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1. Molecular Diagnostics: Emergence
The information revolution in molecular biology is permeating every aspect of medical practice
The rate of disease gene discovery is increasing exponentially, which facilitates the understanding diseases at molecular level
➢ In principle, their findings have set the foundations of molecular diagnostics.
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Sickle Cell Anemia
Figure A. Normal red blood cells flowing freely in a blood vessel. The inset image shows a crosssection of a normal red blood cell with normal hemoglobin.
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1. Molecular Diagnostics: Goal
To introduce essential concepts in molecular diagnostics that impact on the identification of novel markers of human diseases
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2. History of Molecular Diagnostics
The Molecular Biology Timeline
1865 1866 1949 1953 1970 1977 1985 2001
Gregor Mendel, Law of Heredity Johann Miescher, Purification of DNA Sickle Cell Anemia Mutation Watson and Crick, Structure of DNA Recombinant DNA Technology DNA sequencing In Vitro Amplification of DNA (PCR) The Human Genome Project
Figure B. Abnormal, sickled red blood cells clumping and blocking blood flow in a blood vessel. The inset image shows a crosssection of a sickle cell with abnormal hemoglobin.
To develop and apply usefudisease, determine appropriate treatment strategies, and predict disease outcomes.
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Concept of Molecular Diagnostics History of Molecular Diagnostics Impact on Human Diseases Basis for Molecular Assay Management of the course
To face the new century, the medical practitioner not only understand molecular biology, but must also embrace the use of this rapidly expanding body of information in his medical practice, whether practicing family medicine, oncology, obstetrics and gynecology, pathology, or any other medical specialty.
MOLECULAR DIAGNOSITICS 天津医科大学
Introduction to Molecular Diagnostics
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1. Molecular Diagnostics
Molecular diagnostics combines laboratory medicine with the knowledge and technology of molecular genetics and has been enormously revolutionized over the last decades, benefiting from the discoveries in the field of molecular biology.
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2. History of Molecular Diagnostics
Sickle cell anemia
➢Sickle cell anemia is a genetic disease which is caused by a single nucleotide change in the 6th aa of the -chain of hemoglobin.
➢ Pauling introduced the term molecular disease in the medical vocabulary, based on their discovery that a single amino acid change leads to a sickle cell anemia.
Molecular understanding of disease is translated into diagnostic testing, therapeutics, and eventually preventive therapies
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1. Molecular Diagnostics: Significance