Treatable Genetic Disorders Road to the Cure Hannah Obasi Genomics Medicine Doug Brutlag 3 10 11 Treatable Genetic Disorders Treatment v Cure Treatable Genetic Disorders Chronic Myelogenous Leukemia Acute Promyelocytic Leukemia Biotinidase Deficiency Pompe Disease Treatable Genetic Disorders Chronic Myelogenous Leukemia Acute Promyelocytic Leukemia Biotinidase Deficiency Pompe Disease Treatable Genetic Disorders Chronic Myelogenous Leukemia What is it Cancer of blood cells Proliferation disorder of pluripotent stem cell Myeloid erythroid megakaryocytic B lymphoid etc Possibly enlarged spleen and liver Treatable Genetic Disorders Chronic Myelogenous Leukemia What causes the overproliferation Philadelphia chromosome Treatable Genetic Disorders Chronic Myelogenous Leukemia What causes the overproliferation Translocation event between 9 22 Fuses BCR and ABL gene Activates tyrosine kinase activity Treatable Genetic Disorders Chronic Myelogenous Leukemia What causes the overproliferation Translocation event between 9 22 Fuses BCR and ABL gene Activates tyrosine kinase activity Treatable Genetic Disorders Chronic Myelogenous Leukemia Diagnosis Complete blood count Detecting the Philadelphia chromosome PCR for the BCR ABL gene Treatment Imatinib STI571 Brand name Gleevec Deactivates BCR ABL protein Treatable Genetic Disorders Chronic Myelogenous Leukemia Acute Promyelocytic Leukemia Biotinidase Deficiency Pompe Disease Treatable Genetic Disorders Acute Promyelocytic Leukemia What is it Similar to CML Cancer of the blood bone marrow Deficiency of mature cells in myeloid line Excess immature cells promyelocytes Symptoms Fatigue Minor infections Hemorrhagic diathesis Anemia Treatable Genetic Disorders Acute Promyelocytic Leukemia What causes the overproliferation Treatable Genetic Disorders Acute Promyelocytic Leukemia What causes the overproliferation Translocation event between 15 and 17 PML RARa fusion gene PML growth suppressor transcription factor RARa retinoic acid receptor alpha Regulates myeloid differentiation Treatable Genetic Disorders Acute Promyelocytic Leukemia Diagnosis Complete blood cell count Chromosome phenotype Test for PML RARa gene Treatment Treatable Genetic Disorders Acute Promyelocytic Leukemia Treatment ATRA all trans retinoic acid Malignant cells phenotypically mature myeloid cells Treatable Genetic Disorders Chronic Myelogenous Leukemia Acute Promyelocytic Leukemia Biotinidase Deficiency Pompe Disease Treatable Genetic Disorders Biotinidase Deficiency What is it Autosomal recessive Absence of biotinidase Function of biotinidase Treatable Genetic Disorders Biotinidase Deficiency What is it Autosomal recessive Absence of biotinidase Function of biotinidase Biotin cycling Carboxylase enzyme co activation Deficiency symptoms infantile or early childhood encephalopathy seizure disorder dermatitis alopecia neural deafness optic atrophy Treatable Genetic Disorders Biotinidase Deficiency What causes the deficiency BTD gene mutation Treatable Genetic Disorders Biotinidase Deficiency Diagnosis Measure biotinidase enzyme activity Test BTD gene Treatment Biotin therapy Children 5 10 mg day Treatable Genetic Disorders Chronic Myelogenous Leukemia Acute Promyelocytic Leukemia Biotinidase Deficiency Pompe Disease Treatable Genetic Disorders Pompe Disease What is it Glycogen storage disease type II Acid maltase deficiency Buildup of glycogen in cells Impairs cell function Autosomal recessive Symptoms Classic infantile onset Muscle weakness Cardiomegaly Feeding difficulties Respiratory distress Hearing loss Non classic infantile onset Motor delays Ventilatory failure death Treatable Genetic Disorders Pompe Disease What causes the disease Mutation in GAA gene Treatable Genetic Disorders Pompe Disease Diagnosis Measure alpha glucosidase GAA enzyme activity Test GAA gene Treatment enzyme replacement therapy ERT with Myozyme or Lumizyme Treatable Genetic Disorders last note Treatment v Cure Gene Therapy Stem Cell Research References http www ncbi nlm nih gov books NBK22180 http www ncbi nlm nih gov omim 608232 http www ncbi nlm nih gov pubmedhealth PMH0000345 http www hai bin net CMLinfomation htm http www biooncology com research bcell introduction activation index html http www nlm nih gov medlineplus ency article 000542 htm http www medterms com script main art asp articlekey 19758 http www meds com leukemia guide guide chapter3 html http www scielo br scielo php pid S1516 84842008000800009 script sci arttext http www emro who int publications emhj 0506 20 htm http ghr nlm nih gov gene BTD http wiki medpedia com Glucosidase alpha 3B acid GAA http ghr nlm nih gov condition pompe disease http www ncbi nlm nih gov books NBK1261 http alevelnotes com content images i17 glycogen gif
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