PMO-034 Compliance with the must screening tool for medical in patients: Abstract PMO-034 Table 1

PW03-034 – How to classify autoinflammatory diseases?

Results We propose a clinically-oriented definition: “autoinflammatory diseases are diseases with clinical signs of inflammation, associated with elevated acute phase reactants and due to a dysfunction in the innate immune system, genetically determined or triggered by an endogenous factor”. It is hard to find natural properties able to underlie a useful classification of autoinflammatory disea...

Electron PMO, and Structure-Resonance Theory Calculations for Proton Affinities

Applications of the PMO platform to genetic diseases

Genetic diseases are caused by a variety of mutations some of which lead to aberrant splicing of premRNA and prevent proper mRNA translation of essential proteins or lead to translation of undesirable proteins. Such mRNA defects can be frequently repaired by appropriate targeting of oligonucleotides to modify splicing pathways and restore correct translation of desirable proteins. Hutchinson-Gi...

P01-034 – Cancer in FMF: a population based study Israel

Methods Demographic data of FMF patients, followed in the national FMF center at Sheba medical center (n=8352) and Hadassah Medical Center (n=1083) were obtained from FMF patient hospital registries. The prevalence of cancer in the general population, and in the study registries was attained from the cancer registry of Israel and analyzed according to age, origin, and cancer type. The Standardi...

PW02-034 - NLRP3 mosaicism detection in CAPS using NGS

Methods Six well-defined mutation-negative CAPS patients were included. In addition two CAPS patients that were identified before as mosaics, by a subcloning and Sanger sequencing method, were included for validation purposes. In short, barcoded whole genome fragment libraries were generated for each patient, enriched for the coding regions of 300 inflammation related genes using a custom Agile...