#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey
What if we could ease the suffering of patients with undiagnosed or rare diseases?
In this episode, we explore how genomics is reshaping care for some of the most medically complex patients, focusing on the rare disease landscape in Turkey. Our guests are Professor Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Center for Genetics and Rare Disease Diagnosis and Research, and Alice Peng from MGI Tech, a global leader in gene sequencing innovation.
Together, they offer a powerful global perspective on the challenges and solutions in rare disease diagnostics, from rapid whole genome sequencing in the NICU to affordable access in developing regions.
Alice (Yao) Peng, Sales Manager of MGI, is responsible for the Turkish Market. She has been working in the genomics field for eight years, the last five have been with MGI. Her background is in preventive medicine, and she is passionate about bringing innovative genetic solutions to customers in Turkey.
Professor Dr. Serdar Ceylaner is a medical doctor - medical geneticist who focuses on rare and undiagnosed diseases for both diagnosis and scientific studies. He is the director, partner and founder of Intergen Genetics and Rare Diseases Diagnostic and Research Center and Lokman Hekim University, Department of Medical Genetics. He holds various leadership positions including being the Vice President of the Rare and Undiagnosed Diseases Committee, of the European Union of Medical Specialists (UEMS).
Dr. Ceylaner is the former president of the Turkish Medical Genetics Association. He was the founder of the Genetics Department of Zekai Tahir Burak Women's Health and Training Hospital between 1997 and 2017. He has focused on genetics and rare diseases and studies in this field for 30 years. He established a center for diagnosis, research and educational work in this field. Undiagnosed diseases, medical complications, and intensive care unit patients are the main research areas in recent years. He has experience in more than 250 international publications, 10 book chapters, more than 500 conferences, and more than 50 scientific projects.
Topics include:
The rare disease burden in Turkey and the impact of consanguinity
Prevalence of dual or triple diagnoses in Turkey and the impact of tailoring treatment
Why exome and genome sequencing are replacing panel testing
The diagnostic power of rapid WGS in NICUs
Tools MGI offers to accelerate analysis and interpretation
Making sequencing more accessible in low-resource settings
The role of genomics in precision prescribing
Opportunities to improve patient quality of life post-diagnosis
What’s next for sequencing innovation and rare disease care
Relevant Resources:
DNA Today Episode #109 Shenela Lakhani on Genetic Counseling in Qatar
Dr. Serdar Ceylander’s INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center
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