ISTH-SSC 2016: Genomics in Thrombosis and Hemostasis

27 May 2016

More information about the session on “Genomics in Thrombosis and Hemostasis” at ISTH-SSC in Montpellier in May.


The session will be on Friday 27 May afternoon, “Rondelet” room with:

  • Jose Maria Bastida, Spain – Design and Application of a Twenty-Three-Gene Panel by Next-Generation Sequencing for Inherited Coagulation Bleeding Disorders.
  • Kate Downes, United Kingdom – ThromboGenomics High Throughput Sequencing Platform.
  • Ernest Turro, United Kingdom – Statistical Challenges of Identifying the Genetic Determinants of Rare Diseases.
  • Kathleen Freson, Belgium – Assigning Pathogenicity Status to DNA Variants.
  • Karyn Megy, United Kingdom & Muriel Giansily-Blaizot, France – Reference Variant Databases.
  • Martinez Gomez, Spain – Regulation of Haemostasis by miRNAs: Implications for Thrombus Formation.
  • Shinji Kunishima, Japan – Differential Diagnosis of Congenital Macrothrombocytopenia.
  • Giovanni Cimmino, Italy – Reprogramming of Platelet Mirnome Induced by Activation.
  • Leonard Edelstein, United States – Common Gene Variations Affecting Platelet Function.
  • José Rivera Pozo, Spain – Phenotyping and Genotyping Inherited Platelet Disorders: Experience From a Spanish National Project

Panel Discussion: Sharing Genotype and Phenotype Data in Inherited Disorders

See the ISTH calendar for the full program.