ASCPT SIGN IN
Username:
Password:
SEARCH

Translational Bytes
To read the full post, please click on the title.

A Common Vision for Uncommon Diseases

In 2011, the International Rare Diseases Research Consortium (IRDiRC) was launched across stakeholders to create a common public and private sector vision and approach to rare diseases. In 2017, the IRDiRC has exhibited substantial progress towards ambitious goals of developing 200 new therapies and the means to diagnose most rare genetic diseases by the year 2020. Progress and the future vision were recently highlighted in two Clinical and Translational Science articles authored by the IRDiRC.  

Dawkins et al. demonstrate the remarkable accomplishments of the IRDiRC over the last six years, particularly towards improved diagnostics and patient care. Enormous progress has been seen in diagnostics, including research, identification of rare diseases, and new diagnostic tests, all driven by a revolution in next-generation genomics. In patient care, between 2010 and 2016, over 220 new therapeutics – treating over 170 diseases – have reached clinical use. The Consortium has enabled greatly increased cross-stakeholder collaboration, from the US NIH to the Japan Agency for Medical Research and Development (AMED). Furthermore, IRDiRC has been a positive influence on raising public awareness of rare diseases, leading to increased investment of public sector research funds for rare diseases.  

Austin et al. reflect on the future of the IRDiRC. Since the Consortium’s 2020 goals were largely met well ahead of schedule, the IRDiRC is in the position to set a new vision and take on additional challenges, of which there are many in rare disease. The new vision is to “enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.” To pursue this vision, the IRDiRC has set up three ambitious, new goals over the next decade: 1) diagnose all patients coming to medical attention with a suspected known rare disease within one year, 2) approve 1,000 new therapies for rare diseases, and 3) create methodologies to assess the impact of diagnoses and therapies. Not only has the IRDiRC over-achieved on its original objectives, they have set the Consortium up with ambitious goals for the next decade, all in service of patients with rare diseases.

 

 

Categories: CTS
Tags:
Print

Please login or register to post comments.

Name:
Email:
Subject:
Message:
x
528 N Washington St, Alexandria, VA 22314 |  Ph: 703.836.6981 |  info@ascpt.org