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TOPICS AND SCHEDULES
DAY 1, Monday, 17 March 2003 / 14 Muharram 1424
07:30 REGISTRATION
08:00 - 08:10 Reading of the Holy Quran
08:10 - 08:25 Opening Remarks
Dr. Moeen Al Sayed, organizing Committee Chairman
08:25 - 08:30 Dr. Abdulrahman Alrajhi, Associate Executive Director, CME
Academic and Training Affairs
SESSION I – CLINICAL GENETICS / MITOCHONDRIAL DISORDERS I
Chairman: Dr. Suad Al-Yamani
Co-chairman: Dr. Marios Kambouris
08:30 - 09:10 Mitochondrial Disorders – An introduction to Mitochondrial Genetics
Dr. Massimo Zeviani
09:10 - 09:45 Gene Mapping Strategies in the Saudi Population
Dr. Brian Meyer
09:45 - 10:10 Local Experience in Mitochondrial Disorders in Saudi Patients: Clinical Findings
Dr. Saeed Bohlega
10:10 - 10:25 Discussion
10:25 - 10:40 Coffee Break
SESSION II – CLINICAL GENETICS / MITOCHONDRIAL DISORDERS II
Chairman: Dr. Mohammed Jumaa
Co-chairman: Dr. Zuhair Al Hassnan
10:40 - 11:10 Distal Myopathy with Rimmed Vacuoles linked to Chromosome 12
Dr. Edward Cupler
11:10 - 11:40 Leigh Syndrome, A Mitochondrial Disorder with Multiple Etiologies
Dr. Massimo Zeviani
11:40 - 11:55 Discussion
11:55 - 13:15 Prayer and Lunch Break
SESSION III – CLINICAL GENETICS / MITOCHONDRIAL DISORDERS III
Chairman: Dr. Nadia Sakati
Co-chairman: Dr. Saad Al-Shahwan
13:15 - 13:50 Nuclear Gene Defects in Oxphos Disease
Dr. Massimo Zeviani
13:50 - 14:10 Pre-natal Diagnosis of Chromosome Abnormalities in Saudi Arabia
Dr. M. Anwar Iqbal
14:10 - 14:30 Fragile-X A Clinical Study
Dr. Muneera Al-Hussein
14:30 - 14:50 Syndrome of Microcephaly & Intracranial Calcification
Dr. Wafaa Al Eyaid
14:50 - 15:15 Discussion
15:15 - 15:50 Prayer and Coffee Break
SESSION IV – SOCIOECONOMIC / ETHICAL ASPECTS
Chairman: Dr. Amin Kashmeery
Co-chairman: Dr. Ameen Softah
15:50 - 16:10 Historical and Cultural Aspects of Consanguinity
Dr. Arjumand Warsy
16:10 - 16:30 Ethical Considerations in the Prevention and Management of Genetics Disorders with Special Emphasis on Religious Considerations
Dr. Mohammed Al Bar
16:30 - 16:50 Health Insurance and Genetic Diseases
Dr. Abdelilah Al-Saati
16:50 - 17:10 Ethical Dimensions of Germ-line Cell Gene Manipulations: An Islamic Perspective
Dr. Amin Kashmeery
17:10 - 17:30 Discussion
END OF DAY ONE
DAY 2, Tuesday, 18 March 2003 / 15 Muharram 1424
SESSION V - INBORN ERRORS OF METABOLISM I
Chairman: Dr. Zuhair Rahbeeni
Co-chairman: Dr. Mohamed Rashed
08:15 - 08:45 Inborn Errors Presenting Around the Time of Birth
Prof. James Leonard
08:45 - 09:15 Disorders of Neurotransmitter Metabolism
Prof. Keith Hyland
09:15 - 09:45 Mass Spectrometry in the Diagnosis of Inherited Metabolic and Endocrine Diseases
Dr. Mohamed Rashed
09:45 - 10:00 Discussion
10:00 - 10:15 Coffee Break
SESSION VI – INBORN ERRORS OF METABOLISM II
Chairman: Dr. Pinar Ozand
Co-chairman: Dr. Hisham Al-Dalaan
10:15 - 10:45 CSF Analysis and the Diagnosis of Genetic Disease
Prof. Keith Hyland
10:45 - 11:15 Disorders of Fatty Acid Oxidation
Prof. James Leonard
11:15 - 11:45 Neuroimaging Diagnosis in Neurometabolic and Neurodegenerative Disorders
