#human-genetics-research

[ follow ]
fromIndependent
3 hours ago

'It will be life-changing': Screening for two devastating genetic disorders in newborns to begin today

The heel prick test will now be accompanied by testing for spinal muscular atrophy (SMA), a rare muscle-wasting condition that can potentially lead to a child's death by the age of two.
Medicine
#ai-in-healthcare
fromWIRED
2 days ago
Health

Meta's New AI Asked for My Raw Health Data-and Gave Me Terrible Advice

Health
fromWIRED
2 days ago

Meta's New AI Asked for My Raw Health Data-and Gave Me Terrible Advice

Medical experts express concerns about uploading personal health data to AI models due to privacy and control issues.
Medicine
fromwww.bbc.com
2 days ago

ChatGPT 'uncovered woman's rare condition' after years of misdiagnosis

AI helped diagnose a rare condition after years of misdiagnosis, leading to genetic confirmation of hereditary spastic paraplegia.
Cancer
fromNews Center
3 days ago

Long Non-Coding RNA May be a Promising Therapeutic Target for Cancer - News Center

A long non-coding RNA, IGF1R-AS1, activates oncogenic pathways in prostate cancer, highlighting its potential as a therapeutic target.
fromThe Washington Post
4 days ago

Customs wrongly canceled Harvard scientist's visa over frog embryos, judge rules

U.S. District Judge Christina Reiss ruled that the government unlawfully canceled Petrova's J-1 visa, stating that the government failed to cite any authority allowing Customs and Border Protection officers to cancel the visa for failing to declare the embryos.
US news
#aging
fromNature
6 days ago
OMG science

This method to reverse cellular ageing is about to be tested in humans

Yuancheng Ryan Lu's research on reprogramming retinal nerve cells could lead to restoring eyesight and rejuvenating organs.
fromHarvard Gazette
1 week ago
Health

Rethinking what it means to age - Harvard Gazette

Living longer does not equate to living healthier, as many older adults face chronic health conditions.
OMG science
fromNature
6 days ago

This method to reverse cellular ageing is about to be tested in humans

Yuancheng Ryan Lu's research on reprogramming retinal nerve cells could lead to restoring eyesight and rejuvenating organs.
Health
fromHarvard Gazette
1 week ago

Rethinking what it means to age - Harvard Gazette

Living longer does not equate to living healthier, as many older adults face chronic health conditions.
Artificial intelligence
fromArs Technica
4 days ago

Meta's Superintelligence Lab unveils its first public model, Muse Spark

Meta's Muse Spark introduces Contemplating mode, enhancing performance with multiple agents and improved reinforcement learning for better accuracy and efficiency.
Science
fromHarvard Gazette
5 days ago

The questions that keep scientists up at night - Harvard Gazette

Major unanswered questions in various scientific fields continue to challenge researchers, highlighting the limits of current knowledge and the potential impact of future discoveries.
#gene-editing
Medicine
fromArs Technica
3 days ago

Clinical trial shows gene editing works for -Thalassaemia, too

An improved gene editing system reactivates a fetal hemoglobin gene to treat β-Thalassaemia, building on CRISPR's success with sickle-cell anemia.
Medicine
fromArs Technica
3 days ago

Clinical trial shows gene editing works for -Thalassaemia, too

An improved gene editing system reactivates a fetal hemoglobin gene to treat β-Thalassaemia, building on CRISPR's success with sickle-cell anemia.
#psychedelics
Cannabis
fromFuturism
1 week ago

Scientists Gene Hacked a Plant So It Grows Five Types of Psychoactive Drugs at Once

Genetically engineered tobacco plants can produce five different psychedelics, potentially enabling sustainable production for therapeutic use.
Medicine
fromwww.theguardian.com
6 days ago

Scientists identify neural fingerprint' of psychedelic drugs in the brain

Psychedelic drugs produce a shared neural fingerprint in the brain, indicating a common impact on brain behavior during their mind-altering effects.
Cannabis
fromFuturism
1 week ago

Scientists Gene Hacked a Plant So It Grows Five Types of Psychoactive Drugs at Once

