Grant for Galactosemia Research

A proposal for a grant from the NIH to fund a study of galactosemia has been resubmitted with revisions. The revised proposal is to be reviewed in September 2000.

Dr. Nancy Leslie, the Head of Metabolic Services and Assistant Professor in the Human Genetics Division at Children's Hospital Medical Center of Cincinnati, will be part of the study team. She recently assured PGC that we will be informed if the effort is funded.

Dr.Leslie presented an overview of the proposed study at the PGC conference in Columbus, OH in October 1999. The proposal includes two components.

  • The cross-sectional study component will gather 'one-time' data on galactosemic patients being treated in a number of clinics in the U.S. and Europe. This study will provide uniformity of data on a variety of topics such as diet, speech, eyesight, neurological difficulties, and metabolism. It is hoped that the results of this study will lead to a better understanding of the lives of galactosemia patients and more uniform recommendations for clinical treatment.
  • The prospective component of the study will be limited to newly diagnosed babies, following them through the first three years of life.