaphor—implying that experience is literally inscribed in flesh, that the body bears the scars of what the mind cannot face. Yet recent advances in computational and systems neuroscience reveal that this image, while emotionally compelling, is biologically inaccurate. The body proper does not store trauma; the brain dynamically reenacts it through maladaptive inference. What endures after trauma is not a memory lodged in non-innervated tissue but a collapse of flexibility—a loss of metastability, the brain’s ability to fluidly switch among semi-stable network states.

In computational terms, trauma over-weights the precision of danger priors: the brain assigns excessive confidence to threat predictions, constraining inference based on the prior premise of enduring danger. The result is hypervigilance, flashbacks, and avoidance—symptoms of a system caught in self-confirming predictions. Mathematically, this overconfidence means one cannot escape local minima—in a free energy landscape—that become deeply and precisely engrained (i.e., trapped in a ravine with steep sides, where precision corresponds to the local curvature or steepness).

This rigidity contrasts with a healthy brain’s metastable dynamics, where neuronal networks continually integrate and segregate in response to context. This allows neuronal dynamics to explore multiple (unstable) interpretations of the world. Hellyer and colleagues demonstrated that metastability is a hallmark of cognitive flexibility: the capacity for neural coalitions to assemble transiently and adapt quickly. Using both empirical and computational approaches, Hellyer et al. (2015) showed that reduced metastability arising from damage to the structural connectome was associated with diminished cognitive flexibility and impaired information processing. Trauma erodes this fluidity, trapping the brain in narrow basins of fear and defensive salience. To restore mental health is not about ‘releasing’ stored emotion but reestablishing dynamic equilibrium enabling the brain’s ability to move with graceful agility over a landscape of beliefs, commitments and intentions.

Third electrode pair can sharpen deep brain stimulation technique, mouse experiments suggest

A study by UNIGE, in collaboration with ETH Zurich, has significantly improved the accuracy of a noninvasive brain stimulation technique, paving the way for its use in the treatment of neurological and psychiatric disorders.

Brain stimulation techniques can correct abnormal activity in the neural circuits involved in conditions such as Parkinson’s disease and depression. However, current transcranial stimulation methods delivered through the scalp reach only the brain’s surface, limiting their effectiveness. Deep brain stimulation, on the other hand, can target deeper structures but requires surgical implantation of electrodes.

A team from the Synapsy Center for Neuroscience and Mental Health Research at the University of Geneva (UNIGE), in collaboration with ETH Zurich, the Wyss Center Geneva and EPFL, has improved a promising intermediate technology called “temporal interference stimulation.” This method could allow deeper and more targeted noninvasive brain stimulation. The study is published in Cell Systems.

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