Personalised medicine: a reality for sickle cell disease? – SCiF 2103

Dr Martin Steinberg, oston University School of Medicine, USA

Paramount among caregiver’s goals is the ability to individualize treatment providing the most good with the least harm. Individualized,” “personalized,” or “precision” medicine uses information from a person’s genes, proteins, and environment to prevent, detect and treat disease. Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new “druggable” pathophysiologic targets. Advances in genomics,    bioinformatics and cell biology are being applied to the study of sickle cell disease.  Leveraging genome-wide association studies to develop genetic risk scores and signatures of disease severity, whole genome sequencing and using patient-specific induced pluripotent stem cells for drug trials and drug discovery are now realities. These technologies have the promise of bringing to clinical use pharmacogenomics to predict responses to different drugs, including fetal hemoglobin inducers, estimating drug response in vitro using patient-derived stem cells, and enhanced early diagnosis that predicts disease complications like stroke and vasculopathy.

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