Projects & Grants
| Whole exom sequencing of patients with HELLP syndrome, identification of new potential biomarkers | |
|---|---|
| Project Id | SGS03/LF/2026 |
| Main solver | MUDr. Ivo Demel |
| Period | 1/2026 - 12/2026 |
| Provider | Specifický VŠ výzkum |
| State | solved |
| Anotation | HELLP (Hemolysis, Elevated Liver enzymes and Low Platelets) syndrome is a rare disorder affecting 0.5?1% of all pregnancies. It belongs to the group of pregnancy-associated thrombotic microangiopathies and is therefore characterized by hemolysis, thrombocytopenia, and endothelial injury with thrombosis of small vessels, leading to subsequent organ ischemia. HELLP syndrome is considered the most severe form of preeclampsia, which affects around 5% of pregnancies. Both entities are associated with high maternal and fetal morbidity. While the pathophysiology of preeclampsia is well explored, it remains unclear why some women develop HELLP syndrome. Current knowledge identifies HELLP syndrome as a multifactorial disease with a presumed genetic predisposition. Due to its phenotypic similarities to complement-mediated hemolytic uremic syndrome?where a clear association with pathogenic variants in genes regulating the alternative complement pathway has been demonstrated?these genetic mutations have also been investigated in patients with HELLP syndrome, but without success: only 11 of 73 patients (15%) reported in the literature had a confirmed complement gene mutation. The aim of our study is a retrospective analysis of whole-exome sequencing of 40 patients with HELLP syndrome diagnosed at the Department of Obstetrics and Gynecology of the University Hospital Ostrava (FNO) since 2017, whose genetic material has been archived. Specifically, we will focus on mutations in 487 genes previously described in the literature as being associated with normal placental function and blood pressure regulation. The presence of pathogenic variants with a minor allele frequency (MAF) <1% will be compared with a control group of patients with physiological pregnancies from publicly available databases. To our knowledge, this will represent the second-largest cohort of patients with HELLP syndrome to undergo large-scale genomic analysis. |
| Total Costs | 238 260 CZK |
