#nb181-variant

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#genetics
Medicine
fromNews Center
3 days ago

Uncovering a Genetic Driver of Rare Early-Onset Dementia - News Center

A new genetic risk factor for early-onset frontotemporal dementia has been identified, significantly increasing the odds of developing the disease.
OMG science
fromNature
4 days ago

'Treasure trove' of antiviral proteins could inspire powerful molecular tools

Bacteria possess a vast array of antiviral proteins, identified through machine-learning algorithms, which could lead to innovative biotechnologies.
#genomics
fromNature
5 days ago
Science

The 1000 Chinese Pangenome empowers medical and population genetics - Nature

fromTechCrunch
6 days ago
Data science

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

fromwww.cbc.ca
2 months ago
Public health

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

A genCARE project will map genomes of over 10,000 Black Canadians to enable targeted, equitable care for diseases that disproportionately affect Black communities.
fromwww.theguardian.com
2 months ago
Science

Google DeepMind launches AI tool to help identify genetic drivers of disease

AlphaGenome predicts how mutations alter gene regulation to identify disease-driving variants, map tissue-specific functional elements, and guide gene-therapy design.
fromNature
5 days ago
Science

The 1000 Chinese Pangenome empowers medical and population genetics - Nature

Data science
fromTechCrunch
6 days 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.
fromwww.cbc.ca
2 months ago
Public health

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

SF parents
fromHigh Country News
5 days ago

A DNA archive critical to identifying missing migrants has itself gone missing - High Country News

Colibrí Center's missing-persons database has become inaccessible, leaving families without hope for identifying missing migrants.
#crispr
fromThe Washington Post
2 weeks ago

J. Michael Bishop, who illuminated genetic roots of cancer, dies at 90

Dr. Bishop and Varmus showed that oncogenes - genes that cause cancer - are not foreign genes introduced into the body by viruses, as was widely believed at the time. Instead, normal versions of oncogenes are present in healthy cells, where they help regulate normal growth.
Cancer
#cloning
fromFuturism
1 week ago
OMG science

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

fromNature
1 week ago
OMG science

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

OMG science
fromFuturism
1 week 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
1 week 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.
Artificial intelligence
fromFortune
2 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
1 week 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.
Medicine
fromwww.bbc.com
1 week 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.
fromNature
2 weeks ago

In vivo site-specific engineering to reprogram T cells - Nature

Using CRISPR-Cas9 and adeno-associated virus (AAV)-mediated homology-directed repair, we targeted CAR integration into the endogenous human TCR alpha locus (TRAC). TRAC-CAR T cells display dynamic CAR expression that delays exhaustion and improves tumour control in xenograft and immunocompetent models. This work has been critical for the development of allogeneic CAR T cell therapy, as it disrupts the TCR after transgene insertion—a necessary step to limit graft-versus-host disease.
Cancer
Privacy professionals
fromwww.theguardian.com
3 weeks ago

Confidential health records from UK BioBank project exposed online

UK Biobank researchers have repeatedly exposed confidential health data online, creating privacy risks despite the absence of direct identifiers in the leaked files.
Health
fromInsideHook
3 weeks ago

Medical Experts Recommend a Genetic Test for Heart Disease Risk

The American Heart Association and American College of Cardiology now recommend genetic testing for lipoprotein(a) to identify heart disease risk factors unaffected by diet and lifestyle changes.
fromNature
2 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
2 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.
London startup
fromBusiness Matters
3 weeks ago

BIOCAPTIVA raises 1.58m to transform liquid biopsy sample preparation

BIOCAPTIVA secured £1.58 million funding to commercialize msX technology, which simplifies blood sample preparation for cancer diagnostics by using magnetic bead extraction to isolate cell-free DNA directly from whole blood.
Artificial intelligence
fromwww.npr.org
3 weeks ago

ChatGPT might give you bad medical advice, studies warn

AI chatbots provide medical information to millions daily but often mislead users because people lack training in effectively communicating symptoms to these systems.
Silicon Valley
fromKqed
1 month ago

How South San Francisco Became the Birthplace of Biotechnology | KQED

South San Francisco transformed from an industrial meatpacking and steel manufacturing hub into the world's biotechnology capital, hosting over 250 biotech companies including Genentech.
Medicine
fromNews Center
2 weeks ago

Advancing Epilepsy Research Through Genetic Insights - News Center

Feinberg's Department of Pharmacology receives NIH grants to research genetic causes of childhood-onset epilepsy and develop novel therapeutic strategies.
Venture
from24/7 Wall St.
1 month ago

Forget AI. This Biotech Stock's Taking Off Right Now

AI stocks face correction risk due to rising capital expenditures without proportional profits, making biotech an undervalued alternative for AI-driven growth exposure.
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.
Medicine
fromBusiness Matters
2 weeks ago

UK biotech Ternary raises 3.6m to scale AI platform for next-generation drugs

Ternary Therapeutics secured £3.6 million in seed funding to develop an AI-driven platform for engineering molecular glues, a new class of medicines that bring proteins together to destroy disease-causing targets.
Science
fromNature
3 weeks ago

