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NORD Awards Ten New Grants in Eight Disease States for Rare Disease Research

WASHINGTON: The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 25-30 million Americans living with rare diseases, has announced ten new grants as part of its Rare Disease Research Grant Program, which celebrates its 30th anniversary in 2019.

Research grants have been awarded to the following institutions and investigators

For the study of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV), with funding from The David Ashwell Foundation, Alveolar Capillary Dysplasia Association and William Akers, Jr. & Georgia O. Akers Private Foundation, Inc.

Csaba Galambos, M.D., Ph.D., University of Colorado Denver (Aurora, CO); The role of serotonin signaling in the pathogenesis of alveolar capillary dysplasia

For the study of appendix cancer and pseudomyxoma peritonei (PMP), with funding from the Appendix Cancer/Pseudomyxoma Peritonei Research Foundation

Shyh-Dar Li, Ph.D., University of British Columbia (Vancouver, Canada); Modulation of tumor immune microenvironment for enhanced therapy of pseudomyxoma peritonei
Konstantinos Votanopoulos, M.D., Ph.D., Wake Forest University (Winston-Salem, NC); Immune system enhanced appendiceal cancer organoids for ex vivo determination of immunotherapy efficacy in appendiceal cancer

For the study of familial hypercholesterolemia, with funding from the estate of Eleanor M. Allen

Richard Sherwood, Ph.D., Brigham and Women's Hospital (Boston, MA); Optimizing predictable CRISPR/Cas9 repair of LDLR frameshift mutations

For the study of cat eye syndrome, with funding from the Kate Obstgarten Family Foundation, Lundbeck and public donations

Thomas Liehr, Dr. rer. nat./med. habil/h.c., Friedrich Schiller University Jena (Jena, Germany); Establishment of next-generation phenotyping in cat eye syndrome patients

For the study of malonic aciduria, with funding from The Hope Fund

Anthony J. Filiano, Ph.D., Duke University (Durham, NC); Replacing brain enzymes with cells Implications for malonic aciduria
Michael Wolfgang, Ph.D., Johns Hopkins University School of Medicine (Baltimore, MD); Genetic and biochemical interaction of Mlycd and Acsf3 in vivo

For the study of new-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES), with funding from the NORSE Institute

Eric Payne, M.D., M.P.H. and Charles Howe, Ph.D., Mayo Clinic (Rochester, MN); NLRP3 inflammasome dysfunction as a cause for FIRES and NORSE

For the study of PACS1-related syndrome (Schuurs-Hoeijmakers syndrome), with funding from the founders of the PACS1 Syndrome Research Foundation and public donations

Gary Thomas, Ph.D., University of Pittsburgh (Pittsburgh, PA); Development of therapeutics to treat PACS1-related syndrome

For the study of post-orgasmic illness syndrome, with funding from POISCenter.com

Tierney Lorenz, Ph.D., University of Nebraska-Lincoln (Lincoln, NE); Autonomic, endocrine, and immune mediators of post-orgasmic illness syndrome

NORD's Rare Disease Research Grant Program provides funding to qualified researchers for translational or clinical studies related to the development of potential new diagnostics or treatments for rare disease. Since the program's launch in 1989, NORD grants have led to the development of two FDA-approved treatments and numerous peer-reviewed publications.

We are celebrating the 30th anniversary of NORD's Research Grant Program by continuing to support research that reflects community-driven priorities, said Vanessa Boulanger, NORD's Director of Research Programs. Providing researchers with an opportunity to expand the breadth and depth of their scientific reach in the pursuit of novel findings for rare disorders is a cornerstone of NORD's mission.

Grants are made possible through the generosity of allies in the rare disease community and supporters who have donated into NORD's research fund. For more information about NORD's Rare Disease Research Grant Program and funding opportunities, visit http//rarediseases.org/research.

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NORD Awards Ten New Grants in Eight Disease States for Rare Disease Research


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