Dr. Zoltan Patay
11:45 - 12:00 A Clinical and Genetic Study in Two Mitochondrial Patients in a Consanguineous Family in North East of Iran
Dr. Kazem Ghodsi
12:05 - 12:15 Discussion
12:15 - 13:15 Prayer and Lunch Break
SESSION VII – INBORN ERRORS OF METABOLISM III
Chairman: Dr. James Leonard
Co-chairman: Dr. Ali Al-Odaib
13:15 - 13:55 Organic Acidemias
Prof. James Leonard
13:55 - 14:20 Gaucher Disease in Saudi Arabia
Dr. Moeen Aldeen Al-Sayed
14:20 - 14:40 Association of Congenital Malformation with Consanguinity: A Study in GhaemHospital,Mashad, Iran
Dr. Kazem Ghodsi
14:40 - 15:00 Metabolic Diseases and the Eye
Dr. Selwa Al Hazza
15:00-15:15 Discussion
15:15 - 15:45 Prayer & Coffee Break
SESSION VIII - MOLECULAR GENETICS
Chairman: Dr. Brian Meyer
Co-chairman: Dr. Muneera Al-Hussein
15:45 - 16:20 Gene Mutations, Gene Identification and Gene Detection in the Saudi Population
Dr. Marios Kambouris
16:20 - 16:45 The Role of FISH Technique in the Diagnosis of Chromosomal Syndromes
Dr. M. Anwar Iqbal
16:45 - 17:05 Pre-implantation Diagnosis: KFSH&RC Experience
Dr. Ali Hillani
17:05 - 17:30 Discussion
END OF DAY TWO
GENETIC WORKSHOP
DAY 3, Wednesday, 19 March 2003 / 16 Muharram 1424
07:30 Registration
08:00 - 08:10 Welcome Remarks
Dr. Edward Cupler
08:10 - 08:55 From Gene to Protein
Dr. Fadia El Bitar
Topics: DNA Synthesis, RNA Synthesis, Protein Synthesis, Nucleic Acid Biochemistry, Gene Structure, Regulatory Mechanisms and Function.
08:55 - 09:40 The Polymerase Chain Reaction
Dr. Syed Hussein
Topics: Basic PCR Methodology, Amplification Cycles, Design of PCR Primers, Quantitative PCR, Nested PCR, In Situ PCR, Diagnostic Applications of PCR
(Pathogens in Tissues, Gene Mutation, Genotyping)
09:40 - 09:55 Coffee Break
09:55 - 10:40 Isolation and Characterization of Genetic Material
Dr. Khalid Abu Amero
Topics: mRNA Purification, DNA Purification, Cloning Vectors, Blotting Methodologies, Plasmids, cDNA, DNA Libraries
10:40 - 11:25 Molecular Genetic Techniques
Dr. Abdelilah Aboussekhra
Topics: Southern Blotting, Northern Blotting, Western Blotting, Gel Electrophoresis, Sequencing, In Situ Hybridization
11:25 - 11:45 Question and Answer Session
11:45 - 13:00 Prayer and Lunch Break
13:00 - 13:45 Inheritance Patterns
Dr. Zuhair Al Hassnan
Topics: Autosomal, X, Y, Mitochondrial and Polygenic, Penetrance, Expressivity and Anticipation.
13:45 - 14:30 Mitochondrial Genetics
Dr. Massimo Zeviani
Topics: Mitochondrial Genome Structure and Function, Interactions Between Nuclear and Mitochondrial Genome
14:30 - 14:45 Prayer and Coffee Break
14:45 - 15:30 Animal Models of Genetic Disease
Dr. Shaheen Nakeeb
Topics: Gene Knockouts, Construction of Transgenic Mice, Cloning Animals by Nuclear Transfer.
15:30 - 16:15 Gene Mapping and The Human Genome Project
Dr. Brian Meyer
Topics: Polymorphism, Association, LOD Score Analysis, Techniques of Gene Mapping, Linkage Disequilibrium Overview of the HGP
16:15 - 16:45 Question and Discussion
16:45 - 17:00 Closing Remarks
Dr. Moeen Al-Sayed / Dr. Edward Cupler
End of Worksho
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