Active BRIDGE Studies

  • Bleeding and Platelet Diseases(acronym BPD, project identified B20) - The immediate purpose of this study is to identify the genetic basis of hitherto unresolved bleeding and platelet disorders by exome-sequencing.
  • Pulmonary Arterial Hypertension (acronym PAH, project identifier B21) - This project will investigate the underlying genetic variation of idiopathic and heritable pulmonary arterial hypertension.
  • Primary Immune Disorders (acronym PID, project identifier B22) - This study will focus on genetic causes of severe immune disorders, also known as Primary ImmunoDeficiencies (PID), with the largest category being CVID, but it may also include the "extreme phenotype" of premature and severe autoimmunity.
  • Specialist Pathology: Evaluating Exomes in Diagnostics (acronym SPEED, project identifier B24)
  • Steroid Resistant Nephrotic Syndrome (acronym SRNS, project identifier tba) - This study will focus on genetic causes Steroid Resistant Nephrotic Syndrome.
  • Ehlers-Danlos syndromes (acronym EDS, project identifier tba) - This study will investigate the genetic basis of rare inherited connective tissue conditions, mainly the Ehlers-Danlos syndromes and those with overlapping phenotypes, which includes familial thoracic aortic aneurysm/dissection