POMPE
DISEASE: SEARCH FOR NEW THERAPEUTIC TARGETS
NATIONAL
INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES, BETHESDA, MD
The Laboratory of
Muscle Stem Cells and Gene Regulation (LMSCGR) at the NIAMS of the NIH has a
postdoctoral position available for an individual with a background in
molecular biology and cell culture methodology. Within the Lab, our group is
focused on translational research aimed at understanding the molecular and
biochemical mechanisms of skeletal muscle damage in Pompe disease, a rare and
fatal muscle disorder caused by a deficiency of the glycogen-degrading enzyme
acid alpha-glucosidase. The disease belongs to a large group of lysosomal
storage diseases. We are interested in the role of autophagy in the
pathogenesis of the disease with the goal to improve the currently available
enzyme replacement therapy. In addition, we are exploring the effect of a transcription
factor (TFEB) on lysosomal glycogen clearance in newly developed in vitro and
in vivo models of Pompe disease.
The fellow will use
previously generated Pompe mouse models with alterations in autophagic genes,
and will be responsible for the generation of novel transgenic models.
Applicants must have an M.D. or a Ph.D degree with expertise in molecular
biology and a previous track record of successful research. A good
command of English is required.
A wide variety of
state-of-the-art research facilities are available either within the laboratory
or elsewhere on the NIH campus.
To
apply, please submit your CV, bibliography, statement of research interests,
and the names of three references to:
Vittorio Sartorelli, M.D., Laboratory of
Muscle Stem Cell and Gene Regulation, NIAMS, NIH; 50 South Drive, Room 1351,
Bethesda, MD 20892; E-mail: sartorev@mail.nih.gov
Cc: Nina Raben, M.D., Ph.D. E-mail: rabenn@mail.nih.gov
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