Slayt Basligi Yok

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RESEARCH INFRASTRUCTURE LIFE SCIENCES, GENOMICS
AND BIOTECHNOLOGY FOR HEALTH MERAL
ÖZGÜÇ Hacettepe University, Faculty of
Medicine FP6-National Contact Point -LIFE
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Organisation of Research and Education

• Life Sciences
• Universities
• Medical Schools
• Medical Biology
• Faculty of Science
• Dept. of
• Mol. Biol.and Gen.

• Genomics
• Clinical Labs
• Genetic
• Services
• Infrastructure
• Biological Resource Centers
• Oncology Institutes
• (MoH - Cancer Registries)

• Biotechnology
• Graduate
• Programs
• Institutes

Özgüç, 30 June 2003
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Life Sciences Departments of Molecular Biology
and Genetics (1990s) Research and Education
METU (Middle East Technical University), Ankara
Bogazici University, Istanbul Bilkent
University, Ankara Departments of Medical Biology
(1980s) Research / Education - Diagnostic Units,
Genetic Testing
Özgüç, 30 June 2003
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HISTORY OF MEDICAL GENETICS 1964 - Establishment
of Genetic Units Departments of Pediatrics -
Clinical Genetics and Cytogenetics Ankar
a University Hacettepe University,
Ankara Istanbul University 2003 --- 25-30
laboratories for cytogenetic analysis 1990 s -
Molecular Genetics Diagnostics Units 500 - 1000
genetic tests / year (6 Universities, 10
Labs) Hacettepe Uni., Ankara Uni., Istanbul
Uni., 9 Eylül (Izmir), Akdeniz Uni. (Antalya),
Bilkent Uni. (Ankara)
Özgüç, 30 June 2003
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Population Background Demography /
Infrastructure Population 68 million (census
2000) Demographic indicators 0-14 yrs
30 15-64 yrs 64.4 65 yrs 5.6 Infant
mortality rate (per thousand) 1993 - 53
1997 - 39.8 2000 - 35.3 Control of
diarrheal diseases and upper respiratory tract
infections Emergence of genetic disorders and
childhood cancers
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• Population Indicators for Medical Genetic
  Research
• Consanguinity 21 (general population)
• 35 Eastern Anatolia
• contributes to high incidence of autosomal
  recessive
• inherited disorders
• Long child bearing age esp. in rural areas
• Large families with multiple affecteds
• Large pedigrees suitable for identification of
  new
• disease genes
• Unique gene pool long history of migrations,
• region specific disorders

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Özgüç, 30 June 2003
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• Genomics
• Genetic Epidemiology
• Single Gene Disorders
• Common Disorders
• Familial Cancers
• Identification of New Disease Genes
• (Homozygosity Mapping)
• Infrastructure - Biological Resource Centers
• 1995 - TUBITAK DNA/Cell Bank (www.dna.tubitak
  .gov.tr)
• Registry for rare genetic disorders

Özgüç, 30 June 2003
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• Genomics
• Single Gene Disorders
• Hemoglobinopathies
• Familial Mediterranean Fever (FMF)
• Neurological and Metabolic Disorders
• Hyperphenilalanemia ( 1/4,000)
• DMD, SMA, Storage disorders,
• galactosemia, CF, mitochondrial
  cytopathies

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• Genomics
• Cancer Genetics
• Bilkent University (Ankara)
• (Hepatocellular carcinoma, breast / prostate
  cancers)
• Oncology Institutes (Istanbul, 9 Eylül - Izmir,
• Hacettepe - Ankara)
• Ministry of Health - Cancer Control Dept.
• Cancer Registry
• Genetic Epidemiology of Familial Cancers
• High Regional Prevelance - Mesothelioma
• (www.tr-mesothelioma.org.tr)

Özgüç, 30 June 2003
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Identification of New Disease Genes Topaloglu,
H., Pinarli, G., Erdem, H., Gücüyener, K.,
Karaduman, A., Topçu, M., Akarsu, A. N., Özgüç,
M., 1998. Clinical Observations in Autosomal
Recessive Spastic Paraplegia in Childhood and
Further Evidence for Genetic Heterogeneity.
Neuropediatrics., 29 189-194. Topçu, M.,
Gartioux, C., Ribierre, F., Yalçinkaya, C.,
Tokus, E., Öztekin, N., Beckmann, J. S., Özgüç,
M., and Seboun, E., 2000. Vacuoliting
Megalencephalic Leukoencephalopathy with
Subcortical Cysts, Mapped to Chromosome 22qtel.
Am. J. Hum. Genet, 66(2)733-739.
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Biotechnology MRC-TUBITAK- Genetic Engineering
and Biotechnology Research Institute) -
Istanbul METU (Institute of Natural and Applied
Sciences-Biotechnology Graduate Program) -
Ankara Depts of Bio, Chem, Chem Eng,Food Eng,
Env Sci Ege University (Biotechnology Research
Center) - Izmir
Özgüç, 30 June 2003
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Biotechnology MRC-TUBITAK- Genetic Engineering
and Biotechnology Research Institute) -
Istanbul Transgenic Animal Lab Molecular
Bioenergetics Plant Biotechnology and Molecular
Genetics Immunogenetics Hybridoma
Technology Molecular Cell Biology Industrial
Enzymes
Özgüç, 30 June 2003
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Biotechnology METU (Institute of Natural and
Applied Sciences-Biotechnology Graduate Program)
- Ankara Plant Biotechnology Industrial
Enzyme Processing Energy Production Drug
resistance Production application of bioactive
materials Bioremediation Fungal biotechnology
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INTEGRATION Life/genomics Biotechnology E
pidemiology New diagnostic tools Genetic
testing Cellular and Gene New genes
Therapies Therapy Drug Design Tissue
Engineering
Development of high-throughput technologies
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Collaborations with Centers in France TUBITAK
- CNRS Genepole, Evry CNG (The National
Center for Genotyping) CNS (The National Center
for Sequencing) Genethon - Gene Therapies
Research and Applications Center -
DNA Bank
Özgüç, 30 June 2003
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TUBITAK- International memberships and
committees (Related to genomics and biotechnology
for health) EMBO (European Molecular Biology
Organisation) ICGEB (International Centre for
Genetic Engineering and
Biotechnology) ESF - Integrated Approaches to
Functional Genomics 2002-2006 OECD WPB
(Working Party on Biotechnology) 2000- WG-HHRB
(Human health related biotechnologies)
Özgüç, 30 June 2003