ENFERMEDADES GENETICAS - JosÃ© Mordoh

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OTC and Jesse Gelsinger • Jesse’s story led to immediate halt of this trial and review of all gene therapy trials to determine what happened and how to prevent future tragedies. • Autopsy results suggest that Jesse had had an infection with parvovirus which may have sensitized his immune system so it attacked the adenovirus used to treat the OTC. • The adenovirus did not target liver cells as intended but macrophages, immune cells that set off an immune response. • Reform of gene therapy trials continues. • Weekly reports of adverse effects have been instituted.
Inmunoterapia génica Inducir una respuesta inmune anti-tumoral Modificar células tumorales ex vivo con el gen terapéutico, seguido por la reincorporación de las células modificadas al paciente (luego de haber irradiado las células para prevenir posteriores divisiones celulares) Genes terapéuticos: IL- 1, IL-2, IFN--IL- 12, IL-6, IL-7 Gen terapéutico: B7 (CD80 /86) Generar una respuesta inmune inflamatoria acompañada de un efecto bystander Manipular la forma en que los antígenos de células tumorales son presentados al sistema inmune
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ENFERMEDADES GENETICAS MEDICINA MOL
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Cariotipo normal
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RNA Splicing RNA transcript before
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Transcriptional Regulation: I: Meth
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X Chromosome Inactivation (Lyonizat
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X X X X X X X X Black Fur Orange Fu
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Y-chromosome genes
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Methods of Prenatal Genetic Testing
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A diagram of technique of amniocent
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• Further more it is vital that w
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DEFINICIONES • LOCUS: Segmento de
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RFLP (Restriction Fragment Length P
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ENFERMEDADES GENETICAS (3-5%) • T
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Meiosis Parent cell - chromosome pa
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Nondisjunction of X chromosome Nond
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Down syndrome—maternal age effect
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Frequent Chromosome Abnormalities D
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48,XXXY
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SINDROMES KLINEFELTER Y TURNER
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EXAMPLES OF DIFFERENT TYPES OF MUTA
Page 50 and 51: Types of Mutation • Deletion - DN
Page 53 and 54: PENETRANCIA Está definida por la e
Page 55: Selected Monogenic Disorders Autoso
Page 58: Destrucción del tejido pulmonar en
Page 61 and 62: ENFERMEDADES MULTIFACTORIALES O RAS
Page 63 and 64: SINDROME DE RETARDO MENTAL POR X FR
Page 67: Triplet Repeat Diseases
Page 70 and 71: Principles of Molecular Medicine, 1
Page 72 and 73: Genomic Imprinting • Some genes a
Page 77 and 78: ENFERMEDADES GENETICAS • Trastorn
Page 86: La Terapia Génica
Page 89 and 90: CLASIFICACION DE LA TERAPIA GENICA
Page 91: Sistema de transferencia de genes t
Page 94 and 95: CONDICIONANTES DEL ÉXITO DE LA TG
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Page 99: Gene therapy: ornithine transcarbam
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Page 106 and 107: Toxicidad de la terapia génica
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ENFERMEDADES GENETICAS - JosÃ© Mordoh

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