Roles
Chair, Dr. John T. Macdonald Foundation Department of Human Genetics
Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Department of Otolaryngology and Department of Ophthalmology, Bascom Palmer Eye Institute
Chief, Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
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Biography
Dr. Mustafa Tekin is chair of the Dr. John T. Macdonald Foundation Department of Human Genetics and chief of the Division of Clinical and Translational Medicine. He graduated from Ankara University School of Medicine in 1992 and completed residency training in pediatrics at the same university and in clinical genetics at Virginia Commonwealth University. Dr. Tekin completed fellowship training in molecular genetics/cytogenetics at the University of Miami. He is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Laboratory Genetics and Genomics. He serves as Interim Chair of DHG and Chief of the Clinical and Translational Genetics Division. Dr. Tekin is CLIA Laboratory Director of the Biochemical and Molecular Genetics Diagnostic Laboratory and Director of Laboratory Genetics and Genomics and Medical Biochemical Genetics Fellowship Programs. He is also director of the Miami Site of the NIH-funded Undiagnosed Diseases Network and NORD Center of Excellence in Rare Diseases, and a member of Florida Rare Disease Advisory Committee. As a clinician-scientist, he provides care to children and adults with suspected or diagnosed genetic disorders and runs research programs to delineate phenotype and define etiology in rare genetic disorders with an emphasis on hereditary hearing loss. -
Education & Training
Education
Post Graduate Training
Licensures and Certifications
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Honors & Awards
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Teaching Interests
Dr. Tekin is the course co-director of GNM602- Clinical Applications in Genomic Medicine II and GNM631-Genomic Medicine Laboratories in the Masters in Genomic Medicine joint degree program. In GNM602 hypothetical and real cases are discussed to comprehend the utilization of genomic tools in diagnosing and treating patients with different scenarios. In GNM631, following instructions for the analysis of the human genome, students are given genomic data with clinical information to analyze and identify potentially causative variants. Students who are interested in following up with their cases after the completion of the class continue these projects as scholarly activities. -
Research Interests
Dr. Tekin`s research is focused on phenotypic, genotypic, and functional characterization of hereditary disorders with an emphasis on hereditary deafness. His ongoing studies supported by the NIH, foundations, and philanthropic efforts aim to understand the mechanisms of rare genetic conditions and develop intervention strategies. Among his contributions to medicine are discoveries of novel genetic syndromes and more than two dozen novel genes causing rare human disorders. -
Publications
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Professional Activities
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