MAR 22, 2016 11:30 AM PDT

Tu nuevo mejor amigo: Tu relación con el laboratorio de genética

Speaker
  • Chief, Genetics Service, Texas Children's Hosp; Medical Director, Cytogenetics Laboratory, Baylor
    Biography
      I am primarily dedicated to clinical activities in the Department of Molecular and Human Genetics. In the area of clinical genetics, I am involved in the diagnosis and management of patients with birth defects and a variety of genetic disorders and participate in the Skeletal Dysplasia Clinic. I am directly involved in the supervision and training of medical students, residents, and fellows. As the Medical Director of the Kleberg Cytogenetics Laboratory, I have a particular interest in structural chromosomes abnormalities and genomic disorders (contiguous gene deletion/duplication syndromes), as well as the mechanism of origin of these chromosome anomalies. In addition, I have one major area of interest:

      Epigenetics and Disorders of Imprinting: In collaboration with Dr. Arthur Beaudet and Dr. Lisa Noll we are conducting a natural history study for children with Angelman syndrome supported by the Rare Disease Center Research Network (NIH). A group of Angelman syndrome patients are being brought to the Clinical Research Center at Texas Children's Hospital for developmental, clinical and EEG evaluations on a yearly basis. This is allowing us to understand progression, complications and co-morbidities. We have recently concluded two different studies using betaine, creatine and folic acid/metafolin to promote methylation and revert silencing of the paternal allele. This trial attempted to ameliorate the symptoms of Angelman syndrome by altering patterns of imprinting.

    Abstract
    Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente.
    Los conferencistas explicaran el proceso de los estudios desde la toma de la muestra hasta el informe final, así como el seguimiento clínico. Los tipos de muestras y la información necesaria para ordenar un estudio genético serán también descriptos. Los métodos usados en el laboratorio para realizar los estudios genéticos serán explicados así como el tipo de resultados obtenidos. Ejemplos de informes de estudios genéticos y el vocabulario normalmente utilizado en esos informes será discutido, incluyendo términos como VUS (del ingles: variantes de significado incierto), variantes patogénicas, y variantes benignas. Ejemplos de cómo el informe genético será utilizado para ayudar al cuidado medico serán discutidos. Las limitaciones de los estudios serán discutidas, así como las limitaciones en la interpretación de los resultados. Los enfoques que los médicos, pacientes y laboratorios pueden adoptar para mejorar los estudios de laboratorio y su interpretación serán presentados con ejemplos prácticos de cómo estos abordajes pueden ayudar a cada uno de los pacientes.

    Objetivos del aprendizaje
    • Describir que tipo de estudios genéticos son comúnmente efectuados, y que es lo que pueden o no pueden determinar.
    • Leer y comprender los resultados de los estudios genéticos/genómicos mas típicos, así como también el rol del paciente y su medico para mejorar su interpretación.

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