Research in my laboratory seeks to discover the cause of disease in children with rare and previously undiagnosed genetic problems with their blood cells (hematopoietic system), including platelets, red and white blood cells that often present as immune defects or cancer. This new understanding will provide us with novel insights into the normal function of the hematopoietic system and help us better understand what's wrong with cancer cells leading eventually to new therapies.
A Germline Mutation in the C2 Domain of PLC¿2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases Journal of Clinical Immunology Taylor Novice and Amina Kariminia and Kate L. Del Bel and Henry Lu and Mehul Sharma and Chinten J. Lim and Jay Read and Mark Vander Lugt and Mark C. Hannibal and David O’Dwyer and Mirie Hosler and Thomas Scharnitz and Jason M Rizzo and Jennifer Zacur and John Priatel and Sayeh Abdossamadi and Alexandra Bohm and Anne Junker and Stuart E. Turvey and Kirk R. Schultz and Jacob Rozmus DOI: 10.1007/s10875-019-00731-3 2019
CD56brightnatural killer regulatory cells in filgrastim primed donor blood or marrow products regulate chronic graft-versus-host disease: The Canadian blood and marrow transplant group randomized 0601 study results Haematologica DOI: 10.3324/haematol.2017.170928 2017
XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination. IJspeert H and Rozmus J and Schwarz K and Warren RL and van Zessen D and Holt RA and Pico-Knijnenburg I and Simons E and Jerchel I and Wawer A and Lorenz M and Patiroglu T and Akar HH and Leite R and Verkaik NS and Stubbs AP and van Gent DC and van Dongen JJ and van der Burg M PubMed: 27281794 06/2016
Heterogeneity of chronic graft-versus-host disease biomarkers: association with CXCL10 and CXCR3+ NK cells. Kariminia A and Holtan SG and Ivison S and Rozmus J and Hebert MJ and Martin PJ and Lee SJ and Wolff D and Subrt P and Abdossamadi S and Sung S and Storek J and Levings M and Aljurf M and Arora M and Cutler C and Gallagher G and Kuruvilla J and Lipton J and Nevill TJ DOI: 10.1182/blood-2015-09-668251 PubMed: 27020088 06/2016
Exome Sequencing and the Management of Neurometabolic Disorders. Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drögemöller BI and Abdelsayed M and Alfadhel M and Armstrong L and Baumgartner MR and Burda P and Connolly MB and Cameron J and Demos M and Dewan T and Dionne J DOI: 10.1056/NEJMoa1515792 PubMed: 27276562 06/2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal development. van Karnebeek CD and Bonafé L and Wen XY and Tarailo-Graovac M and Balzano S and Royer-Bertrand B and Ashikov A and Garavelli L and Mammi I and Turolla L and Breen C and Donnai D and Cormier V and Heron D and Nishimura G and Uchikawa S and Campos-Xavier B and Rossi A and Hennet T and Brand-Arzamendi K DOI: 10.1038/ng.3578 PubMed: 27213289 05/2016
Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation. Rozmus J and McDonald R and Fung SY and Del Bel KL and Roden J and Senger C and Schultz KR and McKinnon ML and Davis J and Turvey SE DOI: 10.1016/j.clim.2016.04.011 PubMed: 27109639 04/2016
Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature Pediatric Transplantation DOI: 10.1111/petr.12764 2016
Functional hyposplenism after hematopoietic stem cell transplantation. Rozmus J and Mallhi K and Ke J and Schultz KR DOI: 10.1038/bmt.2015.160 PubMed: 26168071 10/2015
The genotypic and phenotypic spectrum of PIGA deficiency. Tarailo-Graovac M and Sinclair G and Stockler-Ipsiroglu S and Van Allen M and Rozmus J and Shyr C and Biancheri R and Oh T and Sayson B and Lafek M and Ross CJ and Robinson WP and Wasserman WW and Rossi A and van Karnebeek CD DOI: 10.1186/s13023-015-0243-8 PubMed: 25885527 2015
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. Turvey SE and Durandy A and Fischer A and Fung SY and Geha RS and Gewies A and Giese T and Greil J and Keller B and McKinnon ML and Neven B and Rozmus J and Ruland J and Snow AL and Stepensky P and Warnatz K DOI: 10.1016/j.jaci.2014.06.015 PubMed: 25087226 08/2014
Combined immunodeficiency associated with homozygous MALT1 mutations. McKinnon ML and Rozmus J and Fung SY and Hirschfeld AF and Del Bel KL and Thomas L and Marr N and Martin SD and Marwaha AK and Priatel JJ and Tan R and Senger C and Tsang A and Prendiville J and Junker AK and Seear M and Schultz KR and Sly LM and Holt RA and Patel MS DOI: 10.1016/j.jaci.2013.10.045 PubMed: 24332264 05/2014
