Academy meeting highlights advances in detecting Amish, Jewish, and Icelandic genetic diseases

12/06/04

Genomic Medicine Discussion Group set for December 8 at 4 p.m. at Rockefeller University

NEW YORK - As a result of the Human Genome Project, we are now able to locate genetic mutations and know much more about a person's medical future than ever before. For genetic diseases that are endemic among certain peoples, such as the Icelandic, Ashkenazi Jewish, Old World Amish, and Micronesian populations, genetic testing programs designed to identify disease-related genes may prevent and treat diseases such as sickle-cell anemia, Tay Sach's disease, hemophilia, cystic fibrosis and others. What are some of the ethical issues being raised by the successful use of molecular genetic techniques and genetic screening of populations?

To examine advances in genomic medicine as well as ethical concerns, the New York Academy of Sciences' Genomic Medicine Discussion Group Section is sponsoring a meeting, Genetic Studies in Special Populations, on Wednesday, December 8 at Rockefeller University, Welch Hall in the Founder's Hall Building. Welch Hall can be reached through the E. 66th Street campus entrance. The meeting will run from 4 p.m. to 7 p.m.

The program features presentations by five top-notch researchers:

  • Harry Ostrer, Director of the Human Genetics Program at NYU Medical School

    Topic: "A Genetic Profile of Jewish Peoples."

    Genetic studies over the past half century have shed light on Jewish origins, the relatedness of Jewish communities, and the genetic basis of Mendelian disorders among Jewish peoples. Dr. Ostrer will discuss how these observations have been used to develop genetic testing programs and identify penetrance modifiers.

  • Erik Puffenberger, Clinic for Special Children Topic: "Molecular Genetics in Clinical Practice: Strategies for Disease Gene Identification, Characterization of Molecular Lesions, and Delivery of Efficient Diagnostic Testing in an Isolated Population."

    Dr. Puffenberg will discuss his work at the Clinic for Special Children, a non-profit pediatric diagnostic and research facility located in southeastern Pennsylvania. The clinic manages the care of children with a variety of metabolic and genetic disorders; eighty-five percent of the clinic patients are from the Plain sects (Amish and Mennonite). Over the past six years, the clinic has strived to utilize the explosion of molecular genetic information in the clinical setting. He will discuss how a new research program has been designed to identify molecular lesions in candidate genes, to develop genetic testing for rapid diagnosis and newborn screening, and to map and identify novel disease-related genes.

    Other speakers include: Kari Stefánsson, President, deCODE Genetics; Thomas Murray, The Hastings Center; and Jeffrey Friedman, Marilyn M. Simpson Professor at Rockefeller University

    Dr. Murray will conclude the symposium with some remarks on ethical considerations in genetic studies of disease. A reception will follow the presentations.

    The Genomic Medicine Discussion Group provides a forum for investigators in the New York area to examine topics related to genomics and genomic medicine in a highly interdisciplinary fashion across therapeutic areas.

    Source: Eurekalert & others

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