• Friedman, Jan


    Investigator, BC Children's Hospital
    Professor, Medical Genetics, University of British Columbia

    Degrees / Designations
    Primary Area of Research
    Evidence to Innovation
    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

    Jett K, Nguyen R, Arman, D, Birch P, Chohan H, Farschtschi S, Fuensterer C, Kluwe L, Friedman JM, Mautner VF. Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumours in neurofibromatosis 1. Am J Med Genet A (in press). PMID: 25900062

    Filges I, Manokhina I, Peñaherrera MS, McFadden DE, Louie K, Nosova E, Friedman JM, Robinson WP. Recurrent triploidy due to a failure to complete maternal Meiosis II: whole exome sequencing reveals candidate mutations. Molec Human Reprd 21(4):339-46, 2015. PMID: 25504873

    Daston GP, Beyer BK, Carney EW, Chapin RE, Friedman JM, Piersma AH, Rogers JM, Scialli AR. Exposure-based validation list for developmental toxicity screening assays. Birth Defects Res B Dev Reprod Toxicol 101(6):423-8, 2014. PMID: 25475026

    Bove R, Alwan S, Friedman JM, Hellwig K, Houtchens M, Koren G, Lu E, McElrath T, Smyth P, Tremlett H, Sadovnick D. Management of multiple sclerosis during pregnancy and the reproductive years: A multidisciplinary review. Obstet Gynecol 124(6):1157-68,2014. PMID: 25415167

    Plotkin SR, Albers AC, Babovic-Vuksanovic D, Blakeley JO, Breakefield XO, Dunn CM, Evans DG, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Kalamarides M, McClatchey AI, Messiaen L, Morrison H, Parkinson DB, Stemmer-Rachamimov AO, Van Raamsdonk CD, Riccardi VM, Rosser T, Schindeler A, Smith MJ, Stevenson DA, Ullrich NJ, van der Vaart T, Weiss B, Widemann BC, Zhu Y, Bakker AC, Lloyd AC.  Update from the 2013 International Neurofibromatosis Conference.  Amer J Med Genet A 164A(12):2969-78, 2014. PMID: 25255738

    Filges I, Friedman JM.  Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes.  Prenat Diagn (in press). PMID: 25046514

    Lohn Z, Adam S, Birch PH, Friedman JM.  Incidental findings from clinical genome-wide sequencing: A review.  J Genet Couns 23(4):463-73, 2014. PMID: 23709124

    Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJM, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW, FORGE Canada Consortium, Friedman JM, Michaud JL, Boycott KM.  FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project.  Amer J Hum Genet 94(6):809-17, 2014. PMID: 24906018

    Demos MK, van Karnebeek CDM, Ross CJD, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJM, Friedman JM.  A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.  Orphanet J Rare Dis 9:15, 2014. PMID: 24468074

    Nguyen R, Jett K, Harris GJ, Cai W, Friedman JM, Mautner VF. Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1. J Neurooncol 116(2):307-13, 2014. PMID: 24166582

    McKinnon ML, Rozmus J, Fung S-Y, Hirschfeld AF, Del Bel K, Thomas L, Marr N, Martin S, Senger C, Tsang A, Prendiville J, Junker AK, Seear M, Schultz KR, Holt RA, Patel MS, Friedman JM, Turvey SE. Combined immunodeficiency associated with homozygous MALT1 mutations. J Allergy Clin Immun 133(5):1458-62, 2014.PMID: 24332264

    Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet 86(3):220-8, 2014. PMID: 24128419

    Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. Single-Exon-Resolution Targeted Chromosomal MicroArray Analysis of Known and Candidate Intellectual Disability Genes. Eur J Hum Genet 22(6):792-800, 2014. PMID: 24253858

    Thorpe PG, Gilboa SM, Hernandez-Diaz S, Lind J, Cragan JD, Briggs G, Kweder S, Friedman JM, Mitchell AA, Honein MA. National Birth Defects Prevention Study.  Medications in the first trimester of pregnancy: Most common exposures and critical gaps in understanding fetal risk.  Pharmacoepidemiol Drug Saf 22(9):1013-8, 2013.PMID: 23893932

    Morris E, Inglis A, Friedman JM, Austin J. Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists. Genet Med 15(9):713-20, 2013. PMID: 23579435

    Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos R, Menghrajani K, Ahaghotu C, Kollman T, Demos M, Friedman JM, Speert DP, Boerkoel CF, Gahl WA.  Recurrent Subacute Post-viral Onset of Ataxia Associated with a PRF1 Mutation.  Eur J Hum Genet 21(11):1232-9, 2013. PMID: 23443029

    Nguyen R, Mir T, Kluwe L, Jett K, Kentsch M, Mueller G, Kehrer-Sawatzki H, Friedman JM, Mautner VF.  Cardiac characterization of 16 patients with large NF1 gene deletions.  Clin Genet 84(4):344-9, 2013. PMID: 23278345

    Armstrong L, Jett K, Brich P, Kendler DL, McKay H, Tsang E, Stevenson DA, Hanley DA, Egeli D, Burrows M, Friedman JM.  The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study. Am J Med Genet Part A 161A(7):1654-61, 2013. PMID: 23713011

    Tucker T, Giroux S, Clément V, Langlois S, Friedman JM, Rousseau F. Prevalence of selected genomic deletions and duplications in a population-based sample of newborns.  Molec Genet Genomic Med 1(2):87-97, 2013. PMID: 24498606

    Peters SL, Lind JN, Humphrey JR, Friedman JM, Honein MA, Tassinari MS, Moore CA, Mathis LL, Broussard CS.  Safe Lists for Medications in Pregnancy: Inadequate Evidence Base and Inconsistent Guidance from Web-based Information, 2011. Pharmacoepidemiol Drug Saf 22:324-8, 2013. PMID: 23359404

    Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA.  Hospitalizations among people with Down Sndrome: a nationwide population-based Study in Denmark.  Am J Med Genet A 161A(4):650-7, 2013. PMID: 23404922

    Schnabel C, Jett K, Friedman JM, Frieling I, Kruse H-P, Mautner V.  Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study.  Joint Bone Spine 80(3):315-9, 2013. PMID: 23021159

    Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA.  Survival among people with Down syndrome: a nationwide population-based study in Denmark.  Genet Med 15(1):G4-9, 2013. PMID: 22878506

    Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schindeler K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Whyte M, Wilkes D, Viskochil DH, Yang F-C, Elefteriou F.  Approaches to Treating NF1 Tibial Pseudarthrosis – Consensus from the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium.  J Pediatr Orthop 33(3):269-275, 2013. PMID: 23482262

    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 – Clinical Assistant Professor, Research Genetic Counsellor
    • Hilal Al-Shekaili – PhD student
    • Dr Sura Alwan – Research Associate
    • Patricia Birch – Clinical Assistant Professor, Lab Manager
    • Helen Choi – Research Assistant
    • Rachel Coe – Research Assistant
    • Christele Du Souich, Clinical Assistant Professor, Genetic Counsellor, CAUSES Clinic
    • Dr Alison Elliott – Project Lead, CAUSES Clinic
    • Dr Alawi Habara – PhD student
    • Liza Mak – Administrative Assistant
    • Kris Roberts – Program Manager
    • Dr Farah Zahir – Postdoctoral fellow