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Advances in Rare Diseases Research

Wednesday, October 26, 2011 — Concurrent Symposia Session IV

Noon – 2:00 p.m.

Room E1/E2


  • Stephen Groft, OD


Traditionally, rare-diseases research has been driven by individual investigators funded by programs in individual institutes. The NIH Office of Rare Diseases Research (ORDR) sought to develop a new model for clinical research by leveraging the participation of multiple stakeholders to enhance the probability of success. The first program developed was the Rare Diseases Clinical Research Network, consisting of 19 consortia funded and/or managed by seven ICs. These consortia collaboratively investigate more than 90 rare diseases, initiate research projects, develop clinical studies, recruit patients, and train future rare-diseases investigators. ORDR is also establishing the infrastructure for a Global Rare Disease Patient Registry (GRDR) that can be linked to biorepository/biospecimen databases. The goal is to aggregate de-identified patient data from any patient registry to be made available to the rare disease community. These efforts have been very successful and endorsed by many sectors of the scientific community and the government.

Arterial Calcification Due to Deficiency of CD73: Identification of a New Genetic Disease and Mechanism Regulating Arterial Calcification *FARE Award Winner
Cynthia St. Hilaire, NHLBI

Biomarkers and Mechanism of Catecholaminergic Denervation in Chronic Autonomic Failure
David Goldstein, NINDS

Pathophysiology of Dystonia
Mark Hallett, NINDS

New Approaches for the Treatment of Bronchiolitis Obliterans Syndrome after Hematopoietic Stem Cell Transplantation
Kirsten Williams, NCI

Idiopathic Bronchiectasis: Unraveling Genetic Links and Host Susceptibility to Chronic Airway Infection
Kenneth Olivier, NIAID

Chronic Granulomatous Disease: Lessons From a Rare Disorder
Harry Malech, NIAID

Why Do African Americans Get More Kidney Disease?
Jeffrey Kopp, NIDDK

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