The evaluation of efficacy of nationwide mass newborn screening for rare diseases in the Czech Republic and finding ways to improve its
Mentor (Advisor):
Assoc. Prof. MUDr. Felix Votava, Ph.D.
Study programme:
Preventive medicine
Department:
Department of Pediatrics, 3 FM CU
Contact information:
; 267162 530
Project Narrative:
The objective is to evaluate both clinical and especially nationalwide efficacy of Czech neonatal screening systém for congenital adrenal hyperplasia, cystic fibrosis and congenital hypothyroidism and seek ways to improve its statistic performance metrics –ie sensitivity, specificity, positive predictive value and false positive rate with the aim to optimize the balance between detection capabiloity of this tool for early detection of rare disease and burden of healthy part of general newborn population
Requirements for student applicants:
Finished medical master ́s degree, interest in scientic work
