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EJP on Rare Diseases InfoDay and Brokerage Event
Prof Dr Mustafa Yavuz KÖKERDepartment of Immunology in Faculty of Medicine
University of Erciyes
E-RARE; European Research Projects on Rare DiseasesGenetics and pathogenesis of chronic granulomatous disease and development
of new gene transfer therapeutic approachesEURO-CGD, Tübitak 110S252 EU project
ABOUT US• I was the director of European Research Projects on Rare Diseases, Supported by TÜBİTAK,project 110S252 and 114S252 in Turkey. We completed molecular diagnosis of 150 CGD patients
• EURO-CGD: Genetics and pathogenesis of chronic granulomatous disease anddevelopment of new gene transfer therapeutic approaches.
• We collaborated with scientists from 4 countries
• Italy; Alessandro Aiuti (director), Paulo Rossi• Netherlands; Taco Kuijper, Dirk Roos, Paul Coffer• Germany:Manuel Grez
• Turkey: M Yavuz Köker, Yıldız Camcıoğlu,
OUR RESEARCH INTERESTS
• We are focused on thediagnosis of neutrophildefects.
• We can develop diagnosticalgorithms for otherimmundeficiency diseasestoo.
• To reduce costs and usesources effectively.
Example: Diagnostic algorithm for immune deficiencyChronic Granulomatous Disease
We work with more than 20 University Hospital, for the diagnosis of the rare disease CGD.
According to numberof patients, now we collected 150 CGD patient.
OUR PROJECT IDEA
• Project Title: LFD Kit of Neutrophil Function (KONF) for diagnosis of Chronic Granulomatous Disease
• Objectives:
§ to develop screening kit for the measurement of neutrophil function
§ to screen patients with severe infection for neutrophil disorders
§ It will useful for all patients with severe infection in the intensive care units.
• Kök biotek is an R&D firm that operates in the Technology Development Zone of Erciyes University and cooperates withImmunology Department of Erciyes University .The firm is developing a diagnostic kit that will be used for patients with severe
infections, specifically chronic granulomatous disease (CGD) which is a rare inherited and life threatening primary immunedeficiency disorder that affects phagocytic cells.
Recently, we work on lateral flow device (LFD) project for screening of CGD in especially rural areas (lack of specialised laboratory).
Another rare disease project: Leucocyte adhesison deficiency, LAD I, II andIII• Functional and Molecular diagnose: • Sub group analysis
Current and Required Partners
No Partner Name Type Country Role in the Project
01 Department of İmmunology Univ. Turkey Development process and scientific
backgrounds02 Kök biotek company SME Turkey Technocity of Erciyes, Kayseri
03 Looking for partner Ind. Turkey orEurope Lateral flow device production
04 Leucocyte adhesisondeficiency Univ. Turkey Open for collaboration
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