Articles on Genetic disease

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New genome editing technologies mean that the genetic modification of embryos is a scientific possibility, and laws governing its practice require extensive public consultation. (Shutterstock)

South Africa amended its research guidelines to allow for heritable human genome editing

A recent change to South Africa’s national health research guidelines contains newly added language that appears to permit the use of genome editing to create genetically modified children.
Multiple gene variants are linked to Parkinson’s disease, but which ones are the most relevant? dra_schwartz/E+ via Getty Images

Newly discovered genetic variant that causes Parkinson’s disease clarifies why the condition develops and how to halt it

No treatments are currently available to cure Parkinson’s disease. Better understanding the genetic foundation of this condition can help researchers find ways to slow or halt its progression.
For many people with fragile X, the mutated gene that causes symptoms is active rather than silenced. Thom Leach/Science Photo Library

Fragile X syndrome often results from improperly processed genetic material – correctly cutting RNA offers a potential treatment

Fragile X syndrome is the most common inherited form of intellectual disability. Using short bits of DNA to fix improperly transcribed genes may one day be a potential treatment option.
Your genetic material instructs your cells to produce the proteins encoded in it. Juan Gaertner/Science Photo Library via Getty Images

Helping cells become better protein factories could improve gene therapies and other treatments – a new technique shows how

Gene therapies and vaccines are often injected into muscle cells that are inefficient at producing desired proteins. Making them work more like liver cells could lead to better treatment outcomes.
Crystal jellyfish contain glowing proteins that scientists repurpose for an endless array of studies. Weili Li/Moment via Getty Images

From CRISPR to glowing proteins to optogenetics – scientists’ most powerful technologies have been borrowed from nature

Three pioneering technologies have forever altered how researchers do their work and promise to revolutionize medicine, from correcting genetic disorders to treating degenerative brain diseases.
A complete human genome, seen here in pairs of chromosomes, offers a wealth of information, but it is hard connect genetics to traits or disease. HYanWong/Wikimedia Comons

Scientists are on a path to sequencing 1 million human genomes and use big data to unlock genetic secrets

The first full human genome was sequenced 20 years ago. Now, a project is underway to sequence 1 million genomes to better understand the complex relationship between genetics, diversity and disease.

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