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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. One diagnostic example that I discussed in my presentation is autism.

Genetics 168
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Whole-genome sequencing used to track down genes behind familial glioma

Medical Xpress

A team of gene therapists, oncologists, genetic sequencing experts and neurosurgeons affiliated with a host of institutions in the U.S. and one in Sweden has uncovered gene variants that appear to be responsible for passing on familial glioma from parent to offspring.

Genome 97
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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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Uncovering packaging impurities with rAAV genome sequencing

Drug Discovery World

Join DDW for this exclusive free event, ‘ rAAV genome sequencing with Oxford Nanopore uncovers transgene integrity and packaging impurities ’. Recombinant adeno-associated viruses (rAAVs) are considered a promising delivery system for gene therapy medicines. The event will be supported by Oxford Nanopore Technologies.

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Genetic tests unexpectedly find genes linked to heart disease—now what?

Medical Xpress

Increasing use of genetic testing means people may discover they have a gene variant associated with some types of cardiovascular disease (CVD).

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World's largest autism whole genome sequencing study reveals 134 autism-linked genes

Medical Xpress

Researchers from The Hospital for Sick Children (SickKids) have uncovered new genes and genetic changes associated with autism spectrum disorder (ASD) in the largest autism whole genome sequencing analysis to date, providing better understanding into the 'genomic architecture' that underlies this disorder.

Genome 75
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New approach successfully traces genomic variants back to genetic disorders

Medical Xpress

A genotype-first approach to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding uncovered new relationships between genes and clinical conditions, broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders.

Genome 75