Leukoseq: A Targeted Genome Sequencing Cohort Analysis of Paediatric Leukodystrophy

Taft, Ryan and Simons, Cas (2013): Leukoseq: A Targeted Genome Sequencing Cohort Analysis of Paediatric Leukodystrophy. The University of Queensland. Collection.

 
Related Publications and Datasets
 
Project name Leukoseq
Project description
Leukodystrophies are inherited diseases that result from the pathological reduction of myelin, the dielectric material that insulates axons in the human brain. Children suffering from a leukodystrophy have substantial morbidity and mortality, with more than a third dying by age eight. Unfortunately, despite the fact that the incidence of these diseases is relatively high (at least 1 in 7,000 births), more than half of all leukodystrophy patients are never fully diagnosed – i.e. the inherited mutation at the root of their affliction remains unknown.

In this research project, we are harnessing the power of next generation sequencing technology to identify novel gene variants that cause leukodystrophy, the first step required to develop treatments for this disease. To achieve this, we are currently in the process of sequencing the genomes and/or exomes (i.e. the subset of the genome that contains protein coding genes) of approximately 300 children affected by these illnesses and, where possible, their unaffected family members. In total we will be sequencing the exomes of more than 1000 individuals.

In the pilot phase of this project, we have identified the genetic basis of two novel types of leukodystrophy. These two discoveries were reported as back-to-back publications in the high-ranking American Journal of Human Genetics in April 2013. These cases have been of significant public interest and gained substantial media attention. Indeed, it is one of the first to show that by interrogating the genomes of previously “undiagnosable” children, we can not only uncover the cause of their illness, but in the process identify entirely new diseases. We have every expectation that our follow-on cohort study will be similarly successful.

Contact name Cas Simons
Contact email c.simons@imb.uq.edu.au
Creator name Taft, Ryan
Simons, Cas
Creator(s) role Chief Investigator
Lead Computational Biologist
Dataset name Leukoseq: A Targeted Genome Sequencing Cohort Analysis of Paediatric Leukodystrophy
Dataset description
In this research project, we are harnessing the power of next generation sequencing technology to identify novel gene variants that cause leukodystrophy, the first step required to develop treatments for this disease. To achieve this, we are currently in the process of sequencing the genomes and/or exomes (i.e. the subset of the genome that contains protein coding genes) of approximately 300 children affected by these illnesses and, where possible, their unaffected family members. In total we will be sequencing the exomes of more than 1000 individuals.

Data will be primarily be one of several standard data formats for genomic data. All large files will either be binary files or compressed and indexed text files. A small Postgres database is also needed for the webapp.
Access conditions Mediated Access
ANZSRC Field of Research (FoR) Code 0604 Genetics
Type of data fastq.gz
.bam
vcf.gz
Data Volume 80TB
Language eng
Keyword Leukodystrophy
Gene variants
Myelin reduction
Paediatrics
Exomes
Collection type Collection
Publisher The University of Queensland
Publication Year 2013
Copyright notice 2013, The University of Queensland

 
Versions
Version Filter Type
Citation counts: Google Scholar Search Google Scholar
Created: Tue, 18 Mar 2014, 10:53:38 EST by Belinda Weaver