Research Scientist, Children’s Hospital Research Institute of Manitoba
Distinguished Professor, Department of Pediatrics and Child Health
Distinguished Professor, Department of Biochemistry and Medical Genetics
As an academic clinician, Dr. Rockman-Greenberg has focused her research on the identification of the molecular and metabolic causes for specific genetic disorders that are over-represented in Manitoba’s unique populations with the subsequent development, in direct collaboration with the communities of interest, of diagnostic or newborn screening programs relevant to patient care.
Much of her research has involved newborn screening. Newborn screening allows for pre-symptomatic detection of metabolic genetic disorders that are amenable to effective treatment, if detected before symptoms appear. These disorders have been the focus of the Metabolic Disorders Research Team, of which she is a part of.
The Metabolic Disorders Research Team embraces the concept of Knowledge Translation – taking an area in metabolic genetics of major health importance to Manitoba, developing the hypothesis and research question, performing the research and recommending changes in care to patients based on research findings. Examples of such research projects include DNA-based newborn screening for CPT1 deficiency in the Hutterites and Inuit and DNA-based newborn screening for glutaric acidemia type 1 (GA1) among the Oji Cree. These projects evolved with community partnership and support, always going back to the leaders of the respective communities to present our research findings and to ensure the patient is always at the centre of health care recommendations. Universal newborn screening using tandem mass spectrometry was introduced in 2012 in Manitoba and since then DNA-based newborn screening for CPT1 deficiency among the Hutterites and GA1 screening among the Oji-Cree continues has now evolved to now second tier confirmatory DNA-based tests.
Dr. Rockman-Greenberg has also been a co-investigator in gene discovery initiatives as a member of the Centre for the Investigation of Genetic Disorders with Drs. Klaus Wrogemann, Teresa Zelinski and Barb Triggs-Raine. Best examples are cloning of 2 genes associated with Limb Girdle Muscular Dystrophy (LGMD2H and 2I) in the Hutterites, cloning of the Bowen-Conradi gene in the Hutterites, mapping of the gene causing hypophosphatasia (HPP) among the Mennonites and identifying the molecular basis for HPP i.e. identifying the mutations distinguishing the infantile from the juvenile and adult forms of HPP.
More recently the Metabolic Disorders Research Team has been involved in clinical trials of Enzyme Replacement Therapy (ERT) for Hypophosphatasia and Fabry disease. These ERT clinical trials are multicenter, multinational and may be industry- sponsored. Dr. Rockman-Greenberg’s aim is to partner with multiple stakeholders and participate in provincial and national strategies to develop innovative and transparent programs for approval, equal access and reimbursement of new drugs for rare and ultra-rare hereditary metabolic disorders.
The discovery of genes causing rare diseases has led to new diagnostic tests. Dr. Rockman-Greenberg – together with her colleagues Dr. Beth Spriggs and Dr. Barbara Triggs-Raine, as well as research funds from Diagnostic Services Manitoba, and colleagues from other centers – spearheaded the development of a Custom-designed “Hutterite CHIP” to simultaneously test for 32 mutations in 31 genes. The CHIP is now offered for carrier testing to the Hutterite population here in Manitoba and in other areas where Hutterites live on the Prairies.
1984/9 - 1986/6
Master's Equivalent, MRC Fellowship - Fellow, Human Genetics, University of Manitoba
1974/7 – 1978/7
Doctorate Equivalent, Residency - M.D., Pediatrics, Biochemical and Medical Genetics, Montreal Children's Hospital
1970/9 - 1974/6
Doctorate, Doctor of Medicine and Surgery - M.D., Medicine, McGill University
1967/9 - 1971/5
Bachelor's, Bachelor of Science, Genetics, McGill University
Experiences of Caregivers of Children with Inherited Metabolic Diseases: A Qualitative Study.
Shabnaz Siddiq; Brenda J Wilson; Ian D Graham; Monica Lamoureux; Sara D Khangura; Kylie Tingley; Laure Tessier; Pranesh Chakraborty; Doug Coyle; Sarah Dyack; Jane Gillis; Cheryl Greenberg; Robin Hayeems; Shailly Jain-Ghai; Jonathan B Kronick; Anne-Marie Laberge; Julian Little; John J Mitchell; Chitra Prasad; Komudi Siriwardena; Rebecca Sparkes; Kathy N Speechley; Sylvia Stockler; Yannis Trakadis; Sarah Wafa; Jagdeep Walia; Kumanan Wilson; Nataliya Yuskiv; Beth K Potter, Ph.D.
