Featured
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Article |
Evidence for 28 genetic disorders discovered by combining healthcare and research data
By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.
- Joanna Kaplanis
- , Kaitlin E. Samocha
- & Kyle Retterer
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Technology Feature |
A menagerie of stem-cell models
When conventional laboratory models fail, stem cells from squirrels, seals and other species can come to researchers’ aid.
- Jyoti Madhusoodanan
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News |
‘CRISPR babies’ are still too risky, says influential panel
The safety and efficacy of genome editing in human embryos hasn’t been proven, researchers warn.
- Heidi Ledford
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Outlook |
Cystic fibrosis
Innovative therapies are bringing hope to people with this inherited lung disorder.
- Herb Brody
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Outlook |
Gene therapy could offer an inclusive cure for cystic fibrosis
After three decades of false starts, gene therapy against the disease is in new clinical trials — and there is even hope of a cure.
- Roxanne Khamsi
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Article |
The National Lung Matrix Trial of personalized therapy in lung cancer
Current outcomes are reported from the ongoing National Lung Matrix Trial, an umbrella trial for the treatment of non-small-cell lung cancer in which patients are triaged according to their tumour genotype and matched with targeted therapeutic agents.
- Gary Middleton
- , Peter Fletcher
- & Lucinda Billingham
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News & Views |
Mitochondrial genome editing gets precise
A bacterial toxin has been found that allows DNA in a cellular organelle called the mitochondrion to be precisely altered. This development could help to combat diseases caused by mutations in mitochondrial DNA.
- Magomet Aushev
- & Mary Herbert
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Article |
Whole-genome sequencing of patients with rare diseases in a national health system
Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.
- Ernest Turro
- , William J. Astle
- & Willem H. Ouwehand
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Article |
Chromosomal alterations among age-related haematopoietic clones in Japan
Population-specific patterns of genomic mutations and selection of haematopoietic clones in Japanese and European participants predict the divergent rates of chronic lymphocytic leukaemia and T cell leukaemia in these populations.
- Chikashi Terao
- , Akari Suzuki
- & Yoichiro Kamatani
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Article
| Open AccessA structural variation reference for medical and population genetics
A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.
- Ryan L. Collins
- , Harrison Brand
- & Michael E. Talkowski
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Article
| Open AccessTranscript expression-aware annotation improves rare variant interpretation
A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.
- Beryl B. Cummings
- , Konrad J. Karczewski
- & Daniel G. MacArthur
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Research Highlight |
Gene therapy shows promise for a disease that steals young men’s vision
Trial shows the safety of a treatment for X-linked retinitis pigmentosa.
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Innovations In |
Gene Therapy Arrives
After false starts, drugs that manipulate the code of life are finally changing lives.
- Jim Daley
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Innovations In |
All of Us
DNA-based medicine needs more diversity to avoid harmful bias. One big research project is fixing that.
- Stephanie Devaney
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Innovations In |
23 and Baby
We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.
- Tanya Lewis
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Innovations In |
The Power of Spheres
DNA or RNA molecules, arranged into spherical shapes, can attack brain cancers and other illnesses that evade conventional drug design.
- Chad A. Mirkin
- , Christine Laramy
- & Kacper Skakuj
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Editorial |
Expensive treatments for genetic disorders are arriving. But who should foot the bill?
The majority of people with sickle-cell disease are live in the world’s poorest communities and cannot afford the eye-watering costs of treatments.
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News Feature |
Gene therapy is facing its biggest challenge yet
After finally gaining traction as a potential treatment for certain genetic disorders, gene therapy tackles the challenge of sickle-cell disease.
- Heidi Ledford
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Article |
The molecular landscape of ETMR at diagnosis and relapse
Analyses of primary and relapse samples of embryonal tumours with multilayered rosettes provide insights into the molecular mechanisms that underlie the development and opportunities for the treatment of this deadly disease.
- Sander Lambo
- , Susanne N. Gröbner
- & Marcel Kool
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Nature Podcast |
Podcast: Quantum supremacy and ancient mammals
Listen to the latest from the world of science, with Nick Howe and Shamini Bundell.
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News |
Russian ‘CRISPR-baby’ scientist has started editing genes in human eggs with goal of altering deaf gene
Denis Rebrikov also told Nature that he does not plan to implant gene-edited embryos until he gets regulatory approval.
- David Cyranoski
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Nature Index |
Stem-cell and genetic therapies make a healthy marriage
This scientific partnership could fight everything from blood diseases to HIV.
