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Molecular Diagnosis Applications Molecular Diagnostics • Excellent sensitivity and specificity – Minimal residual disease • Genotype not phenotype – Prior to appearance of symptoms • Classification of related diseases – Critical treatment decisions • Diagnostic • Prognostic • Predictive Molecular Pathology A Universal Discipline of Laboratory Medicine INFECTIOUS DISEASE HEMATOLOGY Molecular Pathology SOLID TUMORS IDENTITY TESTING GENETIC DISEASE The Fight Against Disease • The human population is growing and people are living longer • Medical and technical knowledge is always increasing • More diseases can be predicted, diagnosed and properly treated than ever before in history • Still, cancer and infectious diseases kill millions per year worldwide The Cancer Dilemma • Even with tests for early detection, the ability to change one’s lifestyle, the availability of treatments or even cures, this disease still causes immense suffering The newest DNA-based techniques are making great headway in studying cancer to find new treatments for improving and prolonging quality life for patients. Chronic Myelogenous Leukemia • A slowly progressing disease in which too many white blood cells (not lymphocytes) are made in the bone marrow. Too many WBCs crowd the healthy cells and consume the nutrients/resources they need to develop properly. Also called chronic granulocytic leukemia, chronic myeloid leukemia, and CML. • Most people with CML have a gene mutation (change) called the Philadelphia chromosome. – Part of the DNA from one chromosome moves to another chromosome. This change is called the “ Philadelphia chromosome.” It results in the bone marrow making an enzyme, called tyrosine kinase, that causes too many stem cells to become white blood cells (granulocytes or blasts). – The Philadelphia chromosome is not passed from parent to child. CML Philadelphia chromosome. A piece of chromosome 9 and a piece of chromosome 22 break off and trade places. The bcr-abl gene is formed on chromosome 22 where the piece of chromosome 9 attaches. The changed chromosome 22 is called the Philadelphia chromosome. Fluorescence in situ hybridization (FISH) • Test that “maps” the genetic material in a person’s cells • Can be used to visualize specific genes or portions of genes • Done on breast cancer tissue removed during biopsy to see if the cells have extra copies of the HER2 gene – The more copies of the HER2 gene that are present, the more HER2 receptors the cells have. These HER2 receptors receive signals that stimulate the growth of breast cancer cells. FISH: Fluorescence in situ Hybridization in Cancer Diagnosis Her2/neu gene amplification is found in some breast cancers. Amplification of genes can contribute to the development of cancer and can be detected using FISH among other assays. Disease Causing Microorganisms • The immune system is constantly under siege and can at times be overcome by viruses, bacteria, and fungi • Molecular testing is more sensitive and specific than traditional assays, so diagnosis is improved • It is now possible to know which drugs a particular bacterium will be resistant to and how many organisms compose an infection Mycobacteria tuberculosis Present-day, worldwide vaccination programs have greatly reduced suffering from Mycobacteria tuberculosis. Molecular Tests for TB • The hsp65 gene is present in all Mycobacteria organisms • Restriction enzyme digestion of the gene with BstEII and HaeIII allows identification of particular species • Treatment is species-specific • Molecular assays are rapid while most traditional lab tests are not Branched DNA Technology This method of signal amplification is widely used to measure HIV viral load http://www.youtube.com/watch?v=-bIJt7zsx2k Viral Isolation Methods • Viral Isolation (HSV) – see handout – Positive result: average 108 hours – Negative result: average 154 hours Hybrid Capture® II HPV DNA Test • Human Papilloma Virus (HPV) • Primary cause of cervical cancer • Over 70 specific types • Assay is simple but sensitive Release and denature nucleic acids Digene® Hybridize RNA probe with target DNA Digene® Capture RNA:DNA hybrids onto a solid phase (in tube or microplate format) Digene® React captured hybrids with multiple antibody conjugates Digene® Detect amplified chemiluminescent signal Digene® Genetic Disorders • Single gene, one mutation – Sickle cell anemia • Single gene, multiple mutations – Cystic fibrosis • Multiple genes – Hereditary thrombophilia – Cancer Sickle Cell Anemia • Serious disorder in which the body makes sickle-shaped red blood cells • Normal RBCs contain an iron-rich protein called hemoglobin which carries oxygen from the lungs to the rest of the body • Sickle cells contain abnormal hemoglobin which causes the cells to develop a sickle, or crescent, shape – stiff and sticky – tend to block blood flow in the blood vessels of the limbs and organs causing pain and organ damage – can also raise risk of infection • Detection = blood test Sickle Cell Anemia Sickle Cell Anemia Cystic Fibrosis (CF) • Inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the U.S. (70,000 worldwide) – Defective gene and its protein product cause the body to produce unusually thick, sticky mucus • 1950s: few children with CF lived to attend elementary school – Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF (live into 30s, 40s, +) Testing for CF • Newborn Screening – checks for a chemical (immunoreactive trypsinogen – IRT) made by the pancreas – normally found in small amounts in the body • Genetic Carrier Testing – blood test – more than 10 million Americans are symptomless carriers of the defective CF gene – To have CF, a child must have 2 alleles for CF Cystic Fibrosis Multiple Genes • Hereditary Thrombophilia – group of inherited or acquired disorders that increase a person’s risk of developing thrombosis (abnormal “blood clotting”) in the veins or arteries • Cancer – the uncontrolled growth of abnormal cells in the body Multiplex PCR M B N A 1 2 3 4 5 6 7 8 9 10 11 12 13 Factor II Factor V Mutated genes for some coagulation factors contribute to Hereditary Thrombophilia which has high morbidity and moderate mortality. Multiplex PCR can rapidly detect deletions or duplications in a large gene. Future of Medicine http://www.ted.com/talks/daniel_kraft_medicine_s_future.html (Video: 18:21)