Genetically engineered tobacco plants can produce five different psychedelics, potentially enabling sustainable production for therapeutic use.
Medicine
fromwww.theguardian.com
6 days ago

Scientists identify neural fingerprint' of psychedelic drugs in the brain

Psychedelic drugs produce a shared neural fingerprint in the brain, indicating a common impact on brain behavior during their mind-altering effects.
Data science
fromInfoWorld
6 days ago

Databricks launches AiChemy multi-agent AI for drug discovery

AiChemy integrates various data sources to enhance research efficiency in pharmaceutical companies.
Health
fromHarvard Gazette
3 days ago

Expanding the fight against heart disease - Harvard Gazette

New guidelines emphasize lifelong heart disease prevention starting in childhood, integrating advanced risk assessment tools and targeting high-risk populations.
Science
fromNature
1 week ago

Why the US needs a unified, mission-based strategy for health innovation

Research investments in the U.S. need to adapt to modern challenges and prioritize innovative approaches for better health outcomes.
Silicon Valley
fromSilicon Canals
1 week ago

Silicon Valley startup backed by Tim Draper pitches growing brainless human clones for organ harvesting and brain transplants - Silicon Canals

A Silicon Valley startup is developing brainless cloned human bodies for organ sourcing and potential brain transplants.
#genetics
Health
fromThe Washington Post
1 week ago

One way to live longer: Win the genetic lottery

Genetic factors account for about 50% of human lifespan, significantly higher than the previously estimated 20%.
Health
fromThe Washington Post
1 week ago

One way to live longer: Win the genetic lottery

Genetic factors account for about 50% of human lifespan, significantly higher than the previously estimated 20%.
#genomics
fromTechCrunch
1 week ago
Data science

Mantis Biotech is making 'digital twins' of humans to help solve medicine's data availability problem | TechCrunch

fromNature
1 week ago
Science

The 1000 Chinese Pangenome empowers medical and population genetics - Nature

fromwww.cbc.ca
2 months ago
Public health

New project aims to map genomes of Black Canadians, provide better health outcomes | CBC News

Data science
fromTechCrunch
1 week ago

Mantis Biotech is making 'digital twins' of humans to help solve medicine's data availability problem | TechCrunch

Large language models can enhance genomics and clinical practices, but struggle with rare diseases due to data scarcity.
fromNature
1 week ago
Science

The 1000 Chinese Pangenome empowers medical and population genetics - Nature

fromwww.cbc.ca
2 months ago
Public health

New project aims to map genomes of Black Canadians, provide better health outcomes | CBC News

Medicine
fromNature
5 days ago

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders - Nature

De novo variants in RNU4-2 cause ReNU syndrome, a neurodevelopmental disorder characterized by developmental delays and other severe symptoms.
#cloning
OMG science
fromNature
2 weeks ago

Can a mouse be cloned indefinitely? Decades-long experiment has answers

Asexual reproduction in mice is unsustainable due to accumulating mutations, limiting the potential for successful cloning.
Science
fromFuturism
1 week ago

A Startup Has Been Quietly Pitching Cloned Human Bodies to Transfer Your Brain Into

Cloning efforts have evolved from animals to controversial human embryo models, with ambitions for brainless human clones for organ transplants.
OMG science
fromFuturism
2 weeks ago

Scientists Cloned a Mouse, Then Cloned the Clone, Et Cetera. The Results Were Horrific

Cloning mice for 58 generations led to immediate death of offspring, revealing limits to mammalian cloning.
OMG science
fromNature
2 weeks ago

Can a mouse be cloned indefinitely? Decades-long experiment has answers

Asexual reproduction in mice is unsustainable due to accumulating mutations, limiting the potential for successful cloning.
Science
fromFuturism
1 week ago

A Startup Has Been Quietly Pitching Cloned Human Bodies to Transfer Your Brain Into

Cloning efforts have evolved from animals to controversial human embryo models, with ambitions for brainless human clones for organ transplants.
OMG science
fromFuturism
2 weeks ago

