title: Personalized biochemistry and biophysics.
abstract: Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine.
authors: †Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, United States.|‡Center for Structural Biology, Vanderbilt University, Nashville, Tennessee 37232, United States.
authors: Brett M
authors: BM
authors: Kroncke
authors: §Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States.
authors: Carlos G
authors: CG
authors: Vanoye
authors: ‡Center for Structural Biology, Vanderbilt University, Nashville, Tennessee 37232, United States.|∥Departments of Chemistry, Pharmacology, and Bioinformatics, Vanderbilt University, Nashville, Tennessee 37232, United States.
authors: Jens
authors: J
authors: Meiler
authors: §Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States.
authors: Alfred L
authors: AL
authors: George
authors: †Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, United States.|‡Center for Structural Biology, Vanderbilt University, Nashville, Tennessee 37232, United States.
authors: Charles R
authors: CR
authors: Sanders
mesh_terms: D001671:Biochemistry; D001703:Biophysics; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D009690:Nucleic Acid Conformation; D057285:Precision Medicine / Q000379:methods* / Q000639:trends; D011487:Protein Conformation; D012313:RNA
chemical_list: D012313:RNA