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 1000 in the general population.
Significant advances in the molecular biology of the fragile site,
including the sequencing of the FMR-1 gene within the last six months, are
dramatically changing methods of diagnosis, genetic counseling and our
understanding of the clinical spectrum of involvement from this disorder.
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. We are requesting funding for an international fragile X conference which
is focused on the two greatest areas of need: the advances in molecular
biology and treatment 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. These aims will be carried out in a four day conference in Snowmass,
Colorado. It will take place in June 1992 because the field is changing so
quickly that professionals cannot wait any longer for information to be
disseminated and new standards discussed and set regarding diagnosis and
Effective start/end date6/17/925/30/93


  • National Institutes of Health: $5,000.00


  • Medicine(all)


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