The Imageable Genome.

Understanding human disease on a molecular level, and translating this understanding into targeted diagnostics and therapies are central tenets of molecular medicine1. Realizing this doctrine requires an efficient adaptation of molecular discoveries into the clinic. We present an approach to facilitate this process by describing the Imageable Genome, the part of the human genome whose expression can be assessed via molecular imaging. Using a deep learning-based hybrid human-AI pipeline, we bridge individual genes and their relevance in human diseases with specific molecular imaging methods. Cross-referencing the Imageable Genome with RNA-seq data from over 60,000 individuals reveals diagnostic, prognostic and predictive imageable genes for a wide variety of major human diseases. Having both the critical size and focus to be altered in its expression during the development and progression of any human disease, the Imageable Genome will generate new imaging tools that improve the understanding, diagnosis and management of human diseases.

Ischaemic related transitory left ventricular dysfunction in 201Tl gated SPECT.

AIM: To report our data concerning the changes in post-stress and at-rest left ventricular ejection fraction and ventricular volumes in patients with thallium gated SPECT. METHODS: Post-stress and at-rest thallium gated SPECT was performed in 629 consecutive patients; left ventricular ejection fraction (LVEF), left ventricular volumes and quantitative perfusion data were obtained. Transitory left ventricular dysfunction was diagnosed when post-stress LVEF did not increase at least 5% from LVEF at-rest. RESULTS: In all patients post-stress LVEF was 64%+/-17 while at-rest LVEF was 66%+/-15 (P=0.6). Post-stress end diastolic volume (EDV) was 142 ml+/-7, at-rest EDV was 141 ml+/-92 (P=0.57), post-stress end systolic volume (ESV) was 54 ml+/-51 and at-rest ESV was 56 ml+/-59 (P=0.38). Data from the perfusion study were used to divide patients into three groups: normal patients (group I), patients with total or partially reversible defects (group II) and patients with fixed defects (group III). In group I and group III patients LVEF at-rest was lower than post-exercise (LVEF 75%+/-11 vs 81%+/-10 (P<0.001) and 57%+/-16 vs 60%+/-18 (P=0.025)), respectively. Patients in group II had a higher at-rest LVEF than post-exercise (LVEF 66%+/-14 vs 64%+/-16 (P=0.003)). While the left ventriuclar volumes in group I and III patients decreased with exercise, group II patients had increased post-stress ESV. CONCLUSIONS: Post-stress and at-rest LVEF are similar when all patients are considered but significant differences appear when patients are divided according to the results of the perfusion study. Normal and fixed defect patients have increased post-exercise LVEF. Patients with reversible defects have decreased LVEF, which is largely due to an increased ESV. Transitory left ventricular dysfunction is related to the presence of reversibility and may benefit from revascularization.