Genetic Medicine Research Group focuses on research in the areas of human medical genetics by applying advanced molecular and cellular techniques to discover and understand the role of genetic components that are responsible in disease development, progression and deterioration. The group consists of 6 principal investigators with approximately 20 active research personnel. The group works closely with clinicians to screen for genetic variants and their association with disease prevalence, progression and treatment outcomes. The long-term objective of the group is to be able to improve existing molecular diagnoses and treatment modalities for patients suffering from genetic disorders. The group currently embarks in studies related to gene therapy, neurodevelopment, Down syndrome, thalassemia and genetics of breast as well as bladder cancers.
- *Debrincat MA, *Josefsson EC, *James C, Henley KJ, Ellis S, Lebois M, Betterman KL, Lane RM, Rogers KL, White MJ, Roberts AW, Harvey NL, Metcalf D, Kile BT. Mcl-1 and Bcl-xL co-ordinately regulate megakaryocyte survival. Blood. 2012 119(24):5850-8 PMID: 22374700. *Joint First Authors
- *Jansen AJ, *Josefsson EC, Rumjantseva V, Liu QP, Falet H, Bergmeier W, Cifuni SM, Sackstein R, von Andrian UH, Wagner DD, Hartwig JH, Hoffmeister KM. Desialylation accelerates platelet clearance after refrigeration and initiates GPIbα metalloproteinase-mediated cleavage in mice. Blood. 2012 119(5):1263-73. PMID: 22101895. *Joint First Authors
- Josefsson EC, White MJ, Dowling MR, Kile BT. Platelet life span and apoptosis. Methods Mol Biol. 2012 788:59-71. PMID: 22130700.
- Josefsson EC, James C, Henley KJ, Debrincat MA, Rogers KL, Dowling MR, White MJ, Kruse EA, Lane RM, Ellis S, Nurden P, Mason KD, O’Reilly LA, Roberts AW, Metcalf D, Huang DC, Kile BT. Megakaryocytes possess a functional intrinsic apoptosis pathway that must be restrained to survive and produce platelets. J Exp Med. 2011 208(10):2017-31. PMID: 21911424
- *Dowling MR, *Josefsson EC, Henley KJ, Hodgkin PD, Kile BT. Platelet senescence is regulated by an internal timer, not damage inflicted by hits. Blood. 2010 116(10):1776-8. PMID: 20530288. *Joint First Authors
- Rumjantseva V, Grewal PK, Wandall HH, Josefsson EC, Sørensen AL, Larson G, Marth JD, Hartwig JH, Hoffmeister KM. Dual roles for hepatic lectin receptors in the clearance of chilled platelets. Nat Med. 2009 15(11):1273-80. PMID: 19783995.
- Schoenwaelder SM, Yuan Y, Josefsson EC, White MJ, Yao Y, Mason KD, O’Reilly LA, Henley KJ, Ono A, Hsiao S, Willcox A, Roberts AW, Huang DC, Salem HH, Kile BT, Jackson SP. Two distinct pathways regulate platelet phosphatidylserine exposure and procoagulant function. Blood. 2009 114(3):663-6. PMID: 19387006.
Michael KH Ling
Current Lab Members