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Leveraging Genetic Testing for Enrolling Rare Disease Trials

Worldwide Clinical Trials

Written By: Derek Ansel, MS, CCRA, Executive Director, Therapeutic Strategy Lead, Rare Disease Given that 80% of rare diseases have a genetic etiology, genetic implications should be addressed at the onset of a clinical program to support trial enrollment.

Genetics 189
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Study suggests DNA sequencing could reduce infant deaths, often caused by genetic disease

STAT News

Researchers who believe genomics can transform human health love to recount success stories. But a new study focuses on a much more somber set of stories: those of infants who died with genetic diseases and who in some cases could have been treated, perhaps even saved. Read the rest…

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Study finds 41% of infant deaths associated with genetic diseases

Medical Xpress

In a study appearing today in JAMA Network Open, Rady Children's Institute for Genomic Medicine (RCIGM) researchers found that the contribution of genetic diseases to infant deaths was higher than previously recognized.

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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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Hopewell Therapeutics raises funds for genomic medicines development

Pharmaceutical Technology

Biotechnology company Hopewell Therapeutics has raised $25m in seed financing to accelerate the development of next-generation lipid nanoparticles for targeted delivery of genomic medicines. Hopewell Therapeutics is engaged in discovering, synthesising and developing advanced ttLNPs to provide next-generation genomic medicines.

Genome 130
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New approach to diagnosing genetic diseases using RNA sequencing increases yield

Scienmag

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.

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Abu Dhabi DoH signs new deal to accelerate development in life sciences

Pharmaceutical Technology

The Abu Dhabi Department of Health (DoH) in the UAE has made a declaration of collaboration with Mass General Brigham’s (MGB) International Center for Genetic Disease (iCGD) to advance life sciences.