Principal Investigator: Ms Veronika Niederlova
Institute of Molecular Genetics of the ASCR, Czech RepublicTags: 40103, bardet-biedl syndrome, blood, ciliopathy, haematology, immune
We have created a database of blood tests results of 200 patients with BBS from the UK. As we found out that some parameters are often out of normal ranges in BBS patients we would like to compare these data with data of (1) age, gender and BMI-matched controls from the UK Biobank and (2) age and gender-matched non-obese controls from the UK Biobank. We would like to analyze differences in red blood cell count, white blood cell count, white blood cell populations (neutrophils, leukocytes, monocytes, eosinophils and basophils), platelet count, haematocrit, red cell distribution width, mean platelet volume, mean corpuscular hemoglobin and C-reactive protein. We don’t need any samples. The statistical analysis of all variables will be done in two weeks. Our data will show if there are statistically significant differences in basic blood tests parameters related to immune system in patients with Bardet-Biedl syndrome compared to control group. As the interconnection between BBS and immunity has not been addressed yet, these findings will be essential for any future research. In addition, our analysis which will include BMI-matched as well as non-obese controls will help future researchers understand if the alterations in immune and haematopoietic system of BBS patients are related to obesity. Due to protection of patients’ identity, we are, however, not allowed to share our original BBS patients data with other researchers.