February 27, 2019

NEPTUNE has embraced the concept of Precision Medicine proposed by the Institute of Medicine in 2011. The Precision Medicine strategy proposes the development of new disease definitions generated by a multilayered analysis of the disease course while patients receive their usual clinical care in observational studies.

February 27, 2019
The PIDTC conducts multi-center studies of primary immune deficiency (PID) diseases and aims to expand the understanding and improve treatments and outcomes for patients with rare PIDs.
February 27, 2019

Through a recently awarded Clinical Trial Readiness grant from NINDS, CReATe investigators are now tapping into the invaluable resource that is the CReATe Biorepository in an effort to clinically validate leading biological fluid-based biomarker candidates to aid the design and implementation of future clinical trials.

February 27, 2019

Through research, the BBDC is discovering new biomarkers of the disease that will lead to a deeper understanding of underlying pathophysiology of OI as well as assessing response to therapies

January 05, 2018

The creation of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) incorporated the patient perspective into the decision-making process for eosinophilic gastrointestinal disorders (EGIDs), improving the research and collaborations for these conditions. Three CEGIR patient advocacy groups provide insight into the differences that CEGIR has made for their organizations and for individuals with EGIDs.

January 04, 2018

Dr. Rauch, a pediatrician with Metabolic and Genetic Bone Disorders and the Director of Clinical Laboratories at Shriners Hospitals for Children in Montreal, has been awarded the Charles Slemenda Award in recognition for his important work in pediatric bone disease research.

January 03, 2018

Dr. Tiina Urv is the new director of the Extramural Research Program in the Office of Rare Diseases Research (ORDR). She leads the Rare Diseases Clinical Research Network (RDCRN), a multidisciplinary national program. As the NCATS Program Director for RDCRN, Tiina collaborates with 10 NIH Institutes to manage 21 consortia and a central Data Management and Coordinating Center.