Challenge 2 Equipment Looking for funding

Long-read gene sequencing

Understanding the unknown part of the human genome

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Paris Brain Institute is mobilizing, through its iGenSeq core facility, to acquire third generation “long-read” gene sequencing: a technology for reading long DNA fragments that transforms genome analysis in terms of depth and precision.

 

EXPLORE THE UNEXPLORED

Today, more than half of patients with a rare disease remain undiagnosed, as current technologies only access a tiny fraction of the genome.

 

A DECISIVE TECHNOLOGICAL BREAKTHROUGH

With long-read sequencing, it becomes possible to explore non-coding regions, structural variations (large portions of DNA that are duplicated, inverted, or displaced), introns (segments located within genes), and epigenetic mechanisms (modifications that influence gene activity), representing more than 98% of our genome, which until now have been difficult to explore.

 

Thanks to this technology, researchers will be able to read long DNA sequences in one go. This change of scale makes it possible to identify mutations that cannot be detected using conventional methods and to learn more about genetic diseases.

 

FROM THE INVISIBLE TO A SENSE OF HOPE

Identifying the genetic origin of diseases more precisely will make it possible to:

  • significantly increase the diagnosis rate for rare diseases
  • gain a better understanding of complex psychiatric disorders
  • customize treatments based on the patient’s genetic profile
  • contribute to predictive and personalized medicine based on reliable data

 

This development offers real hope for millions of patients suffering from neurological and psychiatric disorders.

““We need to understand what happens between exons, the regions that code proteins, which represent only 2% of the genome. Long-read technology detects anomalies that have not so far been identified. This is a technological breakthrough that will be key to understanding and diagnosing neurological diseases.””

Professor Alexandra Durr
Neurologist (AP-HP), joint leader of the NeuroGen: Brain Development and Dysfunction in Neurogenetic Diseases team

TARGET AMOUNT

€597,170

To fund:

  • The PacBio REVIO, a high-throughput long-read sequencer capable of sequencing eight genomes per day with 99.9% reliability: €514,000
  • The Yourgene LightBench, for sorting and analyzing fragment size: €58,170
  • The Hamilton Microlab prep, a high-precision fragmentation device: €25,000

 

To date, there is still no dedicated comprehensive system of this type for neurological and psychiatric disorders in France.