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Never seen anything as effective – the not-so-new-drug repurposed for a rare disease – Horizon Magazine Blog

Never seen anything as effective – the not-so-new-drug repurposed for a rare disease – Horizon Magazine Blog
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Finding rare diseases in common places: The role of primary care in detection and diagnosis

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

Studies describe the results of unprecedented collaboration to diagnose people living with rare diseases

Unprecedented data sharing driving new rare disease diagnoses in Europe

 E-Mail 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

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