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

WASHINGTON, May 19, 2020 /PRNewswire/ — The National Organization for Rare Disorders (NORD®) has announced new awards through its Rare Disease Research Grant Program, which provides funding to qualified researchers for translational or clinical studies related to the development of 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.

Eleven new research grants have been given to the following institutions and investigators:

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

• • Frances Flanagan, MBBCh, BAO, Boston Children’s Hospital (Boston, MA); Genetic Determinants of ACD/MPV

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

• • Oliver S. Eng, MD, The University of Chicago (Chicago, IL); Assessment of the Effects of HIPEC on the Genetic Landscape of Peritoneal Metastases from High Grade Appendiceal Neoplasms
  • Kjersti Flatmark, MD, PhD, Oslo University Hospital (Oslo, Norway); ctDNA for Monitoring Patients with Pseudomyxoma Peritonei

For the study of autoimmune polyglandular syndrome type 1 (APS-1), with funding from the APS Type 1 Foundation:

• • Rachid Tazi-Ahnini, PhD, The University of Sheffield (Sheffield, UK); Developing Gene Therapy for Autoimmune Polyglandular Syndrome Type 1

For the study of biliary atresia, with funding from DataRevive LLC:

• • Michael A. Pack, MD, Perelman School of Medicine, University of Pennsylvania (Philadelphia, PA); Targeting Protein Quality Control Pathways to Treat Biliary Atresia
  • Sarah A. Taylor, MD, Ann & Robert H. Lurie Children’s Hospital of Chicago | Northwestern University School of Medicine (Chicago, IL); Transcriptional Profiling of Hepatic Macrophages to Predict Patient Outcomes in Biliary Atresi

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

• • Jiping Yue, PhD, The University of Chicago (Chicago, IL); Development of Epidermal Progenitor Cell-based Therapy for Malonic Aciduria

For the study of neuroendocrine cell hyperplasia of infancy (NEHI), with funding from the NEHI Research Foundation:

• • Joseph Shieh, MD, PhD, University of California San Francisco (San Francisco, CA); Analysis of NEHI Susceptibility Using Informatic Technologies

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

• • Ingo Helbig, MD, Children’s Hospital of Philadelphia (Philadelphia, PA); Beyond Negative Exome – Understanding the Genetics of FIRES
  • Claude Steriade, MD and Deepak Saxena, MD, New York University School of Medicine (New York, NY); Gut Microbiome Alterations as a Mechanism of Immune Dysregulation in New Onset Refractory Status Epilepticus

For the study of primary orthostatic tremor, with funding from public donations:

• • Robert Chen, MA, MB BChir, MSc, Krembil Brain Institute, University Health Network (Toronto, Canada); Modulating Dysfunctional Cerebellar Activity with Low-intensity Focused Ultrasound Stimulation for Primary Orthostatic Tremor

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