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NORD Awards New Research Grants for Rare Disease Research

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Washington, D.C.—February 24, 2017—The National Organization for Rare Disorders (NORD), the leading independent, nonprofit organization committed to the identification, treatment, and cure of rare disorders, has awarded seven new research grants to fund rare disease research.

Research grants awarded for 2016 Requests for Proposals include:

For the study of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV), with support funding raised by The David Ashwell Foundation and The Alveolar Capillary Dysplasia Association:

  • Przemyslaw Szafranski, PhD, Baylor College of Medicine, Houston, TX, Modeling ACDMPV therapies by targeting negative regulators of FOXF1 and genes outside the SHH pathway.

For the study of Appendix Cancer and Pseudomyxoma Peritonei (PMP), with support funding raised by the Appendix Cancer Pseudomyxoma Peritonei Research Foundation:

  • Venkatesh Govindarajan, PhD, Creighton University, Omaha, NE, Targeting the MEK-ERK pathway as a therapeutic option for Pseudomyxoma peritonei.
  • David L. Morris, MD, PhD, St George Hospital, Australia, The effect of Bromelain and N-acetylcysteine on appendiceal adenocarcinoma and pseudomyxoma peritonei in vitro and LS174T in vivo: development of a novel mucolytic agent and progression to a phase I/II study.

For the study of Autoimmune Polyglandular Syndrome Type 1 (APS Type 1), with support funding raised by the APS Type 1 Foundation:

  • Maureen A. Su, MD, University of North Carolina at Chapel Hill, Chapel Hill, NC, Thymus transplantation for APS1.

For the study of Homocystinuria due to Cystathionine Beta-Synthase Deficiency, with support funding raised from public donations:

  • Warren D. Kruger, PhD, The Research Institute of Fox Chase Cancer Center, Philadelphia, PA, Combining Bimoclomol and Bortezomib to treat CBS deficiency.

For the study of Malonic Aciduria, with support funding raised by The Hope Fund, Lundbeck “Raise Your Hand” Campaign, and public donations:

  • Michael J. Wolfgang, PhD, Johns Hopkins University School of Medicine, Baltimore, MD, Regulation of mitochondrial metabolism by Malonyl-CoA Decarboxylase and Malonyl-CoA Synthetase.

For the study of Stiff Person Syndrome, with support funding raised by the Lundbeck “Raise Your Hand” Campaign and public donations:

  • Sarah Crisp, MB Bchir, PhD, University College London, United Kingdom, Identification of Pathogenic Autoantibodies in Stiff Person Syndrome.

NORD will be announcing the 2017 requests for proposals in short order. Researchers who are interested in applying should visit NORD’s website:

Grants are made possible by allies of the rare diseases community that have generously supported research in rare diseases by donating to a NORD research fund.  After funds mature, NORD issues research requests for proposals, which are then independently reviewed by NORD’s Medical Advisory Committee.  Over the years, NORD grants have led to the development of two FDA-approved treatments and numerous journal articles.

There are nearly 7,000 rare diseases that affect 30 million Americans (1 in 10 nationwide)—the majority of whom are children—yet less than 5 percent of rare diseases have an FDA-approved treatment.

NORD made the announcement in advance of Rare Disease Day® 2017, which is scheduled to take place on February 28.  Rare Disease Day is an annual awareness day celebrated around the world on the last day of February.  It is dedicated to improving public understanding of rare medical conditions and drawing attention to the special challenges that people with rare diseases face.  The theme of this year’s Rare Disease Day is “research” and the hope that it brings to millions of people.  NORD serves as the official host of Rare Disease Day in the U.S. and works with 37 national alliances around the world to make the international campaign possible.


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