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Junk DNA: How the dark genome is changing RNA therapies

Drug Discovery World

Samir Ounzain , PhD, CEO & Co-Founder of HAYA Therapeutics, looks at how a better understanding of our DNA can lead to increased activity for RNA therapeutics. In actuality, the protein-coding portion of our genome is comparable in identity and number with the humble fruit fly or worm.

RNA 52
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A new dawn of the genomic age: five areas set to be transformed in 2023

pharmaphorum

In March, the collaborative T2T consortium published the first complete telomere-to-telomere sequence of the human genome, filling in the last 8% of the 3 billion base pairs that make up our DNA. Fulfilling the promise of genomics depends on having the most accurate and complete picture of genetic variation as possible.

Genome 128
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Why genomic healthcare data matters in the development of new therapies 

Drug Discovery World

One might argue that this all started getting exciting with the launch of the Human Genome Project, which the National Human Genome Research Institute consider to be one of the greatest scientific feats in history 1. DDW’s Megan Thomas observes developments of accessibility in this sector and the potential impact. .

Genome 98
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Genomic projects exploit scale as clinical applications play catch-up

Pharmaceutical Technology

Earlier this month, scientists from Cambridge University and the Madrid-based National Cancer Research Center described a novel framework tracking chromosomal instability and copy number changes in particularly deadly cancers. At the same time, other patterns are more recent and unique to the cancer cell, he adds.

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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

To do so, they tested how using a genomic medicine team of specialist doctors, bioinformaticians, and scientists could boost the capabilities of NHS diagnostic laboratories beyond the standard semi-automated analysis of data. . This personalised approach increased the diagnostic rate from 16.7% of patients. . Official comments .

Genome 52
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The pangenome is making personalised medicine more equitable

Pharmaceutical Technology

Basic human traits such as eye and hair colour are determined by our DNA. metres of supercoiled DNA contained within its nucleus. If you were to uncoil all the DNA in your body into a single continuous strand it would be 54 trillion metres in length, enough to stretch from the Earth to the Sun and back 180 times.

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Q&A: Gene therapy opportunities from long-read sequencing 

Drug Discovery World

The key difference between the two technologies is that long-read sequences are more effective at unambiguously determining how all the pieces of a sequenced genome fit together. Genomic sequencing plays an essential role in the discovery of novel pathogens and detecting their changing biology, helping to improve disease surveillance.