Recent Grant Recipients
Rare disease research is rarely a priority, and the NORD Research Grant Program exists to encourage the study of diseases for which there may be few or no other sources of funding. Recent recipients of NORD research grants are listed below.
Two previous award recipients have recently had the manuscripts of the NORD-funded studies published. Read the studies from the European Journal of Haematology and Nature Medicine.
View the Recipients from:
NORD 2012 Grant Recipients
NORD's Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of five research grants in May 2012 and seven additional grants in November 2012. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:
Alveolar Capillary Dysplasia
(Funded by the patient groups, Alveolar Capillary Dysplasia Foundation and The David Ashwell Foundation)
Two awards:
Partha Sen, PhD
Baylor College of Medicine
To Investigate the Role of FOXF1 in Lung Development, Particularly with Respect to Alvelar Capillary Dysplasia and Misalignment of Pulmonary Veins
Przemyslaw Szafranski, PhD
Baylor College of Medicine
Long Noncoding RNAs as Potential Diagnostic and Therapeutic Targets in Patients with Alveolar Capillary Dysplasia
APS Type 1 (Autoimmune Polyendocrine Syndrome, Type 1)
(Funded by the patient group, APS Type 1 Foundation)
Anthony Shum, MD, Mickie H. Cheng, MD, PhD, Mark S. Anderson, MD, PhD
University of California, San Francisco (UCSF Diabetes Center)
In conjunction with:
Eystein S. Husebye, MD, PhD
University of Bergen, Norway
Development of Pre-Clinical tools for the Diagnosis and Management of APS Type 1
Congenital Hyperinsulism in Neonates and/or Children
(Funded by the Mario Batali Foundation)
Diva de León, MD
Children’s Hospital of Philadelphia
The Effect of GLP-1 Receptor Antagonism on Protein-Induced Hypoglycemia in KATPHI
Primary Immune Thrombocytopenia in Adults
Nichola Cooper, MD
Imperial College, London, UK
Redefining the Autoimmune Response in Primary ITP
Pseudomyxoma Peritonei
(Funded by the patient group, PMP Research Foundation)
Two awards:
EdwardA. Levine, MD
Wake Forest University
Genomic analysis of Pseudomyxoma Peritonei and Cancer of the Appendix
Shegeki Sekine, MD, PhD
National Cancer Center Researcher Institute, Tokyo, Japan
Significance of a Novel Genetic Alteration in Pseudomyxoma Peritonei
Congenital Skeletal Abnormalities Associated with Cat Eye Syndrome or Other Rare Chromosomal Disorders
Two one-year awards:
Kerby C. Oberg, MD, PhD
Associate Professor
Divisions of Human Anatomy and Pediatric Pathology
Loma Linda University, California
Characterization of the Lmx1b Regulatome During Limb Abnormalities
Francesa Mariani, PhD
Assistant Professor
Broad Center for Regenerative Medicine and Stem Cell Research, Department of Cell and Neurobiology
University of Southern California
Molecular Basis of Split Hand-Foot Malformations (SHFMs)
Primary Orthostatic Tremor
(funded by the group OT Resource)
Two one-year awards:
Sabine Meunier, MD, PhD
Neurologist, Senior Researcher
Movement Disorders Clinic, Pitié-Salpêtrié Hospital
Paris, France
Is Cerebellum a Potential Therapeutic Target for Primary Orthostatic Tremor?
Julian Rodrigues, MBBS, FRACP
Australian Neuromuscular Research Institute
Perth, Western Australia
Pregabalin for the Treatment of Primary Orthostatic Tremor
Tarlov Cyst Disease
(Funded by the Tarlov Cyst Disease Foundation)
One one-year grant:
Kieran Murphy, MB, BCh, FRCPC, FSIR **Principal Investigator
Professor & Vice Chair, Medical Imaging
Deputy Chief, Medical Imaging, University Health Network,Mt Sinai Womens' Hospital
Director, International Medical affairs, University Health Network, Toronto Western Hospital
University of Toronto, Ontario, Canada
A Genetic Analysis of Patients with Tarlov Cyst Disease
Co-Investigators:
Chantal Morel, MD, FRCPC, FCCMG
Clinical and Metabolic Geneticist
Assistant Professor
University Health Network/ Mount Sinai Hospital
Toronto, Ontario, Canada
Jordan Lerner-Ellis, PhD, FACMG
Director, Laboratory for Advanced Molecular Diagnostics, Mount Sinai Hospital
Assistant Professor, University of Toronto
Department of Laboratory Medicine and Pathobiology
Toronto, Ontario, Canada
Aaron Goldman, PhD
Director, Research Project Portfolio
Clinical Genomics Center -- Gene Profiling Facility
Samuel Lunenfeld Research Institute
Mount Sinai Hospital
Toronto, Ontario, Canada
Josh Silver, MSc, CGC, CCGC
Certified Genetic Counselor
Fred A. Litwin Family Centre in Genetic Medicine
University Health Network / Mount Sinai Hospital
Toronto, Ontario, Canada
NORD's Medical Advisory Committee is in the process of reviewing five other Requests for Proposals 2012 through its international clinical research program (see Requests for Proposals/NORD Funding Opportunities for 2012).
