Featured
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Article
| Open AccessSperm sequencing reveals extensive positive selection in the male germline
A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.
- Matthew D. C. Neville
- , Andrew R. J. Lawson
- & Raheleh Rahbari
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News |
Huntington’s disease treated for first time using gene therapy
Preliminary results from a small trial offer the clearest evidence yet that the brain disease’s progression can be slowed.
- Elie Dolgin
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Article
| Open AccessLoss-of-function mutations in PLD4 lead to systemic lupus erythematosus
PLD4 loss-of-function mutations in patients with systemic lupus erythematosus leads to excessive activation of TLR7 and TLR9.
- Qintao Wang
- , Honghao Zhu
- & Zhihong Liu
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Article
| Open AccessA missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
In mammals, the enzyme TGDS produces UDP-4-keto-6-deoxyglucose, which binds to the catalytic pocket of UDP-xylose synthase, thereby regenerating the essential NAD+ cofactor of UDP-xylose synthase in conditions of low NAD+.
- Jean Jacobs
- , Hristiana Lyubenova
- & Guido T. Bommer
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Research Highlight |
One dose of gene therapy gives years of relief from blood disorder
The average number of bleeding episodes for men with haemophilia B dropped almost tenfold after treatment.
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Clinical Briefing |
Gene therapy could correct blood stem cells inside, rather than outside, the body
Experiments in mice reveal an early postnatal window of opportunity for the effective transfer of genes to blood-cell-producing haematopoietic stem cells by injecting mice with gene-carrying lentiviral vectors. This approach showed therapeutic benefit in three mouse models of severe diseases, and could expand the applicability of haematopoietic stem-cell gene therapy in the clinic.
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Article
| Open AccessSequence diversity lost in early pregnancy
Around 1 in 136 pregnancies is lost due to a pathogenic small sequence variant genotype in the fetus.
- Gudny A. Arnadottir
- , Hakon Jonsson
- & Kari Stefansson
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News |
World first: ultra-powerful CRISPR treatment trialled in a person
Immune-cell function improved in a teenager whose DNA was altered using prime editing.
- Heidi Ledford
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News |
Powerful CRISPR system inserts whole gene into human DNA
‘Directed’ evolution in the laboratory creates an editing tool that outperforms classic CRISPR systems.
- Elie Dolgin
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News |
Rare genetic disorder treated in womb for the first time
The child, who is now almost three years old, shows no signs of the often fatal motor neuron disease.
- Smriti Mallapaty
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Article
| Open AccessSite-saturation mutagenesis of 500 human protein domains
Large-scale experimental analysis of Human Domainome 1, a library containing more than 500,000 missense mutation variants across more than 500 human protein domains, reveals that 60% of pathogenic missense variants reduce stability of protein domains.
- Antoni Beltran
- , Xiang’er Jiang
- & Ben Lehner
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Article |
Normal breast tissues harbour rare populations of aneuploid epithelial cells
Using single-cell DNA sequencing we show that most healthy women harbour rare populations of aneuploid epithelial cells with copy number alteration events in their breast tissue that expand and accumulate with age.
- Yiyun Lin
- , Junke Wang
- & Nicholas Navin
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Article |
Quantifying constraint in the human mitochondrial genome
Development of a constraint model specifically for mitochondrial DNA and applied to data from the Genome Aggregation Database provides insights into which sites in the mitochondrial genome are important for health and disease.
- Nicole J. Lake
- , Kaiyue Ma
- & Monkol Lek
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Article
| Open AccessSingle-cell multi-omics map of human fetal blood in Down syndrome
Using single-cell and multi-omics data of fetal blood, a high-resolution molecular map of dysregulated haematopoiesis in Down syndrome is provided.
- Andrew R. Marderstein
- , Marco De Zuani
- & Ana Cvejic
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News Feature |
Doctors cured her sickle-cell disease. So why is she still in pain?
Gene and cell therapies bring fresh hope to people with genetic disorders, but recovery can be complex and long-term support remains sparse.
- Heidi Ledford
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Comment |
Make gene therapies more available by manufacturing them in lower-income nations
Gene therapies will become more affordable everywhere only if they are developed and manufactured in the regions of the world most in need of them.
- Evelyn Mwesigwa Harlow
- & Jennifer E. Adair
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Research Briefing |
Reverse engineering spinal-cord injury
A compilation of four single-cell and spatial atlases of spinal-cord injury in mice enables researchers to uncover the principles governing biological responses to such injuries. These discoveries are used to develop a gene therapy that can restore neurological functions in mice.
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Article
| Open AccessDe novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.
- Yuyang Chen
- , Ruebena Dawes
- & Nicola Whiffin
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News |
Scientists edit the genes of gut bacteria in living mice
A ‘base editor’ successfully modified a gene in more than 90% of Escherichia coli bacteria without unwanted side effects.
- Gemma Conroy
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News |
Serious errors plague DNA tool that’s a workhorse of biology
Researchers analysed thousands of laboratory-made plasmids and discovered that nearly half of them had defects, raising questions of experimental reproducibility.
- Katherine Bourzac
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Correspondence |
Streamlined collaboration can boost CRISPR gene therapies for rare diseases
- Wei He
- , Shuxiong Zeng
- & Chuanliang Xu
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News Feature |
Hope, despair and CRISPR — the race to save one woman’s life
Researchers in India fought to develop what could have been the first therapy to use gene-editing to halt a rare neurodegenerative disease. The efforts hold lessons for the messy state of modern drug development.
- Heidi Ledford
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News |
The immune system can sabotage gene therapies — can scientists rein it in?
People treated with gene therapy cannot receive a second dose for fear of a dangerous immune response. Researchers hope to find a way around this.
