Max Rady College of Medicine
Pediatrics and Child Health
Room 711C - 715 McDermot Avenue
Winnipeg, Manitoba R3E 3P4
Dr. Cheryl Rockman-Greenberg’s research is focused 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 of diagnostic or newborn screening programs relevant to patient care and as access to new proven innovative treatments and clinical trials.
Newborn screening allows for pre-symptomatic detection of metabolic genetic disorders that are amendable to effective treatment, if detected before symptoms appear. These disorders have been the focus of Dr. Rockman-Greenberg’s metabolic disorders research team at Children’s Hospital Research Institute of Manitoba (CHRIM). The 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 academia 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 the 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 and has now evolved to second tier confirmatory DNA-based tests. In September 2020, universal newborn screening for severe combined immunodeficiency disease was added to the panel of disorders screened at birth based on research findings and pilot programs.
She has also pursued gene discovery initiatives as a member of the Centre for the Investigation of Genetic Disorders. Examples include the cloning of two genes associated with limb girdle muscular dystrophy (LGMD2H and 21) in Hutterites, cloning of the Bowen-Conradi gene in Hutterites, mapping of the gene causing hypophosphatasia (HPP) among Mennonites and identifying the molecular basis for HPP, i.e. identifying the mutations distinguishing the infantile from the juvenile and adult forms of HPP.
Dr. Rockman-Greenberg’s team has been actively involved in clinical trials of enzyme replacement therapy and/or substrate reduction therapy for HPP and Fabry disease to name a few metabolic diseases. These clinical trials are multicenter, multinational and may be industry-sponsored. This has led to an interest in 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 ultra-rare hereditary disorders.
Dr. Cheryl Rockman-Greenberg obtained her medical degree from McGill University in Montreal in 1974. At McGill, her mentors introduced her to the emerging fields of medical and biochemical genetics. She subsequently trained both in pediatrics and medical genetics, becoming a Fellow of the Royal College of Physicians and Surgeons of Canada in pediatrics in 1979 and in medical genetics in 1992 and a Fellow of the Canadian College of Medical Geneticists in 1982. Her academic career as a clinical and metabolic geneticist began at Winnipeg Children’s Hospital and the pediatrics and child health department at UM in 1979, where she has worked ever since. Over her career, Dr. Rockman-Greenberg also served as director of the metabolic service in the genetics and metabolism department and medical director of the child health program at the Winnipeg Regional Health Authority (WRHA). She is currently a metabolic geneticist at the WRHA, a clinician scientist in the Children’s Hospital Research Institute of Manitoba and distinguished professor of pediatrics and child health and biochemistry and medical genetics at UM.
Pediatrics and Child Health
CE-208 Children's Hospital, Health Sciences Centre
840 Sherbrook Street
University of Manitoba
Winnipeg, MB R3A 1S1 Canada