NORD 2011 Grant Recipients
NORD's Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in December, 2011. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:
Adenoid Cystic Carcinoma (ACC)
Funded in part by the patient group, Adenoid Cystic Carcinoma Organization International
Diana Bell, MD
MD Anderson Cancer Center
Houston, TX
Comparative Analysis of the Biological and Molecular Differences in Microdissected Myoepithelial and Epithelial Cells in Adenoid Cystic Carcinoma
Corticobasal Degeneration
Henry Houlden, MD, PhD
The National Hospital for Neurology and Neurosurgery
Queen Square
London, UK
Next Generation Sequencing and mRNA Expression in Corticobasal Degeneration to Improve diagnosis and Developing an Expression-Based Biomarker
Diffuse Scleroderma/Systemic Sclerosis
Silvia Laura Bosello, MD, PhD
Catholic University of Sacred Heart, Complesso Integrato Columbus
Rome, Italy
B-Cells in Systemic Sclerosis: From Pathogenesis to Therapy
Pseudomyxoma Peritonei (PMP) three grants
Funded by the patient group, PMP Research Foundation)
Marcello Deraco, MD
Fondazione IRCSS Instituto Nazionale Tumore (National Cancer Institute)
Milano, Italy
Pseudomyxoma Peritonei: Prognostic Analysis of Micro-RNA and Other Biological Factors Using Tissue Microarray
Andrew M. Lowy, MD
University of California, San Diego
Sequencing the Cancer Genome of Mucinous Adenocarcinoma of the Appendix
Andrew G. Renehan, MB ChB, PhD
University of Manchester, The Christie NHS Foundation
Manchester, UK
Preclinical Targeting of the Goblet Cell Differentiation Pathway in Pseudomyxoma Peritonei
Trimethylaminuria
One award, funded by the patient group, Trimethylaminuria Foundation
Danielle R. Reed, PhD/ George Preti, PhD
Monell Chemical Senses Center
University City Science Center
Philadelphia, PA
Revisiting TMAU Through Exome Sequencing
NORD 2010 Grant Recipients
NORD's Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of six research grants in November 2010. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:
Autoimmune Polyglandular Syndrome (APS) Type 1
Funded by the patient organization APSType1.org
Mark S. Anderson, MD, PhD; Mickie Cheng, MD, PhD; Anthony Shum, MD
Diabetes Center, University of California/San Francisco Novel Translational Biomarkers in the Diagnosis and Management of APS Type 1
Homocystinuria, Due to Cystathione Beta-synthase Deficiency
Ruma Banerjee, PhD
University of Michigan School of Medicine, Ann Arbor
Hydrogen Sulfide and Homocystinuria
Larsen Syndrome
Robert M. Campbell, Jr, MD; John P. Dormans, MD,
Children's Hospital of Philadelphia
Larsen Syndrome: Risk Factors for Thoracic Insufficiency Syndrome
Pseudomyxoma Peritonei
Three awards, funded by the patient organization, PMP Research Foundation
Zong Sheng Guo, PhD
University of Pittsburgh Cancer Institute
Treating Pseudomyxoma Peritonei Using Small Molecule Inhibitors of Gel-forming Mucin Production
Robert Miller, MD; Aaron A. Mansfield, MD; Â Julian Molina, MD, PhD; Fernando Quevedo, MD
Mayo Clinic, Rochester, MN
Translational Biology of Pseudomyxoma Peritonei
Brendan Moran, MD, FRCS; Alex Mirzezami, MD, PhD, FRCS
National Pseudomyxoma Peritonei Center
Basingstoke and North Hampshire Hospital, NHS Trust Foundation, Basingstoke, UK
Cancer Research UK Center
Southampton General Hospital, Southampton, UK
MicroRNA Profiling of Clinically Different Pseudomyxoma Peritonei Phenotypes
Stiff Person Syndrome
Made possible by donations from the patient community and a grant from Lundbeck, Inc.