- Heidi Ledford
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News Feature |
How to kill the ‘zombie’ cells that make you age
Researchers are using new molecules, engineered immune cells and gene therapy to kill senescent cells and treat age-related diseases.
- Carissa Wong
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Research Highlight |
CRISPR therapy restores some vision to people with blindness
People with an inherited condition that causes vision loss in childhood had vision improvements after treatment to replace a mutated gene.
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News & Views |
Targeting RNA opens therapeutic avenues for Timothy syndrome
A therapeutic strategy that alters gene expression in a rare and severe neurodevelopmental condition has been tested in stem-cell-based models of the disease, and has been shown to correct genetic and cellular defects.
- Silvia Velasco
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Spotlight |
Stealthy stem cells to treat disease
Gene-editing strategies that allow stem cells to evade the immune system offer hope for universal cell-replacement therapies.
- Elie Dolgin
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News |
‘Epigenetic’ editing cuts cholesterol in mice
Changes to chemical tags on DNA in mice dial down the activity of a gene without cuts to the genome.
- Heidi Ledford
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Technology Feature |
Seven technologies to watch in 2024
Advances in artificial intelligence are at the heart of many of this year’s most exciting areas of technological innovation
- Michael Eisenstein
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News |
How CRISPR gene editing could help treat Alzheimer’s
Some researchers hoping that gene-editing technology can conquer forms of Alzheimer’s caused by genetic mutations.
- Tosin Thompson
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News |
CRISPR 2.0: a new wave of gene editors heads for clinical trials
Landmark approval of the first CRISPR therapy paves the way for treatments based on more efficient and more precise genome editors.
- Heidi Ledford
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News |
UK first to approve CRISPR treatment for diseases: what you need to know
The landmark decision could transform the treatment of sickle-cell disease and β-thalassaemia — but the technology is expensive.
- Carissa Wong
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News |
First trial of ‘base editing’ in humans lowers cholesterol — but raises safety concerns
Super-precise gene-editing approach switches off a gene in the liver that regulates ‘bad’ cholesterol.
- Miryam Naddaf
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News Explainer |
Is CRISPR safe? Genome editing gets its first FDA scrutiny
Advisers to the US regulatory agency will examine the safety profile of a CRISPR-based treatment for sickle-cell disease.
- Heidi Ledford
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News |
Gene therapies for rare diseases are under threat. Scientists hope to save them
As industry steps aside, scientists seek innovative ways to make sure expensive treatments can reach people who need them.
- Heidi Ledford
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News Feature |
‘It’s a vote for hope’: first gene therapy for muscular dystrophy nears approval, but will it work?
The FDA’s decision, expected this month, follows several setbacks and delays and will pose difficult choices for the families of children with Duchenne muscular dystrophy.
- Sara Reardon
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Editorial |
The gene-therapy revolution risks stalling if we don’t talk about drug pricing
Regulation and new intellectual property laws are needed to reduce the cost of gene-editing treatments and fulfil their promise to improve human health.
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News |
‘Astonishing’ molecular syringe ferries proteins into human cells
Technique borrowed from nature, and honed using artificial intelligence, could spur the development of better drug-delivery systems.
- Heidi Ledford
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Nature Index |
How Japanese science is trying to reassert its research strength
Successes in life sciences and international collaboration could be key to boosting the country’s high-quality output.
- Tim Hornyak
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Article
| Open AccessAberrant phase separation and nucleolar dysfunction in rare genetic diseases
Frameshift mutations that create arginine-rich basic tails in transcription factors and other proteins can lead to altered phase separation in the nucleolus, which in turn leads to syndromes such as brachyphalangy, polydactyly and tibial aplasia.
- Martin A. Mensah
- , Henri Niskanen
- & Denes Hnisz
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News Feature |
The race to supercharge cancer-fighting T cells
With a slew of tools to trick out immune cells, researchers are expanding the repertoire of CAR-T therapies.
- Heidi Ledford
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Article
| Open AccessMono- and biallelic variant effects on disease at biobank scale
An analysis of biobank data from the FinnGen project examines dosage effects of genetic variants on disease, andidentifies a benefit when considering more complex inheritance in the genetics of common as well as Mendelian diseases.
- H. O. Heyne
- , J. Karjalainen
- & M. J. Daly
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Nature Index |
Biomedical breakthroughs come of age
Approaches to therapy that have long been stuck in the lab are finally finding their way into the clinic.
- Benjamin Plackett
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Nature Index |
How gene therapy is emerging from its ‘dark age’
After years of setbacks, the field is starting to deliver on its promises.
- Gemma Conroy
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News |
Researchers welcome $3.5-million haemophilia gene therapy — but questions remain
The world’s most expensive drug has the potential to save lives. But it cannot treat the most common form of the disease.
- Miryam Naddaf
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Article
| Open AccessNuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
A study examining DNA transfer from mitochondria to the nucleus using whole-genome sequences from 66,083 people shows that this is an ongoing dynamic process in normal cells with distinct roles in different types of cancer.
- Wei Wei
- , Katherine R. Schon
- & Patrick F. Chinnery
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News |
CRISPR ‘cousin’ put to the test in landmark heart-disease trial
Gene-therapy test launches pivotal year for precise genome-editing technique known as base editing.
- Heidi Ledford
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News |
Gene therapy’s comeback: how scientists are trying to make it safer
Unwanted immune responses threaten to derail some gene therapies. But researchers are seeking ways to combat harmful inflammation.
- Heidi Ledford
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Analysis
| Open AccessA joint NCBI and EMBL-EBI transcript set for clinical genomics and research
Matched Annotation from NCBI and EMBL-EBI (MANE) delivers joint transcript sets from Ensembl/GENCODE and RefSeq for standardizing variant reporting in clinical genomics and research.
- Joannella Morales
- , Shashikant Pujar
- & Terence D. Murphy