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…
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…
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…
Slide 1VUS: The clinician’s view Mary Porteous On behalf of Scottish Clinical Geneticists Slide 2 Data gathering Contacted clinical geneticists and genetic counsellors…
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…
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…
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…
RCM GUIDE RELIABILITY-CENTERED MAINTENANCE GUIDE For Facilities and Collateral Equipment FINAL September 2008 DRAFT National Aeronautics and Space Administration NASA RELIABILITY-CENTERED…
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…