Judith Fridovich-Keil PhD
- Department of Human Genetics
Professor
- (404) 727-3924
- jfridov@emory.edu
- Google Scholar
- Lab website
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615 Michael Street
Suite 345
Atlanta, GA 30322
Overview
Roles of galactose metabolism in normal development and disease; interplay between genetic and environmental modifiers of birth outcomes.
The majority of our research addresses galactose metabolism and the role(s) galactose metabolites play in normal development and disease. Specifically, we are working to understand the mechanisms that underlie acute disease and long-term complications in the inherited galactosemias using a combination of human subjects studies and genetic model systems. We are also applying our model systems in translational work developing and testing novel strategies for improved intervention in classic galactosemia. In a separate line of research, we apply untargeted metabolomics to explore the interplay between genetic and environmental modifiers of birth outcomes.
Academic Appointment
- Professor (Secondary Appt), Department of Biochemistry, Emory University School of Medicine
- Professor (with tenure), Department of Human Genetics, Emory University School of Medicine
Education
Degrees
- A.B. from Princeton University
- PhD from Massachusetts Institute of Technology
Research
Focus
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Galactose metabolism
The focus of our research is galactose metabolism and the role(s) galactose metabolites play in normal development and disease. Our approaches include both large human subjects studies and work with fruit fly and rat genetic model systems. We also apply untargeted metabolomics to explore the interplay between genetic and environmental modifiers of birth outcomes.
Publications
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Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null.
JIMD Rep Volume: 66 Page(s): e70016
05/01/2025 Authors: Simpson K; MacLeod EL; Clayton J; Yazigi NA; Rubio-Gozalbo ME; Fridovich-Keil JL; Berry GT; Ah Mew N -
Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.
J Inherit Metab Dis Volume: 48 Page(s): e70020
05/01/2025 Authors: Smith NH; Garrett OS; Hendrickson E; Druss JJ; Fridovich-Keil JL -
Health and well-being of maturing adults with classic galactosemia.
J Inherit Metab Dis Volume: 48 Page(s): e12786
01/01/2025 Authors: Garrett OS; Druss JJ; Vos EN; Fu Y-TD; Lucia S; Greenstein PE; Bauer A; Sykut-Cegielska J; Stepien KM; Arbuckle C -
Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia.
J Inherit Metab Dis Volume: 47 Page(s): 991 - 1000
09/01/2024 Authors: Daenzer JMI; Druss JJ; Fridovich-Keil JL -
Intrathecal Vector Delivery in Juvenile Rats via Lumbar Cistern Injection.
J Vis Exp
03/29/2024 Authors: Donsante A; Rasmussen SA; Fridovich-Keil JL -
Long-term complications in classic galactosemia are not progressive.
Mol Genet Metab Volume: 140 Page(s): 107708
11/01/2023 Authors: Smith NH; Hendrickson ET; Garrett OS; Chernoff RA; Orloff DH; Druss JJ; Stettner NM; Paull NH; Fridovich-Keil JL -
Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.
J Inherit Metab Dis Volume: 46 Page(s): 1131 - 1138
11/01/2023 Authors: Druss JJ; Rudd Zhong Manis J; Potter NL; Fridovich-Keil JL -
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
Mol Genet Metab Volume: 138 Page(s): 107542
04/01/2023 Authors: Stettner NM; Cutler DJ; Fridovich-Keil JL -
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C>T) variant of GALT.
J Inherit Metab Dis Volume: 45 Page(s): 1106 - 1117
11/01/2022 Authors: Katler QS; Stepien KM; Paull N; Patel S; Adams M; Balci MC; Berry GT; Bosch AM; DeLaO A; Demirbas D -
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.
J Inherit Metab Dis Volume: 45 Page(s): 203 - 214
03/01/2022 Authors: Daenzer JMI; Rasmussen SA; Patel S; McKenna J; Fridovich-Keil JL