Toggle light / dark theme

Down syndrome’s unique cancer risk profile mapped across lifespan

Children with Down syndrome have a significantly increased risk of leukemia, while adults have a lower risk of several common solid tumors, according to a new register study from Karolinska Institutet published in the British Journal of Cancer. The results may contribute to more tailored cancer screening guidelines.

In a large, Swedish population-based register study, the risk of different cancer types in individuals with Down syndrome was mapped across the lifespan. The results show a markedly increased risk of leukemia during childhood, with a nearly 500-fold increased risk of acute myeloid leukemia (AML) before age 5, and a 20-fold increased risk of acute lymphoblastic leukemia (ALL). Despite this, only 2.5% of all individuals with Down syndrome developed leukemia during childhood.

In adulthood, however, a clearly reduced risk was observed for most solid tumors, including breast, prostate, lung, colorectal, and gynecological cancers, as well as melanoma. Although the study showed an overall lower cancer risk in adults, there was an increased risk of testicular cancer, as well as new associations between Down syndrome and certain rare forms of bone cancer.

Electronic informed consent in research on rare diseases sees strong participant interest

Research on rare diagnoses and the development of precision medicine depend on patients being able to share their health data in a secure and ethical manner. The research study, published in Scientific Reports, in which a digital platform was developed to collect electronic informed consent, shows that many participants want to contribute to research and appreciate the digital solution, but also that the technology needs further development.

A digital consent platform was tested at three centers in Sweden, Stockholm, Gothenburg, and Lund. More than 2,200 individuals who had previously undergone whole-genome sequencing were invited to give consent electronically for research and data sharing.

For those who lacked an electronic identity verification system, or who preferred traditional methods, paper-based consent was also available. As a comparison, a national patient cohort within Undiagnosed Diseases Network Sweden (UDN Sweden) was studied, where recruitment took place in close collaboration with patient organizations.

Sprint or marathon? Aging muscle stem cells shift from rapid repair to long-term survival

Aging muscles heal more slowly after injury—a frustrating reality familiar to many older adults. A UCLA study conducted in mice reveals an unexpected cause: Stem cells in aged muscle accumulate higher levels of a protein that slows their ability to activate and repair tissue, but helps the cells survive longer in the harsh environment of aging tissue.

The findings, published today in the journal Science, suggest that some molecular changes associated with getting older may actually be protective adaptations rather than purely detrimental effects.

“This has led us to a new way of thinking about aging,” said Dr. Thomas Rando, senior author of the new study and director of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

The Path to Scalable Psychiatric Gene Therapy and a Future of Cures for Widespread Mental Illnesses

Hey everyone! I wrote a proposal on creating massively scalable gene therapy delivery systems towards unlocking cures for widespread debilitating psychiatric diseases! Would love for folks to take a read and provide constructive suggestions to iterate this vision. [ https://substack.com/home/post/p-186453159]


Restoring joy to a billion lives.

Cellular survivorship bias as a mechanistic driver of muscle stem cell aging

Aging is characterized by a decline in the ability of tissue repair and regeneration after injury. In skeletal muscle, this decline is largely driven by impaired function of muscle stem cells (MuSCs) to efficiently contribute to muscle regeneration. We uncovered a cause of this aging-associated dysfunction: a cellular survivorship bias that prioritizes stem cell persistence at the expense of functionality. With age, MuSCs increased expression of a tumor suppressor, N-myc down-regulated gene 1 (NDRG1), which, by suppressing the mammalian target of rapamycin (mTOR) pathway, increased their long-term survival potential but at the cost of their ability to promptly activate and contribute to muscle regeneration. This delayed muscle regeneration with age may result from a trade-off that favors long-term stem cell survival over immediate regenerative capacity.

Signs of Sir Terry Pratchett’s dementia may have been hidden in his books

Signs of Sir Terry Pratchett’s dementia may have been present in his writing a decade before his official diagnosis, new research has found. Researchers have examined the lexical diversity—a measure of how varied an author’s word choices are—of 33 books from Pratchett’s Discworld series, focusing specifically on his use of nouns and adjectives.

The study found that Pratchett’s language in “The Lost Continent,” written almost 10 years before his diagnosis of posterior cortical atrophy (PCA), a rare form of Alzheimer’s, showed a significant decline in the complexity of the language used compared to his previous works.

The research team hopes that the study may aid in the early detection of dementia, for which there is currently no cure. The work is published in the journal Brain Sciences.

The Physics of Belief: Placebo Effects as Quantum Psychosomatics and the Material Reality of Meaning

Read “” by Myk Eff on Medium.


When a patient in a clinical trial experiences genuine pain relief from an inert sugar pill, something remarkable occurs that contemporary medicine awkwardly labels the placebo effect — a term that simultaneously acknowledges the phenomenon while dismissing it as mere illusion. Yet what if this dismissal represents not scientific rigor but ontological timidity? What if the placebo effect, rather than being a confounding variable to be controlled away, is actually nature’s clearest demonstration of a quantum interface between consciousness and physiology, hiding in plain sight within the very architecture of our clinical trials? The question is not whether belief heals, but what belief actually is when we take seriously the contemporary understanding that information itself possesses physical reality.

The empirical robustness of placebo effects has become impossible to ignore. In their comprehensive meta-analysis published in The Lancet, Hróbjartsson and Gøtzsche (2001) examined 114 clinical trials and found that while placebo effects vary considerably across conditions, they demonstrate genuine clinical significance in pain reduction, with effect sizes rivaling those of established pharmaceutical interventions. More provocatively, Benedetti’s research on placebo analgesia has revealed that the effect operates through identifiable neurochemical pathways — placebo-induced pain relief can be blocked by naloxone, an opioid antagonist, demonstrating that the patient’s belief literally triggers the release of endogenous opioids (Benedetti, Mayberg, Wager, Stohler, & Zubieta, 2005). This is not imagination overriding reality; this is imagination as a physical force, translating expectation into molecular cascade.

Yet the standard neurobiological explanation, while accurate, remains curiously incomplete. Yes, belief activates specific neural circuits; yes, these circuits trigger biochemical responses; yes, measurable physiological changes occur. But this mechanistic account merely pushes the mystery one level deeper. How does the abstract informational content of a belief — the semantic meaning this pill will relieve my pain — couple to the physical substrate of neurons and neurotransmitters? The conventional answer invokes learning, conditioning, and expectation, but these terms describe the phenomenon without explaining the fundamental ontological transition from meaning to matter, from information to effect.

Toxin Stops Colon Cancer Growth, Without Harming Healthy Tissue

Researchers in Sweden have identified an unexpected biological mechanism that could influence future cancer treatments. Scientists in Sweden have uncovered an unexpected anti-cancer effect from a molecule produced by the bacteria responsible for cholera. In a new study from Umeå University, resea

/* */