遗传学英文课件：MQ introduction 2014

1、 PhD in molecular biology, University of Pittsburgh,Education,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

2、: 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,Fellowshi

3、p Training (University of Washington),ABMG certified: Clinical Molecular Genetics, Mentors: UWMC: Dr. John Tait Dr. Karen Stevens Dr. Peter Byers Seattle Childrens: Dr. Ron Scott,Dr. Peter Byers, Expertise at: CF, HD, Myotonic Dystrophy, SCA1, Machado-Joseph/SCA3, a-thalassemia, thrombosis/APC Resis

4、tance, 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

5、 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 f

6、or genotype-phenotype co- relationship studies, identification of new LQT genes and modifier genes.,Center for Genetics & Genomics,Genomic Medicine at ZJU/BGI Healthcare, Education & Research,First Genetic & Genomic Clinic in China,140 patients came to the walk-in clinic by 8:10 am （ Xinhua News Pho

7、tographed by Hu Guanhua ）,Service of Genetic & Genomic Clinic,HGP director Francis Collins President, Am Soc Hu Genet Peter Byers President, Can Soc Hu Genet Judith Hall etc,BIO-BANK AND GENETIC DATABASE OF MAJOR DISEASES IN CHINA,Ming Qi, PhD, FACMG, Dip ABMG Center for Genetic & Genomic Medicine James Watson Institute of Genomic Sciences & Medical School of Zhejiang