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SSC: Genomics in Thrombosis and Hemostasis
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Genomics in Thrombosis and Hemostasis Subcommittee

The aim of the Working Group is to develop an approach to assist in reducing the time to diagnosis of rare platelet and bleeding disorders, by taking advantage of advances in Next generation sequencing (NGS) and selective capture technologies. For this potential to be fully realized, it is essential to develop a publicly accessible database that will provide stable reference DNA sequences with respect to which sequence variants that are known to be associated with rare inherited disorders can be mapped.

If you are interested in the subcommittee and want to follow its activity, please click "join group" above to sign up as a member (follower). 

Mandate

  • Curation of gene sequences, transcripts and known variants causative of rare platelet and bleeding disorders.
  • Databasing of genes and causative variants to provide a stable and sustainable frame of reference suitable for clinical application.
  • Integration of sequence variation data with other data such as population variation, pathways, gene expression, protein structures and clinical phenotype information.
  • Platform development, to allow the simultaneous testing of all known platelet and bleeding disorders in one next generation sequencing (NGS) test.

Role

The following are the ongoing activities and responsibilities of the Subcommittee.

  • Selection of the most likely gene sequence and primary transcript from existing data sources (e.g. Ensembl, RefSeqGene).
  • Curation of clinical variantsfrom existing sources such as other databases and publications.
  • Recruitment of ISTH experts to approve gene sequences, primary transcripts and clinical variants.
  • Provision of tools to assist in the curation and approval process.
  • Ensure the databasing of curated information into a stable and sustainable open access database.
  • Development of a Next Generation Sequencing platform for the simultaneous testing of all known platelet and bleeding disorders.
  • Banking of DNA from patients with known diagnosis for the purposes of testing the NGS platform.
Projects

If you are a member of the Society and would like to know how to participate in the work of this group, please join the group to receive updates on activity or submit an Expression of Interest Form to the Chairman or any of the Co-Chairmen. We would be pleased to learn of your interest.

Official Communications

Additional Resources

Recent Forum Activity
2016 Annual Minutes
Posted by: Willem Ouwehand H, Tuesday, June 28, 2016
Forum: Annual Minutes
2015 Annual Minutes
Posted by: Lacey Schmeidler, Thursday, July 9, 2015
Forum: Annual Minutes
2014 Annual Minutes
Posted by: Willem Ouwehand H, Thursday, June 19, 2014
Forum: Annual Minutes
2013 Annual Minutes
Posted by: Willem Ouwehand H, Wednesday, June 19, 2013
Forum: Annual Minutes
 View All Forums »

Related Group News

ISTH Awards the Robert P. Grant Medal to J. Evan Sadler
Posted in ISTH News, Monday, November 26, 2018

The International Society on Thrombosis and Haemostasis (ISTH) has awarded the Robert P. Grant Medal, the highest honor of the Society, to J. Evan Sadler, ... more »

 View All News »

Chairman
Kathleen Freson
Co-Chair
Daniel Bellissimo
Co-Chair
Andrew Johnson
Co-Chair
Michele P. Lambert
Co-Chair
Patrizia Noris
Co-Chair
Willem Ouwehand H
Co-Chair
David Tregouet

 

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