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Documents Diagnostic testing Used to confirm or rule out a known suspected (mutation) genetic disorder in a...

Slide 1Diagnostic testing Used to confirm or rule out a known suspected (mutation) genetic disorder in a symptomatic person. Predictive testing Tells an asymptomatic individual…

Documents Long QT and Jervell & Lange-Nielsen. Long QT syndrome (LQT) Disease of heart electrophysiology.

Slide 1Long QT and Jervell & Lange-Nielsen Slide 2 Long QT syndrome (LQT) Disease of heart electrophysiology Slide 3 Long QT syndrome (LQT) Caused by mutations in ion…

Documents When does Huntington’s Disease Begin? Richard Dubinsky, MD, MPH University of Kansas 11/16/12.

Slide 1When does Huntington’s Disease Begin? Richard Dubinsky, MD, MPH University of Kansas 11/16/12 Slide 2 Disclosures  Current  NIH/NCAM and FDA OPD  2CARE…

Documents VUS: The clinician’s view Mary Porteous On behalf of Scottish Clinical Geneticists.

Slide 1VUS: The clinician’s view Mary Porteous On behalf of Scottish Clinical Geneticists Slide 2 Data gathering  Contacted clinical geneticists and genetic counsellors…

Documents Genetics 101 April 23, 1953

1.Genetics 1012. April 23, 1953 Watson & Crick’s discovery of the DNA helix 3. Completion of the Human Genome Project April 14, 2003 GGCACGAGGGTAAATATGGCATAAGTTAATAACACTTTTCCCCAAAATGGTGCTTTGGATTTGAAAAGGGTCTGATGGGGAGAAGGAGAACGTATCATCCTAGCTTCCTCTCTTAATAAACCTAGAAAAACGGGTAGTAAACTGTGGATAGTCAGGAAAACACCCAGCAAGGGACACAGC…

Documents PGx Testing

Hashim Khan Saturday, 2012 • 25-60% of patients – benefit from drugs • 2 million ADR’s & 100,000 death US alone • Drug toxicity- 4th to 6th, causing • leading…

Documents Recent Advances in Human Genetics

Recent Advances in Human Genetics TheâNewâ vs. theâOld Geneticsâ What is so new? Why is this different? Background What is a gene? A gene is a physical structure made…

Documents Nasa Rcm Guide

RCM GUIDE RELIABILITY-CENTERED MAINTENANCE GUIDE For Facilities and Collateral Equipment FINAL September 2008 DRAFT National Aeronautics and Space Administration NASA RELIABILITY-CENTERED…

Documents Personal Genomics Carrie Iwema, PhD, MLS, AHIP 19 th March 2014 Molecular Biology Information...

Slide 1 Personal Genomics Carrie Iwema, PhD, MLS, AHIP 19 th March 2014 Molecular Biology Information Service Slide 2 1997 Slide 3 Outline 1.Context 2.Personal Genomics 3.Personalized…

Documents Risk Prediction of Complex Disease David Evans. Genetic Testing and Personalized Medicine Is this...

Slide 1Risk Prediction of Complex Disease David Evans Slide 2 Genetic Testing and Personalized Medicine Is this possible also in complex diseases? Predictive testing in the…