#genetic-diseases

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fromenglish.elpais.com
19 hours ago

Parents' umbilical cord dilemma: Donate or preserve, even if it may never be used

The probability that frozen tissue will benefit the person who froze it is remote. The chance of developing acute lymphoblastic leukemia, the most common childhood cancer, currently stands at one in 20,000.
Medicine
#genetics
Medicine
fromNews Center
2 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.
Medicine
fromNews Center
2 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.
#crispr
#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.
History
fromMedievalists.net
1 week ago

Medieval Knight with Rare Genetic Disorder Identified in Spain - Medievalists.net

A knight with craniosynostosis lived and fought in medieval Spain, identified through remains found at Zorita de los Canes castle.
fromenglish.elpais.com
2 weeks ago

100 experts were unable to agree on whether aging is an illness, or when it begins

The most prevalent human mortality risk factor, aging, seems to still be hidden in the mist, states the article summing up the survey's results that was published in the journal PNAS Nexus.
Health
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
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.
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.
fromwww.scientificamerican.com
3 weeks ago

FDA declines to approve drug touted by Trump as a treatment for autism

The U.S. Food and Drug Administration on Tuesday approved leucovorin, a synthetic form of vitamin B9, as a treatment for a rare genetic condition that causes folate deficiencies in the brain. The decision comes just months after U.S. president Donald Trump, Secretary of Health and Human Services Robert F. Kennedy, Jr., and FDA chief Marty Makary lauded the drug as a treatment for autism.
Alternative medicine
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.
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
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.
Public health
fromwww.bbc.com
1 month ago

Emergency sickle cell help extended after campaign

Royal London Hospital's sickle cell emergency unit will remain open permanently after receiving £1m additional investment following a successful pilot campaign.
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.
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.
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.
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
#gene-therapy
fromenglish.elpais.com
4 weeks ago
Medicine

Genetic patch curbs Dravet syndrome, a disorder with seizures triggered by geometric patterns

A gene-regulatory treatment called zorevunersen dramatically reduces seizures in children with Dravet syndrome, reducing monthly seizures from 20 to approximately one per year.
fromwww.scientificamerican.com
1 month ago
Medicine

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.
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.
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
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
fromPsychology Today
1 month ago

The Process of Being Diagnosed With a Rare Condition

Sphincter of Oddi dysfunction is a rare condition affecting digestive juice flow that causes severe abdominal pain and is often overlooked in medical diagnosis despite being treatable.
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
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.
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
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.
Public health
fromNature
2 months ago

Nationwide genetic screening proves effective at catching disease risk early

Early genetic screening in young adults can identify hereditary cancer and familial hypercholesterolaemia risk before symptoms, but generalizability and cost-benefit require evaluation.
Philosophy
fromApaonline
2 months ago

The Moral Life of Organs in an Age of Technological Innovation

Transplant technology is rapidly expanding organ viability through advanced perfusion, preservation, and logistics while implementation outpaces oversight and public input.
fromwww.theguardian.com
1 month ago

Giving stem cells in utero to babies with spina bifida boosts quality of life, trial finds

A trial in the US found that applying stem cells from the mother's placenta to her baby's spine while it was being repaired was safe and improved the child's mobility and quality of life. Dr Diana Farmer, who led the study, said it was conceivable that the experimental therapy could become the usual way that spina bifida is treated before babies are born.
Medicine
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.
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.
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.
Mental health
fromPsychology Today
2 months ago

Very Different Psychiatric Diagnoses Share Common Genes

Alcohol, cannabis, opioid, and nicotine use disorders share substantial genetic liability and cluster together as a single brain disorder, supporting a unified addiction-liability.
Mental health
fromPsychology Today
1 month ago

The Effect of Family History on Brain Injury

Knowing one’s family history and cultural roots is essential to reclaim identity, process grief, and repair relationships after catastrophic brain injury.
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.
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.
Mental health
fromPsychology Today
2 months ago

The Power of Community in Huntington's Disease

A gene-positive, asymptomatic Huntington's Disease carrier hesitates to join community support due to isolation, pride, and fear, but recognizes potential benefits.
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.
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
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
fromTechCrunch
1 month 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.
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
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
fromwww.theguardian.com
2 months ago

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.
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.
Medicine
fromHarvard Gazette
1 month 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.
fromwww.independent.co.uk
2 months ago

Rare genetic form of diabetes detected in newborn babies for first time

From reproductive rights to climate change to Big Tech, The Independent is on the ground when the story is developing. Whether it's investigating the financials of Elon Musk's pro-Trump PAC or producing our latest documentary, 'The A Word', which shines a light on the American women fighting for reproductive rights, we know how important it is to parse out the facts from the messaging.
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.
fromTODAY.com
2 months ago

They Were Told Their Baby Would Not Survive. This Family Chose Hope Instead

"I remember sitting in the ultrasound room," Mornhineway, 30, tells TODAY.com. "Our hearts dropped. They said there was nothing to be done. Most people terminate."
Medicine
Medicine
fromLGBTQ Nation
2 months ago

These 4 promising breakthroughs are bringing HIV researchers closer to a cure - LGBTQ Nation

Significant scientific advances have produced promising combination therapies and experimental approaches that have eliminated HIV in rare cases but no widely scalable cure exists yet.
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