Lab Team

Led by Emory Department of Human Genetics faculty member Dr. Judith L. Fridovich-Keil, the Fridovich-Keil lab is a vibrant team working together for a common goal.

Galactosemia Research Study

Classic galactosemia is a rare genetic disorder that results from a deficiency of the enzyme galactose-1-P uridylyltransferase. Classic galactosemia is identified by newborn screening in about 80 babies born each year in the US. Thanks to early detection and rapid and life-long dietary restriction of galactose, which is the current standard of care, most babies with classic galactosemia are spared the potentially lethal acute consequences of the disease, but unfortunately, most grow to experience a constellation of developmental and other long-term complications. There is currently no intervention available that prevents or reverses these problems.  Our goal is to change that.

Who can Participate in this Research

We are currently recruiting interested volunteers with classic galactosemia, and their families, as participants for a non-invasive longitudinal study of Modifiers and Outcomes in Galactosemia (Emory IRB 00024933, PI: JL Fridovich-Keil). 

To learn more please email Judy.

Undergraduate Research Opportunities

Emory undergraduate students participate in our research in a variety of capacities including Honors Thesis research, Research for Credit, the Federal Work-Study Program, and volunteer positions.

To learn more please send an email to Judy.

Resources

Parents of Galactosemic Children (PGC)

Parents of Galactosemic Children, Inc is a non-profit charitable organization. Founded in February 1985 by a small group of mothers in New York, PGC realizes the need for further information and networking between affected families and professionals. Metabolic Clinics across the nation continue to assist PGC in researching families and information. Today our mailing list includes over 1000 families and extended families, professionals and clinics, media groups, donors, and numerous international contacts. Objectives and functions are achieved by unpaid volunteers.

 

Contact Us

Fridovich-Keil Laboratory

Emory University
Dept. of Human Genetics
Whitehead Biomedical Research Building

Room 325.2

615 Michael Street
Atlanta, GA 30322
404-727-2487

Principal Investigator

Dr. Judith L. Fridovich-Keil
Emory University
Department of Human Genetics
(Tel) 404-727-3924
(FAX) 404-727-3949
Email