Projects

Improving access to the Dutch registry for metabolic diseases (DDRMD) and translating the knowledge on the pathophysiological consequences of the registered disorders
The Dutch Diagnosis Registration Metabolic Diseases is a highly successful web-based registry developed within the TI Pharma project 'Orphan Drugs Registry'. All Academic Metabolic Centers participate in the registration. Currently, the DDRMD contains core data on more than 5000 patients, with over 300 rare metabolic diseases.

Data contained in the DDRMD are currently used to facilitate research on different groups of metabolic diseases and to evaluate the outcome of the expanded newborn screening program on metabolic diseases. This project aims to expand the use of the DDRMD for research on therapy for more common disorders. As metabolic diseases can be considered "experiments in nature" (William Harvey 1657), studying pathophysiology and therapeutic efficacy in this group of disorders may provide essential information on pathophysiology and treatment of more common disorders. Furthermore all humans carry multiple genetic mutations and polymorphisms, of which the effects are yet unclear but are potentially of great interest for developing "personalized medicine". This concept has gained new momentum with the recent advancements of "full exome sequencing", allowing easy and reliable detection of these genetic variations in large groups of individuals.

Indeed, growing insight on the importance of heterozygosity for metabolic diseases, and on the clinical effects of milder metabolic diseases is unfolding. Knowledge on the combination of signs and symptoms of metabolic diseases on the one hand and pathophysiology on the other hand may become a powerful tool for understanding the significance of detected "genetic variants", and its link to "personalized medicine" and development of new therapeutic strategies.

This program will improve access to the accumulating data from the DDRMD and to facilitate translation of knowledge on the pathophysiological consequences of the registered disorders, in order to accelerate research on development of novel therapies.

Fast facts
Full project title: From rare to common: using the DDRMD for research on drug metabolism and innovation
Start date: 1 January 2012
End date: 31 December 2013
Goal: Improving access to the Dutch registry for metabolic diseases (DDRMD) and translating the knowledge on the pathophysiological consequences of the registered disorders.
Principal investigator: Gepke Visser
Project budget: 470 k€
Partners: UMCU, AMC, Genzyme, GSK, BioMarin
Supporting partner: Shire

“TI Pharma's program managers are experts in the content, enabling them to keep parties focused on the goals that were agreed upon at the outset.”

Jan Raaijmakers
Past VP External Scientific Collaborations GSK Europe
Chair TI Pharma Board of Directors

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