A new Toolkit for Patient-Focused Therapy Development

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 [...]

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

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 2017 – three year [...]

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

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 [...]

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

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 ha [...]

Microdystrophin restores muscle strength in dogs suffering from Duchenne muscular dystrophy

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 g [...]

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

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 des [...]