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EIMAN AL-YAMANI P.O. BOX 3221 Makkah, KSA Tel. Home: 025365972 Te, work: 026240000 Ext. 22738 Mobile: +966-555098946 E-Mail: [email protected] EDUCATION Institution and Location Degree. Field of Study Ambassador University Corporation New York, NY, USA MSc. (online) Umm Al-Qura University BSc. 2007 1995 Genetic Engineering Biology (GPA 3.462) EMPLOYMENT Molecular Technologist II Molecular Biology Unit, National Guard Hospital, Jeddah, KSA 2005- Present Research Assistant, Department of Genetics, KFSHRC, Riyadh, KSA 2000-2005 Research Fellow, Molecular Neurogenetics Unit Massachusetts General Hospital, Boston, MA. USA 1998- 2000 Research Technician, Molecular Genetics and Diagnosis Laboratory King Faisal Specialist Hospital & Research Center (KFSHRC), Riyadh, KSA 1996-1998 AWARDS 2 year scholarship from King Faisal Specialist Hospital & Research Center to train in Molecular Neurogenetics at Massachusetts General Hospital, Boston, MA. USA RESEARCH & CLINICAL WORK EXPERIENCE National Guard Health Affair & King Khalid Guard Hospital – Jeddah A- Establishing A New molecular pathology Unit Oct – Dec 2006 B- Molecular Biology Unit Sept 2005 – Aug 2006 1-Routine diagnostic essays for Infectious diseases including Qualitative and or Quantitative tests for CMV, HBV, HCV, HIV, and HSV. 2- Family screen for Herpes including CMV, EBV, HSV, VZV, and HHV6. 3- Mycobacteria, species ID, molecular & Mycobacterium Tuberculosis- ID 4- Factor V Leiden King Faisal Specialist Hospital & Research Centre - Riyadh (1996-1998) Routine diagnostic assays : 1- Cystic Fibrosis: A descriptive study was undertaken to characterize the cystic fibrosis transmembrane regulator gene mutations (CFTR) in the Saudi Arabian cystic fibrosis (CF) population in relation to clinical presentation and demographic and ethnic origin. 70 patients from 46 families were diagnosed as having CF, based on a typical clinical picture and sweat chloride levels > 60 mmol/l and were screened for CFTR mutations. Twelve mutations were identified in 34 families. The clinical picture did not differ significantly between patients of different ethnic origins with the same CFTR mutation. 2- Factor V Leiden: A total of 148 patients were studied and none exhibited Factor V mutations and only 30 patients had documented thromboembolic complications. 3- Mutations Analysis of MCAD by Heterdublex Analysis (MDE gel). 4-Mutation screening for Multi-sulphatase deficiency: We identified 4- Novel Polymorphism by Sequencing using DNA samples from 72 Saudi patients. 4- Mutation analysis of SUOX gene in Saudi Patients with Sulfite Oxidase Deficiency: DNA samples from 20 patients were screened for mutations in the SUOX gene. Amplification and sequencing of the exons 1, 2 and 3 of the SUOX gene using PCR and cycle sequencing. Novel mutations were found in 3 of the patients. Identification of these new mutations should facilitate pre-implanation genetic diagnosis and selection of unaffected embryos for pregnancy counseling in families with these mutations. MASSECHUSETTS GENERAL HOSPITAL (1998- 2000) 1- Mapping of Biotin-responsive Basal Ganglia Disease in Saudi Patients Linkage analysis was carried out on six Saudi Arabian Families with Biotin-responsive Basal Ganglia Disease (BBGD). Using 302 genetic markers, BBGD was mapped to chromosome 2q36.3 and the disease has since been attributed to mutations in the SLC19A3 gene. 2- Identification of Novel mutations in Parkinson's disease Gene Novel mutation was identified by screening 99 DNA samples of Venezuelan families for the novel mutation by PCR and cycle sequencing. 