Scientists Cloned a Mouse, Then Cloned the Clone, Et Cetera. The Results Were Horrific

Cloning mice for 58 generations led to immediate death of offspring, revealing limits to mammalian cloning.
fromFast Company
6 days ago

AI is coming for superbugs

Antibiotics are essential for modern medicine, but bacteria are evolving and developing resistance, turning routine infections into life-threatening conditions. A global analysis estimates that antibiotic-resistant infections could cause over 39 million deaths by 2050.
Medicine
fromSlate Magazine
3 weeks ago

Jeffrey Epstein Had an Obsession With DNA. It's Part of a Dark History.

A strange part of the strange life of Jeffrey Epstein was his obsession with the genome. And with ways to "improve" that genome-including by adding more of his own genes to humanity's gene pool. Epstein, culpable for so much, was also a believer in eugenics, the manipulation of reproduction and of genes to create "better" humans.
Right-wing politics
fromFast Company
1 week ago

New study finds 1 small organ may play vital role in longevity

These findings reposition the thymus as a central regulator of immune‑ mediated aging and disease susceptibility in adulthood.
Health
Medicine
fromNature
6 days ago

Scientists invented a fake disease. AI told people it was real

Bixonimania is a fabricated medical condition that highlights the dangers of misinformation in AI-generated health advice.
Artificial intelligence
fromFortune
3 weeks ago

Could data from 100 million species help cure disease? One startup is betting on it | Fortune

Basecamp Research launches the Trillion Gene Atlas to map genetic diversity across 100 million species, aiming to expand biological knowledge 100-fold through AI-powered genomic data collection.
Science
fromNature
2 weeks ago

Zombieland: Genome transplant brings 'dead' bacteria back to life

Researchers have revived 'dead' bacterial cells by replacing their DNA with a working genome from another species, advancing genome engineering.
OMG science
fromHarvard Gazette
3 weeks ago

Ultra-cool step toward transformative technologies - Harvard Gazette

Harvard physicists enhanced a pressure measurement device with quantum sensors to study superconductors, revealing new insights into why promising superconductor materials produce inconsistent results.
Cancer
fromHarvard Gazette
1 month ago

Unlocking hidden pocket on a billiondollar drug target - Harvard Gazette

Researchers discovered a hidden binding pocket on cereblon protein that enables more selective and safer cancer drug design through targeted protein degradation.
Medicine
fromHarvard Gazette
2 weeks ago

Study suggests healing skin without scarring may be possible - Harvard Gazette

Researchers have discovered a way to reactivate embryonic skin regeneration mechanisms in mice, potentially allowing for scar-free healing in humans.
Science
fromNature
3 weeks ago

Synthetic circuits for cell ratio control - Nature

Synthetic biology enables artificial cell differentiation and division of labor by engineering genetic and epigenetic circuits that mimic natural stem cell asymmetric division processes.
Mental health
fromPsychology Today
1 month ago

A Genetic Map Redrawing the Borders of Mental Illness

Five broad genetic families underlie 14 psychiatric disorders, suggesting diagnostic categories reflect shared biological landscapes rather than distinct diseases.
fromHarvard Gazette
1 month ago

Hope for hard-to-treat heart disease

Some 1 million patients in the U.S. live with a type of heart disease called heart failure with preserved ejection fraction, or HFpEF, caused by a stiffening of a chamber of the heart that makes it much more challenging to distribute blood throughout the body. The condition has few approved therapies and high mortality rates.
Miscellaneous
Medicine
fromwww.bbc.com
2 weeks ago

Scotland becomes first in UK to test newborns for rare genetic condition

Scotland is the first UK region to test newborns for Spinal Muscular Atrophy, enabling early treatment to improve life expectancy.
Left-wing politics
fromTruthout
1 month ago

Reproductive Tech That Promises Smart Babies Is Peddling Soft Eugenics

Reproductive tech companies now offer embryo genetic screening for intelligence and disease, raising concerns about eugenics, disability discrimination, and wealth-based genetic enhancement.
Science
fromFuturism
4 weeks ago

