Ontario, Canada
Dr. Wong-Rieger received her Ph.D. in psychology from McGill University and was formerly a professor at the University of Windsor, Canada. She is chair of Rare Diseases International, president of the Asia Pacific Alliance of Rare Disease Organisations, treasurer of the United Nations Nongovernmental Committee for Rare Diseases, chair of the Patient Advocacy Constituent Committee of the International Rare Diseases Research Consortium, patient advisor to the Asia-Pacific Economic Cooperation (APEC) Rare Disease Network, a member of the editorial board of
The Patient: Patient-Centered Outcomes Research, a member of the
Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease, and former cochair of the Health Technology Assessment International Interest Group for Patient and Citizen Involvement. In Canada, she is president and CEO of the Canadian Organization for Rare Disorders, chair of the Consumer Advocare Network, president and CEO of the
Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe.
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IMAGE: Sergi Beltran and Leslie Matalonga pictured in front of a supercomputer and servers that hosts the RD-Connect GPAP platform. The platform is located at the CNAG-CRG facilities in the Parc. view more
Credit: Centro Nacional de Análisis Genómico (CNAG-CRG)
Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. The findings are published today in a series of six papers in the
European Journal of Human Genetics.
In the main publication, an international consortium, known as Solve-RD, explains how the periodic reanalysis of genomic and phenotypic information from people living with a rare disease can boost the chance of diagnosis when combined with data sharing across European borders on a massive scale. Using this new approach, a preliminary reanalysis of data from 8,393 individuals resulted in 255 new diagnoses, some with atypical manifestations of kno
The earliest signs of alkaptonuria are often subtle and harmless, like a diaper stained black. However, over the years, this rare genetic disease can lead to a lifetime of surgery. Now, after 20 years of research, a not-so-new drug can offer relief for thousands of patients worldwide.
The disease, also known as AKU, prevents the breakdown of a chemical called homogentisic acid in the body. The kidneys help to clear this chemical and get rid of it through urine. When exposed to the air, it turns black and this is how parents usually spot the first sign of the condition in children.