Eric Lancaster, MD, PhD
University of Pennsylvania
Auto-Antigen Profiling in Stiff Person Syndrome
NORD 2009 Research Grant Recipients
NORD's Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in November 2009. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:
Arteriovenous Malformation
Susan Y. Bookheimer, PhD; Neil Martin, MD
UCLA School of Medicine, Center for Cognitive Neurosciences
Los Angeles, California
Mapping Language Reorganization in AVM Patients with fMRI and Intraoperative Corticography
Essential Thrombocythemia
Alison R. Moliterno, MD
Johns Hopkins University School of Medicine, Baltimore, Maryland
Genetic Basis of Essential Thrombocytosis
Olivopontocerebellar Atrophy
Two awards
Puneet Opal, MD
Northwestern University, Chicago, Illinois
Cellular Basis of SCA1
Jeremy D. Schmahmann, MD
Massachusetts General Hospital, Boston, Massachusetts
Diffusion MRI Biomarkers of Cerebellar Circuits and Connections in SCA1 Mouse
Pseudomyxoma Peritonei
Three awards, with funding by the PMP Research Foundation
Marc Pocard, MD PHD (In Honor Of Mel R.Kurtz)
The National Institute of Medical Research
Angiogenesis and Translational Research Department
Paris, France
Development of Animal Models for the Study of Pseudonyxome and Evaluation of the Role of Anti-Angiogenesis in the Control of this Tumor.
Andrew Renehan, MD (In Honor Of Dutch Culbertson and Jerry Lewandowski)
The Christie NHS Foundation Trust, University of Manchester
Manchester, United Kingdom
The Development and Global Gene Characterization of an Immortalized Pseudomyxoma Peritonei Cell Culture System for Pre Clinical Testing of Anti-tumor Therapies
Herbert J. Zeh III (In Honor Of Dutch Culbertson and Jerry Lewandowski)
University of Pittsburgh Medical Center
Pittsburg, Pennsylvania
Clonal Analyses of Pseudomyxoma Peritonei (PMP) to Identify Novel Targets for Personalized Therapy
NORD 2008 Research Grant Recipients
NORD's Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in November 2008. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:
Alveolar Capillary Dysplasia
Partha Sen, PhD
Baylor College of Medicine
Genotyping and VEGF188 Expression Study for Further Understanding of the Molecular Basis and Pathophysiology of ACD
Autoimmune Polyglandular Syndrome (APS) Type 1
Two grants, with funding from APSType1.org
Daniela Cihakova, MD, PhD
Johns Hopkins University
Chronic Candidiasis Develops in the Absence of Normal Aire Function Due to a Defect in the Induction of IL-17 by Dendritic Cells
Matthias Wabl, PhD
University of California, San Francisco
Hypermutation as a Cause of Autoimmunity in Aire Deficiency
Olivopontocerebellar Atrophy and Related Disorders
Two grants
Henry Houlden, MD, PhD
Institute of Neurology, London
The Identification and Characterization of Disease Genes and Risk Factors that Predispose to Multiple System Atrophy (MSA)
Puneet Opal, MD, PhD
Northwestern University
Molecular Pathways Underlying SCA1 Degeneration
Tarlov Cysts
With funding from the Tarlov Cyst Disease Foundation
Anne Louise Oaklander, MD, PhD
Massachusetts General Hospital/Harvard Medical School
Early Detection of Risk Factors for Tarlov Cysts and Their Complications
Tyrosinemia Type 1
With support from JoshuasCure.org and Danielle Barckett Fund
Eugene Swenson, MD, PhD
Yale University School of Medicine
Bone Marrow Mesenchymal Stem Cell Transplantation for Hereditary Tyrosinemia Type 1
NORD 2007 Research Grant Recipients
NORD's Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in November 2007. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:
Cat Eye Syndrome
Heather McDermid, PhD
University of Alberta, Canada
Understanding Cat Eye Syndrome by the Development of a Mouse Model
Hereditary Tyrosinemia
Robert M. Tanguay, DSc
Université Laval, Canada
Gene Expression and Liver Cancer in Herditary Tyrosinemia
Kearns Sayre Syndrome
Ronald G. Haller, MD
University of Texas Southwestern Medical Center
Mitochondrial Aconitase: a Measure of Oxidative Stress in Kearns Sayre Syndrome.
Thrombotic Thrombocytopenic Purpura
Mary Ann Knovich, MD
Wake Forest University Health Sciences
Rapid determination of ADAMTS13 Activity and Inhibitiors in Patients with Suspected Thrombotic Thrombocytopenic Purpura
Adenoid Cystic Carcinoma
Christopher Moskaluk, MD, PhD
University of Virginia
Prediction of Chemotherapy Response in Adenoid Cystic Carcinoma by Gene Expression Profiling
SCA 1
Punett Opal, MD, PhD
Northwestern University
Molecular Basis of SCA 1
Moyamoya Syndrome
Mustafa Sahin, MD, PhD
Children's Hospital of Boston
Genome Wide Linkage Analysis of Moyamoya Syndrome Using High Density Single Nucleotide Polymorphism (SNP) Genotyping Arrays
Sarah Ying, MD
Johns Hopkins University School of Medicine
A Novel Clinical and Research Tool for the Diffusion-Tensor Magnetic Resonance Imaging Evaluation of Coherent White Matter Tracts in the Brainstem and Cerebellum
