Posts by Marlène Jagut

A new Toolkit for Patient-Focused The...

A new Toolkit for Patient-Focused Therapy Development

The National Center for Advancing Translational Sciences (NCATS) released its new Toolkit for Patient-Focused Therapy Development at a public meeting on the NIH campus on September 8. The toolkit is a centralized portal of the “how-to” resources and tools that patient support organizations can use to advance translation for their diseases, from discovery through clinical […]

Future of rare diseases research 2017...

Future of rare diseases research 2017-2027: an IRDiRC’s perspective

IRDiRC, officially launched in 2011, was originally conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The last six years have seen considerable progress on these goals: the goal to deliver 200 new therapies was achieved in early […]

Progress in rare disease research 201...

Progress in rare disease research 2010-2016: an IRDiRC’s perspective

IRDiRC, officially launched in 2011, was formed to unite public and private sector funders of research, patient advocacy groups, and scientific researchers to advance rare disease research worldwide. At its origin, IRDiRC had two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the […]

IRDiRC Goals 2017-2027: New rare dis...

IRDiRC Goals 2017-2027:  New rare disease research goals for the next decade

The International Rare Diseases Research Consortium (IRDiRC) is proud to announce the new vision and goals for 2017-2027. IRDiRC, officially launched in 2011, was originally conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The last six years […]

Microdystrophin restores muscle stren...

Microdystrophin restores muscle strength in dogs suffering from Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is the most common neuromuscular disorder in children. It is associated with abnormalities in the DMD gene, which encodes dystrophin, a protein essential for proper muscle function. This gene is one of the largest in our genome (approximately 11,000 […]

Japan’s Initiative on Rare and Undiag...

Japan’s Initiative on Rare and Undiagnosed Diseases (IRUD): towards an end to the diagnostic odyssey

Japan has a long history of tackling hard to diagnose rare diseases (called Nan-Byo in Japanese  for “difficult illness”, literally). The first public definition for Nan-Byo appeared in 1972. Since then the Ministry of Health, Labour and Welfare (MHLW) has played a key role in supporting Rare Diseases (RD) research, enabling the number of designated Nan-Byo to rise from […]