DF/HCC Program Affiliation

Translational Pharmacology and Early Therapeutic Trials

Research Abstract

Dr. Neufeld studies genetic blood disorders, and pediatric cholesterol and lipid disorders.

His laboratory work focuses on candidate genes for genetic blood disorders and the transport of vitamin B1 (thiamine) into cells. A rare human disease, thiamine-responsive anemia with diabetes and deafness syndrome, has been shown to be caused by defect in thiamine transporter gene SLC19A2 by Neufeld and colleagues.

Clinical research interests include ITP (an immune disorder which causes destruction of blood platelets), thalassemia, and genetic disorders of blood clotting, including hemophilia and thrombotic disorders.

Publications

• Bennett CM, de Jong JL, Neufeld EJ.Targeted ITP strategies: do they elucidate the biology of ITP and related disorders?.Pediatr Blood Cancer 2006 Oct 15;47(5 Suppl):706-9.
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• Kearney SL, Nemeth E, Neufeld EJ, Thapa D, Ganz T, Weinstein DA, Cunningham MJ.Urinary hepcidin in congenital chronic anemias.Pediatr Blood Cancer 2007 Jan;48(1):57-63.
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• Cunningham MJ, Macklin EA, Neufeld EJ, Cohen AR,.Complications of beta-thalassemia major in North America.Blood 2004 Jul 1;104(1):34-9.
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• Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BT, Geva A, Neufeld EJ.Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr).Blood 2004 Mar 15;1
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• Fleming JC, Tartaglini E, Kawatsuji R, Yao D, Fujiwara Y, Bednarski JJ, Fleming MD, Neufeld EJ.Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.Mol Genet Metab 2003 Sep-Oct;80(1-2):234-41.
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• Boros LG, Steinkamp MP, Fleming JC, Lee WN, Cascante M, Neufeld EJ.Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA).Blood 2003 Nov 15;102(10):3556-61.
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• Steinkamp M, Geva A, Joffe S, Lapp CN, Neufeld EJ.Chronic disseminated intravascular coagulation and childhood-onset skin necrosis resulting from homozygosity for a protein C Gla domain mutation, Arg15Trp.J Pediatr Hematol Oncol 2002 Nov;24(8):685-8.
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