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Dr. Cheryl Rockman-Greenberg is the Director of the Metabolic Service and a clinical geneticist in the Program in Genetics and Metabolism and is a Professor in the Department of Pediatrics and Child Health and the Department of Biochemistry and Medical Genetics, University of Manitoba. Dr. Rockman- Greenberg obtained her MDCM from McGill in 1974. She became a Fellow of the Royal College of Physicians and Surgeons of Canada (Pediatrics) in 1979 and in Medical Genetics in 1996. She has been a Fellow of the Canadian College of Medical Geneticists since 1982. She served as Medical Director of the Child Health program ,WRHA, and Head of the Department of Paediatrics and Child Health, University of Manitoba, from 2004-2014.
As an academic clinician, I have focused my 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 programmes relevant to patient care.
Much of my research has involved NEWBORN SCREENING. Newborn screening allows for presymptomatic 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 I am a part and we embrace the concept of Knowledge Translation– taking an area in metabolic genetics of major health importance to Manitoba, developing the hypothesis , research question, perform the research and recommend 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 .
I have 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 ie identifying the mutations distinguishing the infantile from the juvenile and adult forms of HPP.
More recently our Metabolic Disorders Research Team has been involved in CLINICAL TRIALS of Enzyme Replacement Therapy (ERT) for Hypophosphatasia and Fabry disease to name a few metabolic diseases. These ERT clinical trials are multicentre, multinational and usually industry- sponsored. This has opened up a whole new area of interest to me– how 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 ultrarare hereditary metabolic disorders.
Most recently with discovery of genes causing rare diseases has come the need to provide better DIAGNOSTIC TESTS. My colleagues Dr. Beth Spriggs and Dr. Barbara Triggs-Raine and I, with research funds from Diagnostic Services Manitoba, spearheaded the development of a Custom-designed “Hutterite CHIP” to simultaneously test for 34 mutations in 32 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– next step is to secure additional funding to evaluate impact of the CHIP with respect to patient acceptance, uptake and attitudes. Again all this has been done in partnership with Hutterite leaders.