• Hall, Judith G.


    Investigator Emerita, BC Children's Hospital
    Emerita Professor, Departments of Pediatrics and Medical Genetics, University of British Columbia

    Degrees / Designations
    BA (Zoology), M.Sc. (Genetics), MD
    Primary Area of Research
    Healthy Starts
    Secondary Area(s) of Research
    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, epigenetics, and parent of origin effects
    • Folic acid
    • Developmental fetal origins of adult health and disease (DOHaD)

    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 45 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 (delineating specific types and their natural history, as well as an approach to diagnosis), neural tube defects and folic acid, and non-traditional mechanisms of genetic inheritance – including mosaicism,  imprinting, and epigenetics. I plan to continue to work on arthrogryposis and natural history studies since they are extremely important in the understanding of proteomics and gene action. 
    My work has always been of a clinical nature, best exemplified by the publication of Majewski Osteodysplastic Primordial Dwarfism Type II, in which the natural history of this very rare syndrome was outlined and Amyoplasia, the most common form of arthrogryposis (multiple congenital contractures). 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. By contrast, Amyoplasia appears to be totally separate and related to vascular compromise in utero. 
    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 400 different types. Genes have been found or mapped for about 150 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. "The Clinic Is My Laboratory: Life as a Clinical Geneticist." Annu Rev Genomics Hum Genet. 2017 Apr 4. PMID: 28301737

    Stevenson R, Hall JG and Goodman R. Human Malformations and associated anomalies, 3rd ed. Oxford University Press, Oxford, NY, in press 2015. 

    Hall JG. Arthrogryposis (Multiple Congenital Contractures): Diagnostic Approach to Etiology, Classification, Genetics, and General Principles. Eur J Med Genet 57:464-472, 2014. PMID: 24704792.

    Hall JG, Aldinger KA, Tanaka KI.: Amyoplasia revisited. Am J Med Genet A. 2014 Mar;164A(3):700-30. PMID: 24459070.

    Hall JG.: Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses. Am J Med Genet A. 2014 Apr;164A(4):859-73. PMID: 24459095.

    Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium.: Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013 Nov;161A(11):2726-33. PMID: 24124000.

    Filges I, Hall JG.: Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. Prenat Diagn. 2013 Jan;33(1):61-74. PMID: 23296716.
    Gripp KW, Slavotinek AM, Hall JG, Allanson J. Handbook of Physical Measurements, 3rd ed. Oxford University Press, NY, 2013.
    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. PMID: 15368497.
    Hall JG. Twinning. Lancet. 362:735-43, 2003. PMID: 12957099.
    Hall JG and American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatr 95:443-451, 1995. PMID: 16140722.
    Hall JG. Genomic imprinting - review and relevance to human diseases. AJHG 46:857-873, 1990. PMCID: 1683580.
    Hall JG, Sybert VP, Williamson RA, Fisher NL and Reed SD. Turner's syndrome. West J Med 137:32-44, 1982. 
    Hall JG, Pauli RM and Wilson KM. Maternal and fetal sequelae of anticoagulation during pregnancy – A review. AJM 68:122-140, 1980. PMID: 6985765.


    Honours & Awards

    Canadian Medical Hall of Fame (2015)

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

    Queen's Diamond Jubilee Medal (2012)

    Fellowship in the Royal Society of Canada, Academy III (2010)

    UBC Alumni Award for Outstanding Community Service (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