Marking 15 years of the genetic and rare diseases information center
J Lewis, M Snyder… - Translational science of …, 2017 - content.iospress.com
BACKGROUND: The Genetic and Rare Diseases Information Center (GARD), a program of
the National Center for Advancing Translational Sciences, was established in 2002 to assist …
the National Center for Advancing Translational Sciences, was established in 2002 to assist …
[HTML][HTML] Collaboration for rare disease drug discovery research
NK Litterman, M Rhee, DC Swinney, S Ekins - F1000Research, 2014 - ncbi.nlm.nih.gov
Rare disease research has reached a tipping point, with the confluence of scientific and
technologic developments that if appropriately harnessed, could lead to key breakthroughs …
technologic developments that if appropriately harnessed, could lead to key breakthroughs …
Health Services Interventions to Improve the Quality of Care in Rare Disease: A Scoping Review
C Chou, SO Wiredu, L Von Imhof, A Tan, S Agarwal… - medRxiv, 2024 - medrxiv.org
Background: Rare diseases are often complex, multi-system disorders requiring specialized,
lifelong care. These diseases share significant challenges in healthcare delivery, including …
lifelong care. These diseases share significant challenges in healthcare delivery, including …
A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can …
Background Evidence-based clinical practice is challenging in all fields, but poses special
barriers in the field of rare diseases. The present paper summarises the main barriers faced …
barriers in the field of rare diseases. The present paper summarises the main barriers faced …
Facilitating clinical studies in rare diseases
R Gopal-Srivastava, P Kaufmann - Rare Diseases Epidemiology: Update …, 2017 - Springer
In recent years, there have been many scientific advances and new collaborations for rare
diseases research and, ultimately, the health of patients living with rare diseases. However …
diseases research and, ultimately, the health of patients living with rare diseases. However …
Optimizing Rare Disease Registries and Natural History Studies
S Hesterlee - Rare Disease Drug Development: Clinical, Scientific …, 2021 - Springer
A pervasive challenge to drug development in rare diseases is understanding and
documenting their trajectories so that the effectiveness of new therapies can be measured …
documenting their trajectories so that the effectiveness of new therapies can be measured …
[HTML][HTML] Disease advocacy organizations catalyze translational research
SF Terry - Frontiers in Genetics, 2013 - frontiersin.org
Disease advocacy organizations have long played an important role in the continuum from
basic science to therapy development in rare disease research. PXE International has led …
basic science to therapy development in rare disease research. PXE International has led …
A powerful team: the family physician advocating for patients with a rare disease
T Dudding-Byth - Australian Family Physician, 2015 - search.informit.org
Background: Rare diseases are characteristically difficult to diagnose and for the majority,
there are no effective treatments or evidence-based management guidelines. Although it is …
there are no effective treatments or evidence-based management guidelines. Although it is …
The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network
PA Merkel, M Manion, R Gopal-Srivastava… - Orphanet Journal of …, 2016 - Springer
Background Among the unique features of the Rare Diseases Clinical Research Network
(RDCRN) Program is the requirement for each Consortium to include patient advocacy …
(RDCRN) Program is the requirement for each Consortium to include patient advocacy …