PubMed search for Dr. Judith Fridovich-Keil

Areas of Specialization/Research Interests:
Structure/function relationships and interactions of the galactose-1-P uridylyltransferase (GALT) and UDP galactose-4'-epimerase (GALE) enzymes impaired in patients with galactosemia, using appropriate yeast and mammalian cell model systems
Investigation into the nature and mechanism of galatose-sensitivity in yeast and human cells with impaired GALT or GALE activity
Investigation of the normal function(s) of Scp160p, a multiple KH domain RNA-binding protein in yeast.

Education:
1988  Ph.D., Massachusetts Institute of Technology
1983  AB in Biochemistry (Summa Cum Laude), Princeton University
1989-91 Training Fellow in Clinical Molecular Genetics, Harvard Medical School
1988-91 Postdoctoral Research Fellow in Cell Growth and Regulation, Harvard Medical School and Dana-Farber Cancer Institute

Board Certifications:
1996   Diplomate Clinical Molecular Genetics, American Board of Medical Genetics

Research Description:
Roles of galactose and galactose metabolism in normal development, homeostasis, and disease. Galactose and its derivatives serve as essential components of glycoproteins and glycolipids in humans and other species. As a component of milk, galactose also serves as a key energy source for mammals, especially infants. Impaired metabolism of galactose leads to the potentially lethal disease classic galactosemia. We are applying a combination of basic and clinical approaches using patients, mammalian cells, flies, and microbial systems to explore the underlying bases of pathophysiology in galactosemia, and to define the roles of galactose and galactose metabolism in normal development and homeostasis. We are further working to develop novel and improved forms of intervention for patients with galactosemia.