A postdoctoral position is available in the laboratory of Dr. Karen Usdin to study the causes and consequences of the unusual repeat expansion mutation responsible for diseases like Fragile X syndrome, the most common monogenic cause of intellectual disability and autism; Glutaminase Deficiency Disorder, a recently described human genetic condition associated with developmental delay and early onset progressive ataxia and Friedreich ataxia, another early onset ataxia. We expect that gaining a deeper understanding of the molecular mechanisms responsible for these diseases will allow us to identify good targets for therapeutic intervention. We use a combination of genetics, biochemistry, molecular biology and patient-derived stem cells to:

　　·         understand the mechanism of repeat expansion and identify small molecules that reduce the expansion frequency

　　·         decipher the mechanism of repeat-mediated epigenetic silencing responsible for Fragile X syndrome, Friedreich ataxia and Glutaminase Deficiency Disorder

　　·         identify and characterize novel Repeat Expansion Diseases

　　·         uncover the molecular basis of the ovarian dysfunction seen in individuals with Fragile X-associated primary ovarian insufficiency.

　　·         develop better diagnostic tools and identify biomarkers for these diseases

　　Additional information be found at https://www.niddk.nih.gov/about-niddk/staff-directory/biography/usdin-karen.

　　Candidates must hold a doctoral degree (PhD, MD, or the equivalent) in molecular biology, genetics, biochemistry, cell biology or a related field and should have less than 5 years of post-doctoral experience. Those with experience in ovarian biology, neurobiology, stem cell work or epigenetics are particularly encouraged to apply. Positions at the NIH are subject to a background investigation.  To apply, interested individuals should email their CV, a cover letter summarizing current and future research interests, and contact information for three references to:

　　Dr. Karen Usdin

　　Gene Structure and Disease Section,

　　Laboratory of Cell and Molecular Biology, NIDDK

　　Email: karenu@nih.gov

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