Medical Student Research Fellowship for Summer 2008

Mentor: Sandra L Hofmann
Department: Internal Medicine/Hamon Center for Therapeutic Oncology Research
Room number: NB8.104A
Mail Code:8593
Phone number:214-648-4911
E-mail:Sandra.Hofmann@utsouthwestern.edu
Project title: Enzyme replacement therapy for infantile Batten Disease

Human subjects IRB approved project number (where applicable):N/A

Animal subjects IRB approved project number (where applicable):N/A

Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects): Basic

Brief Description of Project:

Infantile Batten disease is a neurodegenerative disorder caused by deficiency in the lysosomal enzyme palmitoyl-protein thioesterase. Although deficiencies in lysosomal enzymes may be improved by providing the missing enzyme (made through recombinant DNA technology), enzyme delivery to the brain parenchyma has been problematic. It has been suggested that certain receptors may mediate the uptake of proteins across the blood brain barrier. The overall goals of the project are to construct and test recombinant proteins for their ability to potentially cross the blood brain barrier and ameliorate infantile Batten Disease. The proposed project will use in vitro models in pursuit of this goal.

Previous Research Activities or Publications with Medical Students: