John Mitchell, M.D.

Faculty Profiles

Biochemical genetics

My current research interests revolve around population screening, phenylketonuria and lysosomal storage disorders.  In recent years I have focused on treatment of these metabolic diseases.  I am working on a number of industry sponsored clinical trials examining efficacy of chaperone therapy for PKU and enzyme replacement therapy for Morquio syndrome.  In addition, I am working in collaboration with the Shriner’s hospital to examine bone health in Morquio syndrome.

Selected Publications:

  1. Longitudinal Observations of Serum Heparin Cofactor II-Thrombin Complex in Treated Mucopolysaccharidoses I and II patients., Clarke LA, Hemmelgarn H,  Colobong K , Thomas A, Stockler S, Casey R,  Chan A,  Fernoff P, Mitchell J Longitudinal Observations of Serum Heparin Cofactor II-Thrombin Complex in Treated Mucopolysaccharidosis I and II Patients, Submitted for publication,  Journal of Inherited Metabolic Disease
  2. Mitchell J. In This Issue:  “Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases”, Human Mutation, 31(11), v, 2010.
  3. Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, Miyatsuka T, Mitchell J, Seerke R, Desir J, Eijnden SV, Abramowicz M, Kacet N, Weill J, Renard ME, Gentile M, Hansen I, Dewar K, Hattersley AT, Wang R, Wilson ME, Johnson JD, Polychronakos C, German MS: Rfx6 directs islet formation and insulin production in mice and humans. Nature 463(7282):775-80, 2010.
  4. Campeau P, Scriver C R, Mitchell JJ,  A 25 Year Longitudinal Analysis of Treatment Efficacy in Inborn Errors of Metabolism, Molecular Genetics and Metabolism, 95 (1-2): 11-6, 2008.
  5. Mitchell JJ, Wilcken B, Alexander I, Ellaway C, O’Grady H, Wiley V, Earl J & Christodoulou J Tetrahydrobiopterin Responsive Phenylketonuria: The New South Wales Experience, Molecular Genetics and Metabolism, 86 (1): 81-85, 2005.

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