Investigating disease pathogenesis and treatment response using gene expression data in blood cells of patients with Immune thrombocytopenia

Summary

We are studying the genetic reasons behind a disease called immune thrombocytopenia (ITP). People   with ITP have with low numbers of a specific blood cell called platelets. These cells help the blood to   clot and so patients suffer with bleeding and bruising.  ITP is caused by a problem with their immune system. They attack and kill their own platelets. They   also prevent new platelets from being made. This can occur randomly or sometimes after an infection   such as covid-19. We don't understand what causes this to occur in some people but not others.   Probable or possible genetic causes were found in almost 50% of cases in a study of 80 patients in   previous NIHR genetic studies. This shows that gene sequencing is helpful but also highlights that   new approaches are needed. We will measure gene expression in different blood cells using the Rare   Disease RNA Phenotyping Project.  We want to study the immune system of people with the disease, and compare it to those who do   not have the disease. This will help us understand why some patients suffer with ITP while others   don’t. There are different treatment options, but they do not work for everyone. It is difficult for   patients to try multiple medicines before finding one which works. Our study hopes to identify which   treatment will work for individual patients. This means people can recover faster and have a better quality of life.