New Data Centers Will Be Powered by Human Brain Cells

Cortical Labs is building biological data centers using living human neurons as computing units, consuming far less power than traditional AI processors.
fromCornell Chronicle
1 month ago

Experts to examine the use of generative AI in science | Cornell Chronicle

Generative AI is now incorporated into the workflow for many scholars across many disciplines, but the broader scientific community would benefit from taking stock of how this technology could truly benefit our work and how it might distract. We hope the symposium can provide clarity.
Higher education
fromNature
3 weeks ago

Masked mitochondria slip into cells to treat disease in mice

When mitochondria are exposed to tissue or blood, they lose the electrical gradient across their outer membrane. Mitochondria that lack such a gradient are recognized by a cell's internal machinery as damaged and quickly destroyed. The vast majority of previous studies involved injecting 'naked' mitochondria directly into the bloodstream or tissue sites, but the approach isn't very efficient, so researchers often have to use 'ridiculous' doses of mitochondria.
Medicine
Science
fromNature
1 month ago

From cancer to Alzheimer's: could a renewed focus on energy transform biomedicine?

Energy flow, governed by universal physics principles, provides a more fundamental understanding of biological processes and disease than molecular mechanisms alone.
#genetic-screening
fromNature
2 months ago
Public health

Nationwide genetic screening proves effective at catching disease risk early

fromNature
2 months ago
Public health

Nationwide genetic screening proves effective at catching disease risk early

Tech industry
from24/7 Wall St.
2 months ago

NVIDIA Just Made a Bigger Push Into AI Drug Discovery

Nvidia's stock has traded sideways for six months despite strong AI demand and strategic deals that may enable an eventual breakout.
fromBoston.com
1 month ago

'My scientific career is essentially over.' A brain drain imperils Massachusetts' biomedical future.

Over two-thirds said they recommend their students consider careers outside academia. The majority had delayed hiring in their labs, and one-third had laid off workers. More than one in six said they have lost researchers to institutions in other countries since Trump took office. Sixty-eight percent said funding cuts and federal policy changes had moderately or significantly reduced the scope of their work.
Science
fromHarvard Gazette
2 months ago

AI is speeding into healthcare. Who should regulate it? - Harvard Gazette

Whenever medical AI handles anything with medium to high risk, you want regulation: internal self-regulation or external governmental regulation. It's mostly been internal thus far, and there are differences in how each hospital system validates, reviews, and monitors healthcare AI. When done on a hospital-by-hospital basis like this, costs to do this kind of evaluation and monitoring can be significant, which means some hospitals can do this, and some can't.
Public health
fromNews Center
2 months ago

AI Model May Improve RNA Sequencing Research - News Center

Scientists in the laboratory of Rendong Yang, PhD, associate professor of Urology, have developed a new large language model that can interpret transcriptomic data in cancer cell lines more accurately than conventional approaches, as detailed in a recent study published in Nature Communications. Long-read RNA sequencing technologies have transformed transcriptomics research by detecting complex RNA splicing and gene fusion events that have often been missed by conventional short-read RNA-sequencing methods.
Cancer
Science
fromNature
1 month ago

Daily briefing: How DNA testing can tell identical twins apart

Advanced forensic techniques including whole-genome sequencing and epigenetic analysis can differentiate between identical twins in criminal investigations, while GLP-1 drugs show potential in reducing addiction across multiple substances, and researchers have successfully synthesized hexagonal diamond.
fromHarvard Gazette
1 month ago

Tracking mysteries of loss of Y chromosome, cancer - Harvard Gazette

The Y chromosome primarily carries genes that provide instructions for male sex differentiation and fertility. But it also carries some known to suppress tumor growth - a protective ability that is lost if those genes are damaged or destroyed.
Health
Higher education
fromHarvard Gazette
1 month ago

How academia can help America heal - Harvard Gazette

An educational 'caste system' privileges elite-university graduates, restricts social mobility, and fuels populist resentment and distrust of institutions.
Science
fromArs Technica
1 month ago

