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Course Coordinator: Fatih Ezgü |
14.00 - 14:15 |
Welcome and Introduction
Mehmet Vural
Point to be Covered
• Introduction of the Agenda
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14:15 - 14:30 |
General Overview of Rare Diseases and Their Treatments in the “0mics” Era
Yasemin Alanay
Point to be Covered
• Definition of Rare Disease
• Emerging Needs for Treatment
• Current Status of Research and Approved Treatments
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14:30 - 14:45 |
Advancements in Pre-clinical Drug Development for Rare Diseases
Fatih Ezgü
Point to be Covered
• Wet-lab Techniques for Drug Development
• Virtual Techniques for Drug Development
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14:45 - 15:00 |
Clinical Trials for Rare Diseases
Fatih Ezgü
Point to be Covered
• End-points for Clinical Trials
• Types of Clinical Trials
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15:00 - 15:15 |
Enzyme Replacement Therapy and Sphingomyelinase Deficiency as an Example
Sema Kalkan Uçar
Point to be Covered
• General Overview of ERTs
• General Introduction of NPD
• Efficacy and Safety of Olipudase Alfa
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15:15 - 15:30 |
Q&A
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15:30 - 16:15 |
LUNCH
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16:15 - 16:30 |
General Introduction to AAV Based Gene Therapy and AADC Deficiency as an Example of Targeted Application
Fatih Ezgü
Point to be Covered
• Introduction to AAV based gene therapy
• İmmune reactions
• AADC deficiency as an targeted application
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16:30 - 16:45 |
Gene Therapy for Haemophilia: An example of Systemic Application
Kaan Kavaklı
Point to be Covered
• Efficacy and Safety of Gene Therapy for Haemophilia
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16:45 - 17:00 |
Approved and Upcoming Treatments for Skeletal Dysplasias
Yasemin Alanay
Point to be Covered
• Efficacy and Safety of Voxzogo for Achondroplasia
• Research for New Treatment Options
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17:00 - 17:15 |
New Treatments for SMA
Uluç Yiş
Point to be Covered
• Efficacy and Safety of Gene and Other Therapies for SMA
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17:15 - 17:30 |
Q&A
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17:30 - 18:00 |
Break
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18:00 - 18:15 |
Upcoming Treatments for Rare Diseases
Fatma Derya Bulut
Point to be Covered
• Discuss About Recent Search for the Treatment of Rare Diseases
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18:15 - 18:30 |
Idebenone Treatment for Leber’s Hereditary Optic Neuropathy
Melike Ersoy
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18:30 - 18:45 |
Safety and Efficacy of Velmanase Alfa for the Treatment of Mannosidosis
Fatih Ezgü
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18:45 - 19:00 |
Q&A
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19:00 - 19:30 |
Break
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19:30 - 19:45 |
Enzyme Replacement Therapy for ADA-SCID. What Do We Know Up to Now?
Deniz Çağdaş Ayvaz
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19:45 - 20:00 |
Q&A
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20:00 - 20:15 |
Wrap Up
Mehmet Vural
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