Cheryl Greenberg

Dr.-Cheryl-Greenberg

Special Series: Twelve Canadians

7

Rare Genetics

By David Kattenburg

Of all the medical afflictions a person can suffer from, none is more burdensome than a rare condition for which no name exists, let alone treatment or support services.

 

An estimated 350 million people around the world suffer from some 7000 rare genetic and metabolic disorders, many linked to a single faulty gene. Clinicians might stumble across one of these once in their lifetime, and have no idea what they’re dealing with.

Now, a first-of-its kind web portal is allowing clinicians and geneticists around the world to match unusual symptoms with known mutant genes, and to provide firm counseling to patients in search of answers.

Phenome Central is a collaborative project of Care for Rare Canada and Australia, the US National Institute of Health’s Undiagnosed Diseases Program, and RD-Connect, in Europe. Officially launched in February 2014, the web site compiles anonymized case data on rare diseases, enabling clinicians with only their own case to go by to connect with others who’ve been dealing with something similar.

Dr. Cheryl Greenberg

Dr. Cheryl Greenberg

Such was the case Dr. Cheryl Rockman-Greenberg encountered fifteen years ago, in the form of a Winnipeg boy named William. “I remember him very well,” recalls Greenberg, head of the Department of Pediatrics and Child Health at the University of Manitoba, and Medical Director of the Child Health Program at Winnipeg’s Health Sciences Center. “I remember seeing him as an infant. “He had some unusual features, which in genetics is kind of a flag that you should do more genetic studies.”

Through Canada’s Care for Rare network, Greenberg has pursued a definitive diagnosis of young William’s condition. “If we have children with undiagnosed genetic or metabolic syndromes that we feel are likely single-gene, the ability to make a diagnosis through whole exome sequencing, or rapid throughput sequencing, will allow us to be very precise; not just what the diagnosis is, but what is the pattern of inheritance.”

Cheryl Greenberg sees herself as an advocate for patients suffering from conditions that defy definition. “Translational medicine,” it’s called. In recognition of her pioneering work on hypophosphatasia and other metabolic disorders of genetic origin, Greenberg was recently added to a list of powerful Canadian women.

Listen to Cheryl Greenberg describe her work. Click on the audio link above.

Twelve Canadians is a multimedia series about women and men who’ve been devoting their lives to social, economic or environmental justice, and to the healthy development of Canadian communities and the world. Each episode examines a specific issue or situation, through the voices of people who’ve been active in that area. Lots more than just twelve. Thanks to the Social Justice Fund of the Canadian Autoworkers Union for their generous support. Thanks as well to CKUW, University of Winnipeg Radio, and CFUV, at the University of Victoria.

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