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Precision Medicine and Arrhythmia - Coggle Diagram
Precision Medicine and Arrhythmia
Polygenic-driven Arrhythmia
Involves a combination of multiple genes - no easy target
Cannot develop effectively develop precision medicine therapies
genetic tests/estimation of genetic risks
prenatal
blood testing - noninvasive prenatal testing (NIPT)
adult
Chromosomal microarray
family history
polygenic risk scores (PRC)
whole genome sequencing (WGS)
genetic markers
Genetic changes associated with CHD include aneuploidy, copy number variations, and point mutations
most common genetic conditions
long QT syndrome (LQTS)
catecholaminergic polymorphic ventricular tachycardia (VT) (CPVT).
brugada syndrome
Stem cell technologies
Adult stem cells are most easily obtained from arrhythmia patients
Adult stem cells can be reprogrammed into Induced Pluripotent Stem Cells to assume embryonic-stem-cell-like characteristics
iPSCs can differentiate into any type of body cell apart from placental cells so enables best personalised treatment for patients
embryonic stem cells
Embryonic stem cells are hard to obtain from blastocytes
Embryonic stem cells are needed to study arrhythmia as they are able to differentiate into atrial-like cells/cardiomyocytes
Prolonged/shortened action potentials, automaticity (EAD/DAD), mutated cardiac proteins
Patient-derived cells can be used to model disease and evaluate drugs. Can also be directly used as a cell therapy
stem cell for personalised treatment
patient-derived cells allows genetic analysis specific to the patient's disease for faster screening of possible treatments / stem cells derived from patient to "correct" the mutation through cell therapy
monogenic-driven arrhythmia
caused by single genetic defects - easier target for drugs
possibly able to effectively develop precision medicine therapies such as stem cell therapies