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Introduction, Review of Biomolecules. Lecture 1, Medical Biochemistry. Lecture 1 Outline. Review some basic chemical nomenclature and concepts Review the structural and functional features of different biomolecules Discuss the human genome project and the future of molecular medicine .
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Introduction, Review of Biomolecules Lecture 1, Medical Biochemistry
Lecture 1 Outline • Review some basic chemical nomenclature and concepts • Review the structural and functional features of different biomolecules • Discuss the human genome project and the future of molecular medicine
Common Enzymatic Conversions Oxidation-Reduction Phosphorylation Phosphatase
Terms/Concepts to Review • Hydrophobicity and hydrophilicity • Aromatic and aliphatic • Ionic, or electrostatic, interactions • Hydrogen bonds • van der Waals interactions • Covalent bonds
Major Causes of Disease(from Table 1.1 in text) • Physical Agents: mechanical trauma, temperature extremes, radiation, electric shock • Chemical Agents: toxic compounds, drugs • Biologic Agents: viruses, bacteria, fungi, parasites, biochemistry professors • Genetic Disease • Oxygen Lack: loss of blood, decreased oxygen-carrying capacity of blood, mitochondrial poisoning
Disease Causes (cont.) • Immunologic Reactions: anaphylaxis, autoimmune disorders • Nutritional Imbalances: deficiencies, excesses • Endocrine Imbalances: hormonal deficiencies/excesses
Human Genome Project • A rough draft is complete, >90% sequenced • Represents approximately 75,000 human genes (estimated range: 30,000 to 120,000) • Based on the DNA from six individuals; thus provides little information regarding genetic diversity within the population • Estimated that 95% of our DNA content is not important; represents evolutionary “baggage” • Highlights the need for continued sequencing of genomes from other organisms to identify essential genes and their functions
Proteomics • Proteomics – the study of how all proteins interact with each other in a cell • Estimate 50,000 to 2,000,000 human proteins • The amino acid sequence of a protein can be determined from the gene sequence, but in most cases, this cannot be used to predict overall 3D-structure or function; usually this is done by X-ray crystallography • Only about 1% of proteins have had their 3D structures determined
The Next 40 years in Medicine • Predictions made by Francis Collins M.D./Ph.D., director of the National Human Genome Research Institute
Predictions - 2010 • Primary care providers will practice genetic medicine • Preimplantation diagnoses of fertilized embryos will be widely available • Gene therapy will be routinely used for a few conditions
Predictions - 2020 • Gene-based designer drugs will be marketed for some diseases • Cancer therapies will target the molecular fingerprint of each tumor type • Drug susceptibility will be determined before a prescription is written • Genomic intervention via homologous recombination will be used to insert genes without interfering with neighboring genes
Predictions - 2030 • Human aging genes will be fully catalogued; clinical trials designed to increase life span will be initiated • Computer models of human cells will be available for research • Complete genome sequencing will cost less than $1,000 per person
Predictions - 2040 • Comprehensive genomics-based healthcare will be standard. • Individualized preventive treatments will be available and effective. • Gene therapies and gene-based drug therapies will be available for most diseases. • Newborn testing for disease pre-disposition in adulthood will be feasible. • The average lifespan will reach 90 yrs.