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Molecular & Cellular Etiology of Rare Diseases (Basic and Translational)

Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD and surrounding area

Position Description:

A postdoctoral position is available in the Section on Molecular Dysmorphology of Dr. Forbes Porter at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH.  This research group studies basic, translational and clinical aspects of genetic disorders that impair cholesterol homeostasis.   This Section primarily works on Smith-Lemli-Opitz syndrome (SLOS), Niemann-Pick Disease type C (NPC) and Battens Disease (NCL3).  SLOS is a malformation/cognitive impairment syndrome due to an inborn error of cholesterol synthesis and both NPC and NCL3 are neurodegenerative lysosomal storage disorders.    This Section integrates basic biological studies with clinical research in order to develop and test potential therapies.     
We are seeking a highly motivated individual who would like to lead and collaborate on projects seeking to understand the pathological processes contributing to SLOS, NPC, and NCL3 phenotypes and is interested in developing potential therapeutic interventions.   The laboratory utilizes multiple techniques such as molecular and cellular biology, bioinformatics, proteomics, biochemistry, microscopy, and mass spectrometry.  Model systems include in vitro experiments with both primary and iPS cells as well as in vivo experiments with mice and zebrafish. Availability and access to multiple core facilities on-site, allows investigators to engage in current and emerging technologies to aid in research goals.


The ideal candidate will have a PhD in genetics, proteomics, neurobiology, cell biology, experience working with mice, or a related field.  Individuals with an MD and research experience will be considered.   Candidates must be within five years of graduation.  The individual should be strongly motivated and be willing to work both independently and collaboratively as a member of an active research group.


To Apply:

Qualified individuals should submit a copy of their curriculum vitae and a one page summary of their research and career goals to
Please include names of three references and please request that they submit letters of reference.  
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