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Recent Grant Recipients

Recipients of research grants from NORD

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:

2013

2012

2011

2010

2009

2008

2007

 


NORD 2013 GRANT RECIPIENTS

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of nine research grants in December 2013.  The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Adult Primary Lateral Sclerosis (PLS)

(Made possible by donations from the patient community and a grant from Lundbeck, Inc.)

Catherine Lomen-Hoerth, M.D., Ph.D.

University of California, San Francisco
The Efficacy of Intrathecal Baclofen for Spasticity of Primary Lateral Sclerosis

Dubowitz Syndrome

(Made possible by donations from the patient community and a grant from Lundbeck, Inc.)

Two awards:

Zhiyuan Shen, M.D., Ph.D.

Rutgers Cancer Institute of New Jersey
Identification of the Genetic Defects in Dubowitz Syndrome

A. Micheil Innes, M.D., FRCPC

Faculty of Medicine, University of Calgary
Establishing a Framework to Facilitate Phenotypic Delineation and Gene Identification in Dubowitz Syndrome

Glycine Encephalopathy (Nonketotic Hyperglycinemia)

(Made possible by donations from the patient community)

Johan Van Hove, M.D., Ph.D.

University of Colorado, Denver
Variant Nonketotic Hyperglycinemia: From Genetic Diagnosis to Curative Treatment

Growth Failure in Children with Cardiofaciocutaneous Syndrome (CFC)

(Funded by the patient group, CFC International)

Pilar L. Magoulas, M.S., C.G.C.

Baylor College of Medicine
Growth Assessment in Individuals with CFC Syndrome

Post-Orgasmic Illness Syndrome (POIS)

(Funded by the patient group, the POIS Forum)

Barry R. Komisaruk, Ph.D.

Rutgers University
Is POIS a case of Vagal Dystonia?: An fMRI Brain Activity Analysis

Pseudomyxoma Peritonei (PMP)

(Funded by the patient group, PMP Research Foundation)

Three awards:

Andrew M. Lowy, M.D.

Moores Cancer Center
University of California, San Diego
Targeting Core Signaling Networks in Mucinous Adenocarcinoma of the Appendix

Peter Thomas, Ph.D.

Creighton University
Carcinoembryonic Antigen – A Pro-Angiogenic Factor in Pseudomyxoma Peritonei – is a Potential Target for Therapy

Venkatesh Govindarajan, Ph.D.

Creighton University
PMP: Biologic Foundations for New Treatment Options

 


 

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

 
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