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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Giving participants something in return.

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Rare genetic disease caused by mutations in protein that controls RNA metabolism

Scienmag

Credit: UPMC PITTSBURGH, May 7, 2021 – In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.

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Rare genetic disease may protect Ashkenazi Jews against TB

Medical Xpress

Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less susceptible to tuberculosis (TB).

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Discrimination lawsuit against HHMI spotlights barriers faced by scientists with disabilities

STAT News

But after Cheung herself developed a genetic condition so rare it doesn’t have an official name, causing her to start losing her vision, HHMI decided to stop funding her.

Scientist 136
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Scientists discover new genetic disease that delays brain development in children

Scienmag

Credit: Gretel Nicholson, EXRC Scientists have discovered a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.

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General Design Methods for mRNA Drugs

Pharma Mirror

This represents an increasingly promising field of precision medicine, holding significant prospects for preventing and treating numerous challenging or genetic diseases. Scientists have been striving to optimize mRNA stability, immunogenicity, translation efficiency, and delivery systems to achieve efficient and safe mRNA delivery.

In-Vitro 130
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STAT+: CRISPR patent fight redux? A new battle is brewing among biotechs over next-gen gene-editing tools

STAT News

Tessera Therapeutics chief scientist Michael Holmes had just finished presenting a much-anticipated peek at a technology the company had previously said could “ revolutionize genetic medicine ” and “cure nearly any genetic disease.”