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D own syndrome and personalized medicine: Changing paradigms from genotype to phenotype to treatment
Author(s) -
McCabe Linda L.,
McCabe Edward R. B.
Publication year - 2013
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12000
Subject(s) - personalized medicine , disease , medicine , clinical trial , precision medicine , epigenomics , intensive care medicine , polygenic risk score , bioinformatics , genotype , biology , genetics , pathology , gene expression , gene , single nucleotide polymorphism , dna methylation
Personalized M edicine represents a paradigm shift in the conceptual framework of research and clinical care. This shift argues that D own syndrome is a treatable condition, and therefore we must invest in research to improve outcomes. Individuals with D own syndrome have varying levels of increased risk for a number of co‐morbidities, including infantile spasms and early onset A lzheimer's disease. We will review research in these associated conditions to show how investigators are attempting to identify biomarkers, including genomic, epigenomic, proteomic and metabolomic “signatures” that will predict who may be at risk to develop a specific co‐morbidity prior to onset and will provide novel targets for therapeutic development. This P ersonalized M edicine approach will permit predictive and preventive approaches for individuals at increased risk for co‐morbidities. The support for clinical trials among individuals with D own syndrome is beginning to overcome the “culture of intractability” that has surrounded this disorder.