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The Causes and Consequences of the Unusual Mutation that Causes The Repeat Expansion Diseases.

National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD and surrounding area

Position Description:

A postdoctoral position is available immediately in Dr Karen Usdin’s laboratory (NIDDK, NIH, Bethesda, Maryland) to study the Repeat Expansion Diseases, a group of 45+ human genetic disorders that likely share a similar unusual mutational mechanism and are generally life-limiting and without effective treatments. Not only is the mutation that causes these diseases unusual, but the expansion mutation causes pathology in a variety of unusual ways. The Usdin group uses a combination of biochemical and biophysical approaches along with mouse models, stem cells, patient samples and various bioinformatic tools to better understand the expansion process and some of its consequences primarily in the Fragile X-related disorders, Huntington’s Disease, Friedreich’s ataxia and Glutaminase Deficiency Disorder.

Projects are available to:

  • study the mechanism of repeat expansion and the promutagenic role of mismatch repair in this process
  • develop better diagnostic tools for existing and new Repeat Expansion Diseases.
  • study the epigenetic effects of repeat expansion, including the gene silencing that is seen in many of these diseases
  • explore possible therapeutic approaches to blocking repeat expansion and repeat-mediated gene silencing
  • examine the nexus between repeat expansion, chromosome fragility and chromosomal integrity.

More information about the Usdin group can be found here.


  • The position is open immediately and applications will be accepted until the position is filled.
  • Applicants must possess an advanced degree (M.D. and/or Ph.D.) in a relevant field.
  • A background in molecular biology is a prerequisite and experience in mouse and stem cell models and/or protein purification would be an asset.

The Usdin lab is part of the NIH Intramural Research Program on the Bethesda campus (Maryland/ DC Metro area) that offers state-of-the-art research facilities, career development programs, and encourages diversity in STEM.

To Apply:

Please send your CV, a brief statement of research interests and the names/contact details of 3 references by email to:

The NIH is dedicated to building a diverse community in its training and employment programs and encourages the application and nomination of qualified women, minorities, and individuals with disabilities.