Orphanet Journal of Rare Diseases. Co-Author, Submitted
Type A Aortic Dissection, Apparent Mineralocorticoid Excess syndrome and syndromic aortic root dilatation.
Richard M, Shah P, Katz P, Love K, Semaniuk N, Menkis A, Rockman-Greenberg C.
Endocrine Practice Co-Author, In Press
Proposed recommendations for the diagnosis and management of individuals with glutaric aciduria type I - second revision.
Boy N, MühlhausenC, Maier E, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller D, Krawinkel M, Okun J, Opladen T, Posset R, Sahm K, Ballhausen D, Burlina A, Fingerhut R, Koletzko B, García-Cazorla A, Lindner M, vom Dahl S, Scholl-Bürgi S, Zschocke J, Kölker S.
JIMD Co-Author, In Press
Asfotase alfa therapy for children with hypophosphatasia.
Whyte M, Madson K, Phillips D, Reeves A, McAlister W, Yakimoski A, Hamilton K, Fujita K, Thompson D, Moseley S, Odrljin T, Greenberg CR.
JCI Insight, 2016; 1 (9). Co-Author, Published
Efficacy and Safety of Deflazacort Versus Prednisone and Placebo for Duchenne Muscular Dystrophy: Results from a Randomized-Controlled Trial.
Griggs R, Meyer J, Greenberg CR, Fehlings D, Pestronk A, Mendell J, Moxley R, King W, Kissel J, Cwik V, Florence J, Pandya S, Dubow J.
Neurology. Co-Author, Published, e-pub ahead of print
Mennonites, Hypophosphatasia and Severe Combined Immunodeficiency Disease: The Story of Two Genetic Disorders.
Rockman-Greenberg C, Schrodeder M.
Journal of Mennonite Studies, Vol 34. Primary Author, Published
A severe case of Menkes: an infant’s presentation with intraventricular hemorrhage.
Szelemej PA, Stevic I, Del Bigio M, Mhanni A, Hartley J, Greenberg C, Frosk P, Seargeant L.
Canadian Journal of Neurological Sciences 2016 June Suppl 2-S49. Co-Author, Published
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.
Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A, Thompson D, Bishop N, Hofmann C.
J Clin Endocrinol Metab. 2016, 101(1): 334-342. Co-Author, Published
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper M, Chakraborty P, Coyle D, Wilson K, Kronick JB, Hawken S, Davies C, Brownell M, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Laberge AM, Mhanni A, Miller FA, Mitchell JJ, Nakhla M, Prasad C, Sparkes R, Rockman-Greenberg C, Wilson BJ, Potter BK.
Orphanet Journal of Rare Diseases. Orphanet J Rare Dis. 2016 Feb 3;11(1):12 Co-Author, Published
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.
Gatheridge MA, Kwon JM, Mendell JR, Scheuerbrandt G, Moat SJ, Eyskens F, Greenberg CR, Drousiotou A, Griggs RC.
JAMA Neurol. 2016 Jan 1;73(1):111-6. Co-Author, Published
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B, Dyck T, Boycott K, Micheil Innes A, Ober C, Parboosingh J, Williams A, Rockman-Greenberg C, Spriggs E.
Mol Genet Genomic Med. 2016 Jan 19;4(3):312-21. Co-Author, Published
Recipient of Health Research Foundation Medal of Honor
Awarded Distinguished Professor designation, University of Manitoba
Partners in Research National Award 2015: Biomedical Science Ambassador Award
Inducted into the Canadian Academy of Health Sciences, Ottawa, ON
Dr. John M. Bowman Memorial Winnipeg Rh Institute Foundation Award
Dr. John M. Bowman Memorial Winnipeg
Rh Institute Foundation
CORD “Rarity” Award
Canadian Organization for Rare Disorders
Canada’s Most Powerful Women Top 100
Women’s Executive Network (WXN)
Henning Andersen Prize for Best Clinical Abstract at 2010 ESPR Meeting
European Society for Paediatric Endocrinology Program Organizing Committee
Community Service Award Huntington Society of Canada Distinction
Physician of the Year - Scholastic Category, Doctors Manitoba
Distinction in Clinical and Biochemical Genetics
2002/1 - 2002/1
Research Award for Visiting Professor
DAAD, Heidelberg, Germany
Distinction Metabolic Genetics
1984/7 - 1986/7
Fellow in Molecular Genetics
Medical Research Council of Canada
Distinction in Molecular Genetics
MD, CM, FRCPC, FCCMG
John Buhler Research Centre
715 McDermot Ave, Rm 546
Winnipeg, MB R3E 3P4