• Hall, Judith G.

    Clinical Investigator Emerita, CFRI
    Emerita Professor, Departments of Pediatrics and Medical Genetics, University of British Columbia
    Degrees / Designations
    BA (Zoology), M.Sc. (Genetics), MD
    Primary Area of Research
    Genetics & Health
    Secondary Area(s) of Research
    Reproduction & Healthy Pregnancy
    Lab Phone
    Kimi Tanaka
    Assistant Phone
    Mailing Address
    BC Children's Hospital
    Room C234, 4500 Oak Street
    Vancouver, BC V6H 3N1
    Affiliate Websites
    Research Areas
    • Clinical genetics
    • Syndrome identification
    • Birth defects
    • Genetics of short stature, including dwarfism, Turner syndrome, growth hormone deficiency
    • Genetics of connective tissue disorders, including arthrogryposis
    • Natural history of human genetic disorders
    • Etiology of congenital anomalies including neural tube defects, thrombocytopenia absent radius, twins, and many other syndromes
    • Non-traditional inheritance including mosaicism, uniparental disomy, genomic imprinting, and parent of origin effects
    • Folic acid
    • Developmental fetal origins of adult health and disease

    I am a pediatrician and clinical geneticist who has used the unusual patient to study gene action, natural history, and the recognition of non-traditional mechanisms of genetic disease. I have emphasized the tissue-specific and time-specific nature of gene expression as well as the changes of gene expression during embryonic/fetal/childhood development. I enjoy synthesizing complex genetic information and communicate to all levels of audience.
    I have contributed in many leadership roles, including Presidency of the American Society of Human Genetics and the American Pediatrics Society, during which I reshaped their priorities and commitments. I’ve served on numerous national and international committees and boards and have received many honours for my scientific contributions and lifetime achievements. Among my publications are summary reviews and articles that are considered classics, having introduced aspects of the new genetics. I have advocated for folic acid supplementation, pediatric physician resources, the development of specific disease health guidelines, and research on rare genetic disorders and natural history.

    Current Projects

    I’ve been doing clinical research for the last 35 years. I have been interested in the delineation of congenital anomalies and syndromes that have a genetic nature. In particular, I have worked on the genetics of short stature (including achondroplasia, Turner syndrome, and dwarfing syndromes), arthrogryposis, neural tube defects and folic acid, and non-traditional mechanisms of genetic inheritance – including mosaicism and imprinting. I plan to continue to work on arthrogryposis and natural history studies since these are extremely important in the understanding of proteomics and gene action.
    My work has always been of a clinical nature, best exemplified by the recent publication of Majewski Osteodysplastic Primordial Dwarfism Type II, in which the natural history of this very rare syndrome was outlined and distinguishing heterogeneity in Pena-Shokeir fetal akinesia deformation sequence. Based on clear clinical delineation the MOPD II gene was then identified and the natural history studies enabled the recognition of individuals previously call Seckel syndrome and varius familial forms of Pena Shokeir can now be described.
    My major interests have been the description of natural history, which requires following patients over time and learning about what has happened to them (both common and rare complications) to explain the gene action processes of the particular abnormality present. With regard to arthrogryposis, there are over 300 different types. Genes have been found or mapped for about 60 of them, and the others require careful description of the clinical features and natural history. Arthrogryposis gives an insight into mechanisms of normal movement, such as what is needed to move a limb (e.g. nerve, end plate, muscle, etc.) as well as the development of abnormalities that can occur.

    Selected Publications

    Hall JG.: Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. 2009, in press.

    Dillon ER, Bjornson KF, Jaffe KM, Hall JG, Song K.: Ambulatory activity in youth with arthrogryposis: a cohort study. J Pediatr Orthop. 2009 Mar;29(2):214-7.

    Hennekam RC, Cormier-Daire V, Hall JG, Méhes K, Patton M, Stevenson RE.: Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A. 2009 Jan;149A(1):61-76.

    Stevenson R, Hall JG and Goodman R. Human Malformations and associated anomalies, 2nd ed. Oxford University Press, Oxford, NY, 2007.
    Hall JG, Froster-Iskenius U and Allanson J. Handbook of Normal Physical Measurements, 2nd ed. Oxford University Press, Oxford, UK, 2007.
    Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet. 130A:55-72, 2004.
    Hall JG. Twinning. Lancet. 362:735-43, 2003.
    Hall JG and American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatr 95:443-451, 1995.
    Hall JG. Genomic imprinting - review and relevance to human diseases. AJHG 46:857-873, 1990.
    Hall JG, Reed SD and Driscoll Ep Part I. Amyoplasia: A common sporadic condition with congenital contractures. Am J Med Genet 15:571-590, 1983.
    Hall JG, Reed SD, McGillivray B, Herrmann J, Partington MW, Schinzel A, Shapiro J and Weaver DD. Part II. Amyoplasia: Twinning in amyoplasia - A specific type of arthrogryposis with an apparent excess of discordantly identical twins. Am J Med Genet 15:591-599, 1983.
    Hall JG, Sybert VP, Williamson RA, Fisher NL and Reed SD. Turner's syndrome. West J Med 137:32-44, 1982.
    Hall JG, Reed SD and Greene G. The distal arthrogryposes: Delineation of new entities - Review and nosologic discussion. Am J Med Genet 11:185-239, 1982.
    Hall JG, Pauli RM and Wilson KM. Maternal and fetal sequelae of anticoagulation during pregnancy – A review. AJM 68:122-140, 1980. 

    Honours & Awards

    Canadian College of Medical Genetics Founders Award for Excellence in Medical Genetics (2013)

    UBC Alumni Committee Award (2009)

    UBC School of Medicine Bill and Marilyn Webber Lifetime Achievement Award (2009)

    YWCA Distinguished Women Award in Science and Technology (2003)
    Best Doctors in Canada (2003, 2007-2008)

    Outstanding Alumni Award, Wellesley College (2004)

    Ross Award, Canadian Pediatric Society (2002)

    Queen’s Jubilee Medal (2002)

    Golden Jubilee Award of Excellence, UBC Faculty of Medicine (2000)

    Officer of the Order of Canada (1998)

    American Health Best Doctors in America (1996)

    Science Council of British Columbia Gold Medal (1996)
    Phoenix-Anni Verdi International Award for Genetic Research (1995)
    Johns Hopkins Society of Scholars Inductee (1994)

    March of Dimes/ Colonel Sanders Award for Lifetime Achievements in Clinical Genetics (1994)
    BC Science World Hall of Fame Inductee (1993)
    Outstanding Alumni Award, University of Washington School of Medicine (1992)
    UBC Senior Killam Research Prize (1991)

    Research Group Members

    Kimi Tanaka – Research assistant