Who's Who in
Medicine Academia

Dwight D. Koeberl

Academic Title: Professor

Name: Dwight D. Koeberl

 

Department: Division of Medical Genetics

Department Website: http://www.duke.edu/%7Emdfeezor/dukemedicalgenetics/

Institution: Duke University

 

Address: Post Office Box 3528
Durham, North Carolina 27710

 

Highest Degree:

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E-mail: Contact by e-mail?

 

Expertise: The focus of our research has been the development of new therapy for inherited disorders of metabolism, especially glycogen storage disease (GSD) and phenylketonuria (PKU). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body: glucose-6-phosphatase (G6Pase) in GSD type Ia and acid -glucosidase (GAA) in GSD type II (Pompe disease).
1) GSD type Ia: G6Pase-knockout mice provided a model for the biochemical abnormalities of GSD type Ia, although early mortality complicates research with both the murine and canine models of GSD type Ia.
2) GSD type II/Pompe disease: Pompe disease is characterized by the massive accumulation of lysosomal glycogen in striated muscle with an accompanying disruption of cellular functions.
3) PKU: We demonstrated long-term biochemical correction of PKU in mice with an AAV2 vector.

 

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