- Bianca Nogrady
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News |
Experimental gene therapy frees ‘bubble-boy’ babies from a life of isolation
Treatment restores immune-system function in young children with severe disorder.
- Heidi Ledford
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Outlook |
Four technologies that could transform the treatment of blindness
A decade ago, clinicians had nothing to offer most people affected by retinal degeneration. Breakthroughs in genetics, bionics and stem-cell therapy are changing that.
- Simon Makin
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News |
World Health Organization panel weighs in on CRISPR-babies debate
Advisory committee calls for a global registry of studies that involve editing the human genome.
- Sara Reardon
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Outlook |
Gene therapy
Gene tinkering opens the door to treatments for an array of diseases
- Herb Brody
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Outlook |
Gene therapy targets sickle-cell disease
The research is promising, but a true cure for this painful condition could be years away.
- Anna Nowogrodzki
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Outlook |
Gene therapy targets epilepsy
Anti-seizure medication doesn’t work in every person with epilepsy. But a treatment option is emerging that would spare the need for brain surgery.
- Liam Drew
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Outlook |
A genetically augmented future
Gene therapy could one day be used for bodily enhancement, creating an ethical minefield for physicians, says Ellen Wright Clayton.
- Ellen Wright Clayton
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Outlook |
Designer viruses could be the secret to cheaper and better gene therapy
Researcher and entrepreneur Luk Vandenberghe thinks he can transport genes into cells much more efficiently by improving the viral vectors that carry them.
- Neil Savage
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Outlook |
Change the genes to fix the skin
The largest organ in the body is a prime target for gene therapy.
- Kat Arney
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Outlook |
Prenatal gene therapy offers the earliest possible cure
Cancelling out an illness before a child is born offers the most potential benefit.
- Sarah DeWeerdt
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Outlook |
Access and affordability for all
The hope of gene therapy could be crushed by its financial burden unless there are more rational ways of paying for it, says Michael Sherman.
- Michael Sherman
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Outlook |
Regulating the gene-therapy revolution
The medical regulatory authorities ride a wave of clinical studies for gene therapies.
- Eric Bender
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News |
How the genome-edited babies revelation will affect research
Some scientists worry the startling claim will lead to knee-jerk regulations and damage the public’s trust in gene editing.
- David Cyranoski
- & Heidi Ledford
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News Feature |
How Facebook and Twitter could be the next disruptive force in clinical trials
Participants in medical research are more empowered than ever to influence the design and outcomes of experiments. Now, researchers are trying to keep up.
- Heidi Ledford
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News |
First test of in-body gene editing shows promise
Preliminary results suggest that treatment for rare disease is safe, but its effectiveness is unclear.
- Heidi Ledford
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News |
Gene-silencing technology gets first drug approval after 20-year wait
The US Food and Drug Administration’s decision breathes new life into RNA-interference therapies.
- Heidi Ledford
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Nature Podcast |
Podcast: DNA scaffolds, climate-altering microbes, and a robot chemist
Listen to the latest science news, brought to you by Benjamin Thompson and Noah Baker.
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News |
Gene therapy in mouse fetuses treats deadly disease
The method could minimize damage from disease if a condition is diagnosed in utero.
- Heidi Ledford
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News |
CRISPR gene editing produces unwanted DNA deletions
DNA-cutting enzyme used for genetic modification can create large deletions and shuffle genes.
- Heidi Ledford
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Nature Podcast |
Backchat: Lab health, email briefings, and CRISPR
Benjamin Thompson hosts our regular roundtable discussion, with guests Heidi Ledford, Flora Graham, and Richard van Noorden.
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News |
Genetically modified bacteria enlisted in fight against disease
Engineered strains of E. coli and other microbes are being tested in people to combat a slew of illnesses.
- Sara Reardon
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Outlook |
How the gene behind Huntington’s disease could be neutralized
Antisense oligonucleotides are providing researchers and patients with fresh hope of targeting the condition’s genetic cause.
- Liam Drew
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Outlook |
CRISPR takes on Huntington’s disease
Gene editing offers the prospect of curing the inherited neurodegenerative condition in a single dose.
- Michael Eisenstein
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Editorial |
How to get public engagement right
Dialogue with the public requires a nuanced approach and a willingness to accept uncomfortable truths.
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Article |
De novo mutations in regulatory elements in neurodevelopmental disorders
Analysis of rare de novo mutations in gene regulatory elements suggests that 1–3% of patients with neurodevelopmental disorders carry such mutations in elements that are active in the fetal brain.
- Patrick J. Short
- , Jeremy F. McRae
- & Matthew E. Hurles