Project: Research project

Project Details


The fragile X syndrome is the most common inherited form of mental
retardation known. It also causes learning disabilities in carrier
females and higher functioning males. It is relatively common, causing
mental retardation in approximately 1 per 1200 in the general population.
Significant advances in the molecular field including the utilization of
PCR technology, molecular clinical correlations, characterization of the
fine structure of the FMR-1 gene and protein function studies, are
dramatically changing methods of diagnosis, genetic counseling and our
understanding of the clinical spectrum of involvement from this disorder.
These issues will all be addressed at the Fourth International Fragile X
Conference, June 8-12, 1994 in Albuquerque, New Mexico. We are seeking
funding from NIH to support the travel and lodging of an international
faculty to present their latest research and to plan for future directions
in the field. The emergence of screening studies utilizing new molecular
technology has stimulated ethical debates which will be addressed in this
conference. In addition, as a larger number of patients are identified,
many professionals in schools, private practice, and in institutions who
are treating fragile X patients are in need of information regarding the
most optimal intervention possible. A view of the future will include a
discussion of protein replacement studies and gene therapy. We are also
seeking funding to allow young investigators to attend this conference and
present their research. In addition, a conference proceedings will be
published within 6 months of the conference and disseminated through the
national and international network of resource centers associated with the
National Fragile X Foundation. The International Fragile X Conference will focus on three areas of
interest: the advances in molecular biology, treatment issues, and
screening studies which include ethical issues. Expert speakers will be
brought in from international centers and across the United States to 1)
educate parents and professionals about recent advances, 2) provide a
forum to standardize diagnosis, evaluation and counseling techniques, and
3) stimulate further research and international collaboration.
Effective start/end date6/6/946/5/95


  • National Institutes of Health


  • Medicine(all)


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