How bioRxiv changed the way biologists share ideas - in numbers

bioRxiv has grown to over 310,000 preprints since 2013, with neuroscientists as top users and monthly submissions reaching 4,000 by 2025, demonstrating widespread acceptance of preprint publishing in scientific research.
fromwww.theguardian.com
1 month ago

I clicked on a button and everything changed': how a DNA test turned my life upside-down

It was another detail that the rest of the family apparently knew but had never told me; they thought I already knew. The biology mattered less to me than the secret. Dad had been adopted, it turned out. A classic affliction of the 1950s, in which young, unmarried couples were forced to give away their newborn babies.
Books
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
fromNature
3 weeks 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.
Medicine
fromWIRED
3 weeks ago

Japan Approves the World's First Treatment Made With Reprogrammed Human Cells

ReHeart and Amusepri represent breakthrough cell transplant therapies addressing severe heart failure and Parkinson's disease by replacing damaged tissue with functional cells derived from iPS cells.
Cancer
fromenglish.elpais.com
1 month ago

Three sisters and a dilemma: what to do when you inherit a genetic mutation that can cause cancer

Three sisters discovered they carry the BRCA1 gene mutation, which significantly increases breast and ovarian cancer risk, after their cousin's rapid cancer diagnosis prompted family genetic testing.
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
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.
Cancer
fromFuturism
1 month ago

Bacteria Engineered to Eat Tumors From the Inside

Researchers engineered Clostridium sporogenes bacteria to consume tumor cells from inside, offering a potential alternative to traditional cancer treatments.
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.
Medicine
fromwww.scientificamerican.com
1 month ago

Pioneering gene therapy may treat a deadly seizure disorder

Gene therapy drug zorevunersen significantly reduces seizures in Dravet syndrome patients by targeting the underlying SCN1A gene mutation, offering hope for treatment-resistant cases.
fromFortune
1 month ago

Desperate federal investigators weigh using DNA genealogy websites for Nancy Guthrie case | Fortune

The strategy could be fruitful: If unidentified DNA evidence can be connected to someone - even a distant relative - in a common genealogy database, it would give investigators more information and possibly lead to a suspect in Guthrie's kidnapping in Arizona. "It's a fantastic tool," said Ruth Ballard, a geneticist in California who specializes in DNA and has testified in hundreds of court cases. "If it's a good quality sample and they're able to get a profile, they could find a hit on that fairly quickly."
US news
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.
#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.
Medicine
fromNature
1 month ago

World-first stem-cell therapy shows promise for treating spina bifida in the womb

Placenta-derived stem cells applied to exposed fetal spinal cords during in utero surgery show safety and reverse hindbrain herniation in myelomeningocele cases.
UX design
fromVue.js Jobs
1 month ago

UI Software Engineer at Precision Medicine Group - VueJobs

Hands-on UI/UX front-end engineer designs, prototypes, and builds user-centered laboratory applications, leverages AI-assisted tools, and manages third-party UI components for performance and validation.
fromwww.scientificamerican.com
2 months ago

NIH ends fetal tissue research

January 22, 2026 2 min read Add Us On GoogleAdd SciAm The National Institutes of Health's move to end support for research using fetal human tissue is clearly a political decision, not a scientific one, one expert says By Dan Vergano edited by Claire Cameron National Institutes of Health director Jay Bhattacharya speaks at the National Conservatism Conference in Washington, D.C., in 2025.
US politics
Cancer
fromenglish.elpais.com
1 month ago

Douglas Hanahan, biologist: We don't necessarily need a cure, what we really need is cancer without disease'

Cancer cells acquire hallmarks: uncontrolled proliferation, evasion of growth barriers, resistance to programmed death, and relative immortality, driving tumor diversity and treatment variability.
Mental health
fromPsychology Today
2 months ago

Global Study Identifies Genetic Links to Depression

Genetic analyses have identified hundreds of variants linked to depression and revealed existing non-psychiatric drugs as potential treatment candidates.
Public health
fromwww.independent.co.uk
2 months ago

Genetic tests for cancer on NHS to help families detect Jolie' gene

The NHS will build a 120-gene database to improve cancer prevention, enabling earlier screening and personalised treatments for patients and at-risk family members.
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.
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
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
fromSilicon Canals
1 month ago

A brain-based AI test could point to the best antidepressant for you - Silicon Canals

Before treatment began, participants underwent neuroimaging. Instead of relying on a single modality, the researchers fused structural connectivity (how regions are physically wired) with functional connectivity (how regions co-activate at rest). The goal was not to throw every possible feature at a black box, but to learn a constrained pattern-what the authors call structure-function "covariation"-that carries the most predictive signal for outcome. In other words, the model tries to find the smallest set of connections that meaningfully forecasts symptom change.
Mental health
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.
fromNews Center
1 month 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
fromenglish.elpais.com
1 month ago

The largest genetic map of cancer in cats opens the door to treatments shared with humans

