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BSH19‐OR‐031 : Whole genome sequencing of patients with haematological, immune and haemostatic disorders reveals hundreds of new variants in the coding and non‐coding part of the genome causal of rare diseases

Researchers

Presenter

  • S. Sivapalaratnam

Principal Investigators

  • C. Lentaigne

  • E. Turro

Medical Centers

  • Immunobiology, Blizard Institute

  • Haematology, Imperial College NHS Healthcare Trust, London

  • University of Cambridge, Cambridge, United Kingdom

Locations

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • Central Nervous System (CNS)

  • Genetic Disorder

  • Blood/haematological Diseases

Disease

  • Macrothrombocytopenia

  • Neutropenia

  • Autism

  • Lipopolysaccharide (LPS)‐responsive and beige‐like anchor protein deficiency

Biomarkers

  • MPL proto-oncogene, thrombopoietin receptor

  • ATP-binding cassette sub-family C member 4

  • Stromal interaction molecule 1

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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