遗传学英文课件：MQ introduction 2014.pptVIP

? PhD in molecular biology, University of Pittsburgh Education ? MS in human/medical genetics, Fudan University, Shanghai ? CUSBEA Student Creating animal model of human disease ? Ca: postnatal lethality, growth retardation, sperm dysfunction ? Cb: learning and memory defect ? RIa: embryonic lethal ? RIb: learning and memory defect, diminished inflammation and nociceptive pain ? RIIa: appear normal and health ? RIIb: skinny, learning and memory defect, defect motor behavior, less sensitive to ethanol ? M1 receptor: seizure, epilepsy (6 papers in PNAS, Cell, J Neurol, etc) Dr. S. McKnight KO of Mouse PKA Genes Postdoctoral Training 4 papers co-authored with Dr. Eric Kandel Fellowship Training (University of Washington) ABMG certified: Clinical Molecular Genetics ? Mentors: UWMC: Dr. John Tait Dr. Karen Stevens Dr. Peter Byers Seattle Children’s: Dr. Ron Scott Dr. Peter Byers ? Expertise at: CF, HD, Myotonic Dystrophy, SCA1, Machado-Joseph/SCA3, a-thalassemia, thrombosis/APC Resistance, Fragile X, DMD, PWS, AS, SMA, Testicular feminization, MCAD, OI, OHS (EDS-IX), Alagille syndrome International LQTS Registry and LQTS Molecular Genetics Laboratory at Rochester International LQTS Registry - Established by Dr. Moss in 1979. - To date, 1206 proband-identified families have been enrolled. - Almost all important findings on LQTS directly came from or collaborated with this registry. LQTS Molecular Genetics Laboratory - Established in the Fall of 1999. - 3000 samples are collected and mutational analysis is performed. - Many novel mutations have been identified. - Platform for genotype-phenotype co- relationship studies, identification of new