July 3, 1939

(Boston, Massachusetts )


MD, University of Washington (1966)

MSc, University of Washington (1965)

Awards & Honours:

2018: David L. Rimoin Lifetime Achievement Award, American College of Medical Genetics and Genomics Foundation for Genetic and Genomic Medicine

2012: Queen Elizabeth II Diamond Jubilee Medal

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Picture of Judith Hall

Defined previously unknown genetic conditions and documented the natural history of genetic diseases

Sketch of Dr. Hall

An exemplary clinical investigator and passionate thought leader

Judith Hall moved to the University of British Columbia (UBC) in 1981 as a professor of medical genetics and was appointed head of paediatrics at UBC and BC Children's Hospital in 1990. Dr. Hall specialized in the genetic factors that affect lack of children’s growth, including the mechanism of neural tube defects, the genetics of short stature and the genetics of connective tissue disorders such as arthrogryposis, dwarfism, and monozygotic twins. She helped to clarify medical understanding of how folic acid helps reduce birth defects, and identified a new cause of dwarfism. She has also worked with physicians to develop guidelines for care of common disorders, and with lay groups to explain genetic disease that helped parents choose among the available care options.

Key Facts

Integrated herself into patient care networks to ask better questions in her scientific research

Described new genetic syndromes, include one that bears her name: Pallister-Hall syndrome

Was the first to define Amyoplasia (the most common form of arthrogryposis)

Has written 367 peer-reviewed articles, 111 chapters and 12 books

Her co-edited publication, Human Malformations and Related Anomalies, with Roger E. Stevenson, became the best known and most widely used work on human congenital anomalies

Assisted lay groups to form and connect internationally as a way to encourage research and advocacy

Professional timeline

Impact on lives today

Dr. Hall, shown here with her grandchildren, has profoundly impacted our knowledge of genetic diseases and disease processes. Using her keen observational talents, she has described and documented previously unrecognized syndromes, and documented the natural history of several genetic diseases.  Her interests extended well beyond traditional mechanisms of disease inheritance, to include the study of epigenetic mechanisms, developmental origins of disease that occurs later in life, and conditions related to the presence of cells from two different individuals (chimerism) or a mixture of genetically altered and normal cells (mosaicism).  Her observations and ideas have stood the test of time and form a large part of our current understanding of childhood disease.  

Picture of Judith Hall and family


  • Received an Honorary Degree from the University of British Columbia

  • Judith Hall Induction speech

    Judith G. Hall inducted into the Canadian Medical Hall of Fame

    Winnipeg, Manitoba

  • Dr. Hall’s leadership and influence shifted to a global scale as she became President of the International Federation of Human Genetics Societies

  • Recognizing a gap in the Canadian research landscape, Dr. Judith Hall became a founding member of the Canadian Academy of Health Sciences

    Leadership in Organizational Development

  • Recognized by American Health as one of the “Best Doctors in America”

    From 2003-2008, Dr. Hall was awarded the Canadian equivalent.

  • Dr. Judith G. Hall’s medical expertise and capacity for leadership was well-respected internationally

    Women in Medicine

    In 1995, she was elected President of the American Society of Human Genetics and, in 1997, became President of the North Pacific Pediatric Society. From 2001-2002 she also served as the President of the American Pediatric Society.

  • Dr. Hall strengthened her commitment to children’s health as Head of the Department of Pediatrics at UBC and BC Children’s Hospital

  • Image courtesy of the University of British Columbia 325 x 230

    Dr. Hall came to UBC as Professor of Medical Genetics with additional appointments in medicine and pediatrics

  • In recognition for her advocacy of lay-organizations

    Dr Hall was named Honorary Lifetime Member of “Little People of America” 1975, a national nonprofit organization that provides support and information to people of short stature and their families.

  • After completing a postdoctoral fellowship in medical genetics, Dr. Hall trained in pediatrics at Johns Hopkins Hospital from 1969 to 1971

    She then completed a fellowship in pediatric endocrinology.

  • Fostering an Interest in Scientific Research

    Before completing medical school, Dr. Hall was awarded a master’s degree of science in genetics for her work with Arno Motulsky at the University of Washington.

  • Graduated from Wellesley College, a prestigious all-girls school in Massachusetts


She’s able to see relevance and questions that others wouldn’t see.