Large genome model: Open source AI trained on trillions of bases

Evo 2, an AI system trained on trillions of base pairs from all life domains, can identify genes, regulatory sequences, and splice sites in complex genomes including humans.
OMG science
fromHarvard Gazette
2 months ago

Why did that cancer cell become drug-resistant? - Harvard Gazette

TimeVault records and stores cellular gene-expression history inside living cells, enabling retrieval of past gene-activity information to study differentiation, stress responses, adaptation, and drug resistance.
Science
fromFuturism
1 month ago

Harvard Professor Says AI Users Are Losing Cognitive Abilities

Excessive AI chatbot use causes cognitive decline and critical thinking atrophy, particularly among students and low-income populations relying on AI for homework completion.
fromwww.theguardian.com
2 months ago

Google AI Overviews cite YouTube more than any medical site for health queries, study suggests

Google's search feature AI Overviews cites YouTube more than any medical website when answering queries about health conditions, according to research that raises fresh questions about a tool seen by 2 billion people each month. The company has said its AI summaries, which appear at the top of search results and use generative AI to answer questions from users, are reliable and cite reputable medical sources such as the Centers for Disease Control and Prevention and the Mayo Clinic.
Public health
fromwww.nature.com
1 month ago

Genetically encoded assembly recorder temporally resolves cellular history

GEMINI leverages a computationally designed protein assembly as an intracellular memory device to record the history of individual cells. GEMINI grows predictably within live cells, capturing cellular events as tree-ring-like fluorescent patterns for imaging-based retrospective readout. Absolute chronological information of activity histories is attainable with hour-level accuracy.
Public health
fromHarvard Gazette
2 months ago

Taking a fresh look at definition of autism - Harvard Gazette

Proposals for a separate high-needs or 'profound autism' category risk promoting segregation and political labeling rather than reflecting clear scientific distinctions.
Medicine
fromThe Atlantic
1 month ago

Their Mutated Genes Were Supposed to Be Harmless

People who carry single-gene mutations for disorders like thalassemia can experience real health effects, including lethargy and fainting, despite being labeled asymptomatic.
fromNature
1 month ago

Is a 'selfish gene' making a Utah family have twice as many boys as girls?

Such sex 'distorters' have been discovered - and studied in great depth - in laboratory animals such as mice and flies, in which their effects can be detected through selective breeding. 'If you look, more often than not, you find them,' says Nitin Phadnis, an evolutionary geneticist at the University of Utah in Salt Lake City, who co-led the study.
Science
Medicine
fromNature
2 months ago

How DeepMind's genome AI could help solve rare disease mysteries

AlphaGenome uses AI to predict effects of non-coding DNA mutations, helping interpret previously triaged variants and aiding diagnosis of undiagnosed rare diseases.
Medicine
fromHarvard Gazette
2 months ago

Turns out inherited eye diseases aren't a sure thing - Harvard Gazette

Only a minority of people carrying certain inherited eye-disease gene variants actually develop the disease, exposing strong ascertainment bias and new therapeutic opportunities.
fromArs Technica
1 month ago

Have we leapt into commercial genetic testing without understanding it?

Martschenko's argument is largely that genetic research and data have almost always been used thus far as a justification to further entrench extant social inequalities. But we know the solutions to many of the injustices in our world-trying to lift people out of poverty, for example-and we certainly don't need more genetic research to implement them. Trejo's point is largely that more information is generally better than less.
Science
Science
fromNature
2 months ago

Construction of complex and diverse DNA sequences using DNA three-way junctions - Nature

DNA writing remains limited by short oligo synthesis and two-way junction assembly methods, hindering affordable, scalable construction of large, complex synthetic DNA.
Science
fromNature
2 months ago

'Remote controlled' proteins illuminate living cells

Engineered magnetically sensitive fluorescent proteins enable remote modulation of brightness in cells and animals, offering quantum-based control for biosensors and potential therapies.
Medicine
fromenglish.elpais.com
1 month ago

The very long road from a cancer cure' in mice to one in humans

Promising mouse cancer cures often fail to become safe, effective human drugs; premature media claims can create false patient expectations and hinder responsible research progress.
Medicine
fromHarvard Gazette
2 months ago

New AI tool predicts brain age, dementia risk, cancer survival - Harvard Gazette

BrainIAC, a brain imaging adaptive core, accurately extracts multiple disease risk signals from routine brain MRIs using self-supervised learning and limited training data.
fromNature
1 month ago

AI tools can design genomes. Will they upend how life evolves?