Cats, along with dogs, are the animals that spend the most time with humans. They share spaces, routines, and even illnesses. They are exposed to almost all the same environmental stressors that induce tumors in people. However, unlike what happens with dogs, cancer research in felines is very limited. Now, a huge study published in Science, using hundreds of tumor samples, has obtained the most complete oncogenome of the domestic cat.
Medicine
Science
fromwww.dw.com
1 month ago

'Remarkable' new cat cancer genome could benefit humans

Cats and humans develop similar cancers due to shared tumor-causing genetic mutations, suggesting cats could improve cancer research and treatments for both species.
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.
Cancer
fromwww.independent.co.uk
2 months ago

Scientists may have found key to treating hidden cancer growths

Blocking MYC-driven immune suppression exposes pancreatic tumours to the immune system, causing dramatic tumour shrinkage in animals with intact immunity.
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.
Medicine
fromThe Washington Post
1 month ago

David Liu unlocks the power of gene editing to treat rare genetic diseases

Base and prime gene-editing technologies can precisely correct genetic mutations, enabling personalized therapies that can cure life-threatening inherited diseases.
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.
fromNews Center
2 months ago

Experimental Drug Shows Promise for Rare Genetic Disorder - News Center

Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare genetic disorder primarily affecting boys, caused by a deficiency in the enzyme needed to break down sugar molecules. This harmful buildup in cells and tissues impacts multiple body systems, causing frequent infections, organ enlargement and developmental disabilities. Management involves supportive care and enzyme replacement therapy, as there is currently no cure,
Medicine
Medicine
fromNature
1 month 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
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.
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.
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.
Medicine
fromwww.theguardian.com
2 months ago

Simple blood test can predict which breast cancer treatment will work best, study finds

A blood test measuring circulating tumour DNA predicts breast cancer treatment response before or within four weeks, enabling alternative therapies and avoiding ineffective drugs.
Science
fromNature
2 months ago

RNA-triggered Cas12a3 cleaves tRNA tails to execute bacterial immunity - Nature

Some immune systems inactivate tRNAs to impair viral protein synthesis, and certain Cas nucleases, like LshCas13a, can cleave tRNA anticodon loops.
Medicine
fromSilicon Canals
1 month ago

Europe Oncology Genomics Tracker Captures Oncologist Perspectives Across Major European Markets - Data Report by DeciBio Consulting LLC - Silicon Canals

Genomic testing adoption for solid tumor oncology is growing across EU-5 with varied country-specific drivers and infrastructure tracked via a survey of 100+ oncologists.
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.
Medicine
fromIntelligencer
2 months ago

Did AI Alter the Course of This Baby's Life?

A newborn, Jorie, was diagnosed with DeSanto-Shinawi syndrome, a rare, incurable genetic disorder causing neurodevelopmental and physical challenges, with limited treatment options.
Science
fromNature
2 months ago

Now is not the time to defund human fetal tissue research

Restricting federal funding for human fetal tissue research will impede development of replacement technologies and slow discovery of new medicines.
Science
fromNature
2 months ago

An expanded registry of candidate cis-regulatory elements - Nature

The cCRE registry expanded to 2.37 million human and 967,000 mouse elements and integrates functional characterization for over 97% of human cCREs.
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
fromSilicon Canals
1 month ago

This gene mutation on chromosome 11 is why cilantro tastes like dish soap to millions of people - Silicon Canals

Genetic variation in the OR6A2 receptor causes cilantro to taste like soap to some people by detecting aldehyde compounds present in the herb.
Science
fromNews Center
2 months ago

New Underlying Mechanisms May Support Proper Transcriptional Regulation and Improve Targeted Therapies - News Center

BET proteins, particularly BRD4, regulate transcription initiation and elongation independently of bromodomains, with implications for targeted therapeutic development.
fromFortune
2 months ago

AI drug startup Insilico Medicine launches an AI 'gym' to help models like GPT and Qwen be good at science | Fortune

Generalist models "fail miserably" at the benchmarks used to measure how AI performs scientific tasks, Alex Zhavoronkov, Insilico's founder and CEO, told Fortune. " You test it five times at the same task, and you can see that it's so far from state of the art...It's basically worse than random. It's complete garbage." Far better are specialist AI models that are trained directly on chemistry or biology data.
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.
fromwww.nature.com
1 month ago

Author Correction: The genomic landscape of response to EGFR blockade in colorectal cancer

In Extended Data Fig. 8 of this article, a micrograph shown in the left column (panel AZD) was inadvertently duplicated during figure preparation. The intended image was meant to show phospho-ERK (P-ERK) levels in a MAP2K1-mutant patient-derived xenograft (PDX) exposed to the MEK inhibitor AZD6244 (AZD). However, this image was accidentally overlaid with a micrograph from Extended Data Fig. 10 (left column, panel PAN), which displays P-ERK levels in an EGFR-mutant PDX exposed to panitumumab (PAN).
Science
fromFuturism
2 months ago

Scientists Testing Controversial Human Rejuvenation Compound Called ER-100

Cellular reprogramming therapies using Yamanaka factors are entering human trials to reset cells and potentially reverse aging-related damage like glaucoma.
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