David H.K. Chui, MD, FRCPC
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PI: David H.K. Chui, MD, FRCPC
Title: Professor of Medicine, Pathology & Laboratory Medicine |
Research Overview:
Throughout his academic career, Dr. Chui has maintained a keen interest in the developmental biology of erythropoiesis in health and disease. In the 70′s, he studied the developmental cell biology and pathophysiology of anemic mutant mice, particularly that of the Steel mutation, now known to be caused by aberrant Steel factor, or stem cell factor. During the 80′s, Dr. Chui concentrated on the study of hemoglobin ontogeny in mice and in man. He discovered that human embryonic hemoglobins persist throughout intrauterine life, and even into adulthood in some hereditary disorders.
In the 90′s, Dr. Chui applied molecular biology techniques to study human diseases. He was the Founding Director of the Provincial Hemoglobinopathy DNA Diagnostic Laboratory in Ontario, Canada, and contributed to the study of thalassemias and hemoglobinopathies, including a novel diagnostic strategy applicable for population screening to detect α-thalassemia carriers. His laboratory cloned and characterized three then novel genes found in erythroid cells: Nrf 2, Hn1, and Ermap.
Since joining the Boston University in 2003, Dr. Chui has established another successful Hemoglobin Diagnostic Reference Laboratory, to which patients’ samples have been referred from throughout Massachusetts, the United States, and beyond. It is a repository for unusual or novel globin gene mutations, some of which form the basis for further laboratory research. Dr. Chui continues to pursue issues related to thalassemia and population health. Concurrently, Dr. Chui is engaged in a large genetic association research project using SNP genotyping in β-thalassemia patients and their family members to search for hereditary factors that regulate Hb F production.
Selected Recent Publications:
Dr. Chui has over 150 publications, and has successfully collaborated with investigators in the United States, Canada, and abroad.
1. Chiu RWK, Lau TK, Leung TN, Chow KYK, Chui DHK, Lo YMD. Prenatal exclusion of β thalassaemia major by examination of maternal plasma. Lancet. 360: 998-1000, 2002.
2. Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 101: 791-800, 2003.
3. Ding C, Chiu RWK, Lau TK, Leung TN, Chan LC, Chan AYY, Charoenkwan P, Ng ISL, Law H-Y, Ma ESK, Xu X, Wanapirak C, Sanguansermsri T, Liao C, Ai MATJ, Chui DHK, Cantor CR, Lo YMD. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA. 101: 10762-10767, 2004.
4. Lau ET, Kwok YK, Luo HY, Leung KY, Lee CP, Lam YH, Chui DHK, Tang MHY. Simple non-invasive prenatal detection of Hb Bart’s disease by analysis of fetal erythrocytes in maternal blood. Prenat Diagn. 25: 123-128, 2005.
5. Law H-Y, Luo H-Y, Wang W, Ho JFV, Najmabadi H, Ng ISL, Steinberg MH, Chui, DHK, Chong SS. Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events? Haematologica. 91: 297-302, 2006.
6. Andersson BAR*, Wering MEL*, Luo H-Y, Basran RK*, Steinberg, MH, Smith HP, Chui DHK. Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7 Kb β-globin gene deletion. Eur J Haematol. 78: 82-85, 2007.
7. Gibney GT*, Panhuysen CIM, So JCC, Ma ESK, Ha SY, Li CK, Lee ACW, Li CK, Yuen HL, Lau YL, Johnson DM, Farrell JJ, Bisbee AB, Farrer LA, Steinberg MH, Chan LC, Chui DHK. Variation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kong. Am J Hematol. 83: 458-464, 2008.
8. Chen ZY, Luo H-Y, Basran RK*, Hsu T-H*, Mang DWH*, Nuntakarn L*, Rosenfield CG, Patrinos GP, Hardison RC, Steinberg MH, Chui DHK. A T>G transversion at NT -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated HbF. Mol Cell Biol. 28: 4386-4393, 2008.
9. Sedgewick AE, Timofeev N, Sebastiani P, So JCC, Ma ESK, Chan LC, Fucharoen G, Fucharoen S, Barbosa CG, Vardarajan BN, Farrer LA, Baldwin CT, Steinberg MH, Chui DHK. BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies. Blood Cells Mol Dis. 41: 255-258, 2008.
10. Chui DHK, Steinberg MH. Laboratory diagnosis of hemoglobinopathies and thalassemias. In: Hematology: Basic Principles and Practice, 5th edition. Hoffman R, Benz Jr EJ, Shattil SJ, Furie B, Silberstein LE, McGlave P, Heslop HE. (eds.) Elsevier, Philadelphia, pp. 525-533, 2009.
11. Wilcox I*, Boettger K*, Greene L*, Malek A, Davis L, Steinberg MH, Luo H-Y, Chui DHK. Hemoglobin Kenya composed of α- and (Aγβ)-fusion-globin chains, associated with hereditary persistence of fetal hemoglobin. Am J Hematol. 84: 55-58, 2009.
12. Chen ZY, Luo H-Y, Steinberg MH, Chui DHK. BCL11A represses HBG transcription in K562 cells. Blood Cells Mol Dis. 42: 144-149, 2009.
* Graduate student, post-doctoral fellow, or medical resident in Dr. Chui’s laboratory.
