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TEACHING ABOUT HUMAN GENETIC DISEASES FOR AP SUCCESS DAVID SADAVA, PH.D. Lung Cancer Specialist The Claremont Colleges CASE 1: AN ANCIENT RITUAL CIRCUMCISION: AN ANCIENT RITUAL CIRCUMCISION RULES Genesis 17 10 This is my covenant with you and your descendants after you, the covenant you are to keep: Every male among you shall be circumcised. 11 You are to undergo circumcision, and it will be the sign of the covenant between me and you. 12 For the generations to come every male among you who is eight days old must be circumcised, Luke 2:21 21On the eighth day, when it was time to circumcise him, he was named Jesus, the name the angel had given him before he had been conceived. CIRCUMCISION RULES Talmud: Biblical commentary 200-500 CE CIRCUMCISION RULES “It once happened with four sisters at Sepphoris that when the first had circumcised her child he died [of exsanguination], when the second died similarly, and the third also died. The fourth sister came before [the rabbi] who told her, ‘you must not circumcise the child’” CIRCUMCISION RULES “If a woman had her first child circumcised and he died as a result of the circumcision…and similarly her second child –whether the latter child was from her first husband or second husband – the third son may not be circumcised” HUMAN CHROMOSOMES SEX CHROMOSOME INHERITANCE SEX LINKAGE OF HEMOPHILIA TREATMENT OF HEMOPHILIA Antihemophilic Factor (Recombinant) Recombinate CASE 2: PHENYLKETONURIA A MEDICAL MYSTERY Ferric chloride Glucose Control Patients Asbjorn Folling 1934 A MEDICAL MYSTERY SOLVED MEDICAL GENETICS GENETIC DISEASE NEWBORN SCREENING FOR PKU Vol. 72 No. 3 September 1983, pp. 390-398 Newborn Screening for Phenylketonuria: Predictive Validity as a Function of Age Edward R. B. McCabe MD, PhD, Linda McCabe PhD, Gayle A. Mosher MS, Richard J. Allen MD, and Julian L. Berman MD Hospital loses $70 million lawsuit REDWOOD CITY -- Cara Cook says no amount of money can take back the amount of pain her young son has suffered in nine years. But the mother of four said a San Francisco jury's decision to award her family more than $70 million in their suit against Stanford Hospital and Palo Alto Medical Clinic will provide resources to her son Michael, who was diagnosed with a rare metabolic disorder at age 5. "I'd give it all back to have a healthy child, every penny so Michael can have a normal life," Cook said. Michael, 9, suffered irreversible brain damage and is developmentally disabled because of delayed diagnosis and treatment of his disorder, known as phenylketonuria, or PKU. Those with PKU cannot metabolize a certain amino acid that is found in meats and dairy products. The Redwood City family sued the two medical facilities after learning that the Stanford Hospital medical staff administered a standard blood screening test for metabolic disorders when their son was just 4 hours old. Cara Cook said administering the test so soon after birth can often lead to a failure in detecting the disorder, as happened in Michael's case. Cook said in order for such a screening test to be accurate, it shouldn't be done at least until after a newborn has digested some food, or after 24 hours. MEDICAL TREATMENT CASE 3: SICKLE CELL DISEASE SICKLE-CELL DISEASE SICKLE CELL DISEASE AND MALARIA Malaria Sickle-cell disease SICKLE-CELL DISEASE AND HEMOGLOBIN SICKLE CELL ANEMIA: MOLECULAR DIAGNOSIS Volume 307 July 1, 1982 A sensitive new prenatal test for sickle-cell anemia J. C. Chang and Y. W. Kan TESTING FOR GENETIC DIFFERENCES IN DNA TESTING FOR SICKLE CELL ANEMIA BY DNA ANALYSIS CASE 4: CANCER AS A GENETIC DISEASE: DIAGNOSIS CANCER CHARACTERISTICS Inappropriate cell reproduction CANCER CHARACTERISTICS Loss of cell specialization SCLC and normal lung cells CANCER CHARACTERISTICS Metastasis CANCER CHARACTERISTICS Angiogenesis CANCER MOLECULAR BIOLOGY Tumor DNA changes determine the properties of tumor cells CANCER DNA EXPRESSION Growth factors to stimulate cell reproduction is expressed in cancer cells as proteins such as.. DNA…. Enzymes to produce harmful substances Scaffolds to change cell structures THE DNA GENES CHANGED IN CANCER ONCOGENES: “Gas pedals” to stimulate cell reproduction TUMOR SUPPRESSOR GENES: “Brakes” cut off so reproduction is allowed to occur ONCOGENES TUMOR SUPPRESSOR GENES COLON CANCER 112,000 new cases, 52,000 deaths, USA, 2007 THE PATH TO COLON CANCER THE PATH TO COLON CANCER Mutation in APC gene: Polyp Mutation in DCC gene: Adenoma Mutation in p53 gene: Carcinoma Mutation in ras gene: Precancerous lesion Mutation in antimetastasis genes: Metastatic tumor BREAST CANCER 181,000 new cases, 41,000 deaths, USA, 2007 Letters to Nature Nature 415, 530-536 (31 January 2002) | Gene expression profiling predicts clinical outcome of breast cancer Laura J. van 't Veer and others GENE EXPRESSION SIGNATURE GENE EXPRESSION SIGNATURE FOR BREAST CANCER Green: Good Prognosis Red: Poor prognosis CASE 5: CANCER AS A GENETIC DISEASE: TREATMENT LEUKEMIA CANCER CHEMOTHERAPY SHUFFLING THE GENETIC DECK IN CANCER 9 9 (q+) Ph 22 (22q-) bcr bcr-abl abl FUSION PROTEIN WITH TYROSINE KINASE ACTIVITY TARGETING THE NEW PROTEIN IN LEUKEMIA April 5, 2001 Efficacy and Safety of a Specific Inhibitor of the BCRABL Tyrosine Kinase in Chronic Myeloid Leukemia Brian J. Druker, M.D., Moshe Talpaz, M.D., Debra J. Resta, R.N., Bin Peng, Ph.D., Elisabeth Buchdunger, Ph.D., John M. Ford, M.D., Nicholas B. Lydon, Ph.D., Hagop Kantarjian, M.D., Renaud Capdeville, M.D., Sayuri Ohno-Jones, B.S., and Charles L. Sawyers, M.D. GLEEVEC -- THE PROTOTYPE DRUG FOR MOLECULAR MEDICINE • Rob wrote: Just received my 9 month results from Portland. Of the 200 cells examined by FISH, there is no evidence of the Philadelphia Chromosome. I am very thankful to everyone involved with Gleevec, and pray that everyone else on the drug, or soon to be on the drug, has the same extraordinary results! Stay well, Rob dx 11/98 Gleevec 1/00 A Big Fat Zero 9/00 TEACHING ABOUT HUMAN GENETIC DISEASES FOR AP SUCCESS Hemophilia Phenylketonuria Sickle-cell disease Cancer diagnosis Cancer treatment