Biology is undergoing a transformation. After centuries of studying life as it evolves naturally, researchers are now using a combination of computation and genome engineering to intervene, generating new proteins and even whole bacteria from scratch. The use of artificial-intelligence tools to design biological components, an approach known as generative biology, is set to turbocharge this area of research. Just last year, scientists used AI-assisted design to produce artificial genes that can be expressed in mammalian cells.
Science
Medicine
fromNature
2 months ago

China's biotech boom: why the nation must collaborate to stay ahead

China leads in drug manufacturing and biotech innovation, but geopolitical scrutiny and moves toward a closed biotech ecosystem threaten scientific collaboration and global medicine access.
Science
fromMail Online
2 months ago

Scientists use AI to create a virus never seen before

Scientists used AI and gene-assembly tools to create Evo-Φ2147, a novel 11-gene virus designed to kill pathogenic E. coli.
#jeffrey-epstein
fromFuturism
2 months ago
Science

Jeffrey Epstein Had a Bizarre Obsession With "Improving" Human DNA, and He Was Emailing With Top Scientists About It

fromFuturism
2 months ago
Science

Jeffrey Epstein Had a Bizarre Obsession With "Improving" Human DNA, and He Was Emailing With Top Scientists About It

Science
fromwww.scientificamerican.com
2 months ago

Google DeepMind unleashes new AI to investigate DNA's dark matter'

AlphaGenome predicts functional effects of mutations in long noncoding DNA sequences up to one million base pairs, helping interpret genomic variants for disease research.
Science
fromwww.scientificamerican.com
2 months ago

How long you live may depend much more on your genes than scientists thought

Heritability of human lifespan roughly doubles to about 50% when extrinsic mortality is removed, showing a stronger genetic influence on intrinsic aging.
Science
fromwww.nature.com
2 months ago

Scalable and multiplexed recorders of gene regulation dynamics across weeks

CytoTape enables multiplexed, genetically encoded, spatiotemporally scalable recording of gene regulation dynamics in single cells for up to three weeks with minute-scale resolution.
Science
fromFast Company
2 months ago

Scientific breakthroughs are redefining what's possible with asteroids, cancer research, and neurotech

Cross-disciplinary collaborations and AI enable breakthroughs—asteroid deflection, immunotherapy mapping, and vestibular control—advancing capability to protect and improve human life.
Science
fromWIRED
2 months ago

He Went to Prison for Gene-Editing Babies. Now He's Planning to Do It Again

He Jiankui created the first gene-edited babies, was jailed and banned, and now seeks to resume controversial genetic research despite widespread germline-editing prohibitions.
Science
fromTechCrunch
2 months ago

How AI is helping solve the labor issue in treating rare diseases | TechCrunch

AI multiplies scientific productivity, automating drug discovery tasks to tackle workforce shortages and accelerate development of treatments for thousands of neglected and rare diseases.
fromHarvard Gazette
2 months ago

How COVID-era trick may transform drug, chemical discovery - Harvard Gazette

Laboratories turned to a smart workaround when COVID‑19 testing kits became scarce in 2020. They mixed samples from several patients and ran a single test. If the test came back negative, everyone in it was cleared at once. If it was positive, follow-up tests would zero in on who was infected. That strategy, known as group testing, saved valuable time, money, and resources.
Science
Science
fromNature
2 months ago

Developmental convergence and divergence in human stem cell models of autism - Nature

Distinct rare mutations and common genetic variation jointly shape ASD risk, yet convergent molecular pathology and early fetal neurodevelopmental mechanisms can be studied using stem-cell models.
[ Load more ]