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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers].

Hiroyuki Ishiura1, Shoji Tsuji

  • 1Department of Neurology, Graduate School of Medicine, The University of Tokyo.

Rinsho Shinkeigaku = Clinical Neurology
|January 27, 2012
PubMed
Summary

Next-generation sequencing identified the FLVCR1 gene mutation causing posterior column ataxia with retinitis pigmentosa (PCARP) in a small family. This advance enables genetic discovery for rare hereditary neurodegenerative disorders.

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Next-generation sequencing (NGS) has revolutionized genetic analysis, shifting focus from gene sequencing to variant significance.
  • Identifying causative genes for hereditary disorders, especially in small families, remains challenging.

Observation:

  • A small consanguineous family with two affected members presented with posterior column ataxia with retinitis pigmentosa (PCARP).
  • Target capture and NGS were employed for genetic analysis.

Findings:

  • A causative mutation in the FLVCR1 gene was successfully identified.
  • The identified FLVCR1 mutation cosegregated with the PCARP phenotype in the family.

Implications:

  • NGS technology facilitates rapid identification of disease-causing genes in small or sporadic hereditary neurodegenerative disorders.
  • This approach provides critical insights into disease pathogenesis and opens avenues for future research.