Hematologic Diseases study with RNA-Seq data on dbGaP (14 participants)

phs003508 — Healthy and FPD Bone Marrow Single Cell Sequencing

<p>Familial platelet disorder (FPD) is caused by germline <a href="https://www.ncbi.nlm.nih.gov/gene/861">RUNX1</a> mutations. Families inheriting the disease suffer from platelet dysfunction and consequently various bleeding disorders. The life long risk of developing leukemia increases in FPD individuals by 40% and the onset is at 29 years old. </p><p>In order to understand the mechanism behind disease transformation, we performed single cell sequencing on mononuclear bone marrow cells from 10 FPD and 4 healthy control individuals. The participants were between 6 and 72 years of age at time of bone marrow collection and were not diagnosed with any leukemia. Following the established Ficoll paque assay, the mononuclear cells were used to perform 10x chromium single cell, the data was analyzed through Seruat packages, and further analysis was done to access differences between FPD and healthy. The most distinguished feature between FPD and healthy was the upregulation of inflammation and inflammatory related disease. These findings were further validated and used to design an inhibitory assay for reversal of FPD phenotype. </p>