3- Methcrolonyel-CoA: I mapped this disorder for two Saudi patients to chromosome 3 by using Human chromosome mapping panels. CONFERENCES & MEETINGS ATTENDED The 3RD International Breast Cancer Conference At Intercontinental Hotel – Jeddah 2011 7th Applied Medical Sciences Students Meeting Held at king Abdulaziz University Conference Center, KAU, Jeddah 2011 Human Genetics Lecture At King Abdulaziz Medical City, Jeddah 2010 VIII Saudi Scientific Hematology Society Congress At The Crowne Plaza Hotel, Jeddah, KSA 2009 The 7th International Scientific conference of HH Princess Al-Jawhara center for Genetic Diagnostics and Research at Arabian Gulf University, Bahrain 2009 Update in Oncologic & Molecular Pathology, Jeddah, KSA 2006 Quality @ Health Symposium 2006 2nd Molecular Diagnostic Group Meeting, Jeddah, KSA 2005 Fundamentals of Conducting Research Symposium, KFSHRC, Riyadh 2004 Recent Advances in Reproductive Medicine , KFSHRC, Riyadh 2004 Neonatal Screening in the Kingdom of Saudi Arabia , KFSHRC, Riyadh 2004 Recent Advances in the Technology of IVF & Reproductive Medicine, Dallah Hospital, Riyadh 2004 Cancer 2002 KFSHRC, Riyadh 2002 COURSES & WORKSHOPS ATTENDED Certificate of Human Participants Protection Education for Research Teams Online course, sponsored by The National Institutes of Health 2007 Antimicrobial Review Course & Workshop, KFSHRC, Riyadh 2003 Bioinformatics Workshop Empowered By DNA Star, KFSHRC, Riyadh 2003 Neuro-Linguistics Program, KFSHRC, Riyadh 2003 Recent Advances in Clinical Genetics & Mitochondrial Disorders, KFSHRC Riyadh 2003 Professional Writing Belt School, Oxford, UK . Certificate of Human Participants Protection Education for Research Teams Online course, sponsored by The National Institutes of Health 2001 Human Genetics Course, Harvard Medical School, Boston, MA, USA 1999 Basic Radiation Protection for Research & Hospital Personnel Safety Course Massachusetts General Hospital, Boston, MA.USA USA 1998 Human Genetics in Clinical Investigation, Clinical Research Program Massachusetts General Hospital, Boston, MA. USA 1998 2nd Symposium on Computer & Information Technology in the Health Field, KFSHRC, Riyadh 1998 Statistics Analysis, KFSHRC, Riyadh 1997 3rd Saudi School on Human molecular Genetics, College of Medicine, King Saud University, Riyadh 1997 Scholarly Writing Workshop, KFSHRC, Riyadh 1997 2003 PUBLICATIONS IN PEER REVIEWED JOURNALS Al-Yamani E, Zeng W-Q, J.S. Acierno , Jr., Susan Slaugenhaupt, Tammy Gillis, Marcy E. MacDonald, Pinar T. Ozand, Ozand, James.F. Gusella. Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and is Due to Mutation in SLC19A31. Am J Hum Genet 77:16, 2005 Seidahmed MZ, Alyamani EA, M.S. Rashed, A.A. Saadallah, OB Abdelbasit, M.M. Shaheed, A.Rasheed, F.A.Sabry. Total Truncation of the Molybdopterin/Dimerization Domains of SUOX Protein in an Arab Family with Isolated Sulfite Oxidase Deficiency. Am J Med Genet 136(2):205-9, 2005. Zeng W, Al-Yamani E, J.S. Acierno, P. Ozand, JF Gusella. Amputations in SLC19A3 encoding a novel transporter cause biotin-responsive basal ganglia disease Am J Hum Genet 2001; 69: 195. A Novel Mutations in SUOX Sudani Patients (submitted). PRESENTATIONS & ABSTRACTS Mapping and Linkage analysis of BBGD gene at University of Oxford, The Wellcome Trust Center for Human Genetics, Oxford, UK. 1999 First GCC Genetics Conference Attended participated and presented a paper on The Molecular Basis of Hyperekplexia in Saudi Arabia Families, Bahrain, 2003. OTHER SKILLS Fluent in Arabic, verbal and written Fluent in English, verbal and written. Proficient with Microsoft Word, Excel PowerPoint, Adobe Photoshop Experienced with Cyrillic program for linkage analysis & genotyping Skilled with Bioedit & DNA STAR Sequencing Programmes Competent with BLAST searches EXTRA-CURRICULAR ACTIVITIES Active member of Um Al-Qura Charity Organization REFERENCES Dr James Gusella, Director Molecular Neurogenetics unit Massachusetts General Hospital Building 149 13th street Charlestown, MA 02129-2000 Tel: 617-726 5724 Fax 617-726 5735 E-mail: [email protected] Dr Mohamed Sabry, Group Leader Department of Medicine Arabian Gulf University Bahrain Tel: 973-36361876 E-mail: [email protected]