2001 INDUCTEE Charles Scriver, MD Cells, Genetics & Genomics, Public Health, Health Promotion & Advocacy, Skin, Bones, Muscles & Joints

Charles Scriver inducted into the Canadian Medical Hall of Fame

Winnipeg, Manitoba

Named Alva Professor of Human Genetics at McGill

Scriver focuses and significantly extends his career-long research on Phenylketonuria (PKU) as a prototype to study the development and use of methods of genetic screening in newborn populations, and therapeutic approaches to such diseases.

Later work with deBelle lab colleagues, Paula Waters and Christineh Sarkissian and diverse international teams of collaborating scientists in academia and industry leads to important advances in enzyme substitution therapy for the treatment of PKU.

Appointed Chief Editor of The Metabolic and Molecular Bases of Inherited Disease (6th to 8th editions)

Over the next two decades, Scriver spearheads the expansion and transition of this monumental multi-volume reference text in the field of genetics to the essential, continuously updated online resource it remains today.

Elected President of the American Society of Human Genetics, subsequently serving (1988) as President of the Society for the Study of Inherited Metabolic Diseases (UK)

Forms an international consortium to create an online locus-specific mutation database for Phenylalanine Hydroxylase

This marked a strategic move by the deBelle team into the emerging new field of bioinformatics. The database becomes a prototype linked to a newly created Human Variome Project, a precursor to the later Human Genome Project.

The National Food Distribution Centre for the Treatment of Metabolic Diseases is created

Founded with the collaboration of philanthropist, Arnold Steinberg, and the grocery retail industry, the Centre facilitates the delivery of nutritional formula to children in need. Dr. Scriver serves as its first president.

Establishes, with F. Clarke Fraser, the McGill Group in Medical Genetics

With continuous competitive grant support from the Medical Research Council and successor Canadian Institutes for Health Research for the next 37 years, it was to be the longest active biomedical research group in the history of Canada, publishing over 1400 articles.

Charles Scriver's vision of "community genetics" is further realized through community driven genetic screening and education programs

These initiatives were developed in collaboration with various Montreal area cultural communities and their members including religious leaders, high-school students and teachers. Counselling and screening for Mendelian disorders such as phenylketonuria, Tay-Sachs disease and thalassemia empowers individuals with knowledge and choice about hereditary disorders prevalent in their communities.

Vitamin D is added to bottled milk across Quebec

This resulted in a dramatic decline in cases of childhood rickets. The success of this epidemiological research and implementation leads to the further discovery of inborn errors of calcium or phosphate metabolism in the relatively small number of new cases of childhood rickets subsequently observed in Quebec.

He became a full professor and founded The Quebec Network of Genetic Medicine

Developed in collaboration with fellow geneticists across Quebec's teaching hospitals, the network pioneers a program to screen newborns for congenital disorders that becomes an international benchmark. As a result, many children subsequently receive timely and crucial treatment to mitigate the development of disease and associated complications.

Charles Scriver and clinical collaborator, Carol Clow, explain the nutritional cause for vitamin D deficiency

The deficiency is associated with childhood rickets, a bone deformation condition historically prevalent in Quebec, especially in poorer urban populations. Not satisfied with scientific research alone, Scriver speaks before the 1967 Castonguay Commission, then designing Quebec's medicare system, to advocate for the province-wide fortification of milk with vitamin D.

Key early publications in Nature, and the NEJM on Hartnup's Disease, and hyperprolinemia, a hitherto unknown inborn error of metabolism, illustrate a new concept of transport

The deBelle Laboratory for Biochemical Genetics is founded at the Montreal Children's Hospital by Dr. Charles Scriver

Translating novel techniques and concepts of cellular physiology that had just been emerging from biochemical genetics during his time with Dent in London, Scriver's new and growing lab pursues a number of studies over the next decade into the genetic disorders of children, focusing in particular on inborn errors of metabolism and membrane transport.

Scriver joins the Department of Pediatrics at McGill University

Returning to his alma mater as Chief Resident in Pediatrics, Scriver had completed his pediatric training at Harvard University's Children's Medical Center in Boston, followed by a seminal two-year fellowship in the Metabolic Unit of Professor Charles E. Dent at University College Hospital, London (1958-60).