• Friedman, Jan


    Senior Clinician Scientist, CFRI
    Professor, Medical Genetics, University of British Columbia

    Degrees / Designations
    Primary Area of Research
    Genetics & Health
    Secondary Area(s) of Research
    604-875-2000 ext. 5623
    Lab Phone
    Liza Mak
    Assistant Phone
    604-875-2000 ext. 5626
    Mailing Address
    Medical Genetics Research Unit
    BC Children's Hospital and BC Women's Hospital & Health Centre

    Box 153, 4480 Oak Street
    Vancouver, BC V6H 3V4

    Affiliate Websites
    Research Areas
    •  Medical genetics

    •  Neurofibromatosis

    •  Clinical teratology

    •  Genetic epidemiology

    •  Molecular cytogenetics


    I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas:

    • Application of advanced genomic technology to identifying the causes of mental retardation;
    • Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and
    • Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy. 
    Current Projects
    • For 50 years, we have known that chromosomal abnormalities, which produce gain or loss of genomic material, are a major cause of mental retardation. Recent studies have shown that mental retardation in some children is caused by genomic imbalance that is much too small to detect by conventional chromosomal analysis. We are using newly developed technologies such as array genomic hybridization and high-throughput DNA sequencing to identify, characterize and understand the clinical consequences of the genomic alterations that cause at least 25% of all mental retardation.

    • People with neurofibromatosis 1 often develop large numbers of benign tumours throughout their bodies, and some of these tumours may become malignant. Debilitating skeletal abnormalities and a characteristic vascular disorder, which may cause stroke, heart disease, or death in early adulthood, may also occur. We are conducting clinical, epidemiological and laboratory studies of these and other manifestations of neurofibromatosis to determine their frequency, natural history, and pathogenesis in affected patients.

    • Prescription medications are not tested for safety in human pregnancy before they are approved for marketing, and the passive adverse event reporting schemes required after regulatory approval have proven to be inefficient means of identifying maternal drug treatments that can harm the embryo or fetus. As a consequence, the average time required to recognize that a newly marketed drug can harm the developing embryo or fetus is more than 7 years, and the fetal risk or safety of more than 90% of prescription drugs approved for clinical use since 1980 is unknown. We are doing studies of various maternal treatments during pregnancy and birth defect risk in the children using data from a large US study in collaboration with the Centers for Disease Control and Prevention in Atlanta, GA.
    Selected Publications

    Broussard CS, Rasmussen SA, Reefhius J, Friedman JM, Jan MW, Riehle-Colarusso T, Honein MA. Maternal treatment with opioid analgesics and risk for birth defects. Am J Obstet Gynecol 204(4):314.e1-11, 2011. PMID: 21345403

    Baser ME, Friedman JM, Joe H, Shenton A, Wallace AJ, Ramsden RT, Evans DRG. Empirical development of improved diagnostic criteria for NF2. Genet Med 13(6):576-81, 2011. PMID: 21451418

    Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Medical Genomics 4:25, 2011. PMID: 21439053

    Tucker T, Riccardi VM, Brown C, Fee J, Sutcliffe M, Wechsler J, Wolkenstein P, Friedman JM. S100B and neurofibromin immunostaining and X-inactivation patterns of laser microdissected cells indicate a multicellular origin of some NF1 associated neurofibromas. J Neurosci Res 89(9):1451-60, 2011. PMID: 21674567

    Moore RA, Warren RL, Freeman JD, Gustavsen JA, Chenard C, Friedman JM, Suttle CA, Zhao Y, Holt RA. The sensitivity of massively parallel sequencing for detecting candidate infections agents associated with human tissue. PLOS One 6(5):e19838, 2011. PMID: 21603639

    Tucker T, Riccardi VM, Sutcliffe M, Vielkind J, Wolkenstein P, Friedman JM. Different patterns of mast cells distinguish diffuse from encapsulated neurofibromas in patients with neurofibromatosis 1. J. Histochem Cytochem 59(6):584-90, 2011. PMID: 21525187

    Friedman JM. How do we know if an exposure is actually teratogenic in humans? Amer J Med Genet C 157(3):170-174, 2011. PMID: 21766430

    Adam MP, Polifka JE, Friedman JM. Evolving knowledge of the teratogenicity of medications in human pregnancy. Amer J Med Genet C 157(3):175-182, 2011. PMID: 21766440

    Friedman JM. Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot? Birth Defects Res A Clin Mol Teratol. 91(12):986-9, 2011. PMID: 22140073

    Bombard Y, Palin JA, Friedman JM, Veenstra G, Creighton S, Bottorff JL, Hayden MR, Canadian Respond-HD Collaborative Research Group. Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease. Neuropsych Genet. 159B(2):217-226, 2012. PMID: 22231990

    Honours & Awards

    2012 Distinguished Medical Research Lecturer Award, Faculty of Medicine, University of British Columbia

    Fellow of the Canadian Academy of Health Sciences

    UBC Killam Teaching Award – Faculty of Medicine, 2010

    Terry Klassen Lecuturer, Women’s & Children’s Health Research Institute, Edmonton, Alberta, 2010

    UBC Department of Medical Genetics Basic Science Teaching Award, 2009

    Irene Uchida Lecturer, Univesity of Manitoba, 2009

    Josef Warkany Lecturer, Teratology Society, 2009

    Robert L. Brent Lecturer, Teratology Society, 2008

    Bock Prize and Lectureship in Developmental Biology and Genetics, Alfred I. DuPont Hospital for Children of the Nemours Foundation, 2008

    Nominated for the Charles C. Shepard Science Award for the most outstanding peer-reviewed research paper published by CDC scientists – 2002, 2006 (twice), 2007, 2008

    Thomas Shepard Award, Organization of Teratogen Information Specialists, 2006

    National Neurofibromatosis Foundation Center of Excellence Award - 2001 (first time awarded)

    "The Effects of Drugs on the Fetus and Nursing Infant" (by J.M. Friedman and J. Polifka), listed as one of the best health science books of 1997 by Doody's Rating Service

    UBC Dept. of Medical Genetics Clinical Teaching Award - 1995 (first time awarded)

    Research Group Members
    Shelin Adam, MSc – Coordinator, BC Clinical Genomics Network
    Patricia Birch, MSc – Lab manager
    Cristina Dias, MD – PhD student
    Isabel Filges – Postdoctoral fellow
    Kimberly Jett – PhD student
    Liza Mak – Administrative assistant
    Nancy Makela, RN – Genetic Counsellor
    Margaret McKinnon, MD – Resident
    Lesley Phillips, PhD – Business Manager, BC Clinical Genomics Network
    Ruth Thomas, MSc – Genetic Counsellor, BC Clinical Genomics Network
    Farah Zahir – Postdoctoral fellow