Primary Immune Deficiency Treatment Consortium (PIDTC) report. Griffith LM and Cowan MJ and Notarangelo LD and Kohn DB and Puck JM and Pai SY and Ballard B and Bauer SC and Bleesing JJ and Boyle M and Brower A and Buckley RH and van der Burg M and Burroughs LM and Candotti F and Cant AJ and Chatila T and Cunningham-Rundles C and Dinauer MC and Dvorak CC DOI: 10.1016/j.jaci.2013.07.052 PubMed: 24139498 02/2014
Severe combined immunodeficiency (SCID) in Canadian children: a national surveillance study. Rozmus J and Junker A and Thibodeau ML and Grenier D and Turvey SE and Yacoub W and Embree J and Haddad E and Langley JM and Ramsingh RM and Singh VA and Long R and Schultz KR DOI: 10.1007/s10875-013-9952-8 PubMed: 24122030 11/2013
Multiple persistent ganglioneuromas likely arising from the spontaneous maturation of metastatic neuroblastoma. Rozmus J and Langer M and Murphy JJ and Dix D DOI: 10.1097/MPH.0b013e318221ca82 PubMed: 22052163 03/2012
Early and late extensive chronic graft-versus-host disease in children is characterized by different Th1/Th2 cytokine profiles: findings of the Children's Oncology Group Study ASCT0031. Rozmus J and Schultz KR and Wynne K and Kariminia A and Satyanarayana P and Krailo M and Grupp SA and Gilman AL and Goldman FD DOI: 10.1016/j.bbmt.2011.05.011 PubMed: 21669298 12/2011
3-year results of a collaborative school-based oral health program in a remote First Nations community. Macnab AJ and Rozmus J and Benton D and Gagnon FA PubMed: 18444770 2008
Diabetes screening of children in a remote First Nations community on the west coast of Canada: challenges and solutions. Rural and remote health 2007
Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorder. Braun BS and Tuveson DA and Kong N and Le DT and Kogan SC and Rozmus J and Le Beau MM and Jacks TE and Shannon KM DOI: 10.1073/pnas.0307203101 PubMed: 14699048 01/2004
Herpes simplex virus triggers and then disarms a host antiviral response. Mossman KL and Macgregor PF and Rozmus JJ and Goryachev AB and Edwards AM and Smiley JR DOI: 10.1128/JVI.75.2.750-758.2001 PubMed: 11134288 01/2001
Growth factors and cytokines upregulate gelatinase expression in bone marrow CD34(+) cells and their transmigration through reconstituted basement membrane. Janowska-Wieczorek A and Marquez LA and Nabholtz JM and Cabuhat ML and Montaño J and Chang H and Rozmus J and Russell JA and Edwards DR and Turner AR PubMed: 10233890 05/1999
current projects 3. Determining the mechanism of A-kinase anchor protein (AKAPs) dysfunction in undiagnosed familial thrombocytopenia syndromes
current projects 2. Understanding the molecular cause and pathophysiology of systemic capillary leak syndrome in children
Current project The role of sumoylation in immune cell function: Sumoylation is a post-translational modification involving the addition of SUMO (small ubiquitin-like modifiers) groups that regulate protein function. This modification plays an important role in a wide range of cellular processes including protein stability, nuclear-cytosolic transport, apoptosis and cell cycle progression. We have identifed a number of rare disease patients with defects in sumoylation pathways that present with abnormal immune cell function, defective hematopoiesis and blood cancers. Studying their defects has provided novel insights into how sumoylation regulates immunity and hematopoiesis.
Human DNA testing could improve outcomes for patients with COVID-19.
That’s the key idea put forth in preliminary research posted this month to bioRxiv that highlights the potential benefits of testing COVID-19 patients for genetic variants of ACE2—the protein identified as the point-of-entry for the SARS-COV-2 virus into human cells.
Congratulations to the BC Children's and BC Women's investigators who were awarded funding through the highly competitive Canadian Institutes of Health Research (CIHR) Project Grant Fall 2019 competition.
A new study suggests that specialized immune cells that dampen inflammation and help repair the gut could be used as a potential therapy for children dealing with the painful symptoms of inflammatory bowel disease.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.