Research

Research Grant Program

NORD’s Research Grant Program provides seed money in small grants to academic scientists studying new treatments or diagnostics for rare diseases. The clinical researchers supported by NORD’s research grants provide preliminary data indicating that a treatment (drug, device, or medical food) may be safe and effective when used for a larger number of patients. Researchers can then use the preliminary data to apply for larger multi-year government grants or to attract a commercial sponsor who will manufacture an orphan product and get it approved for marketing by the U.S. Food & Drug Administration (FDA).

September 2003 Research Awards:

NORD wishes to congratulate and acknowledge the individuals, families, organizations and companies who, through their generosity and commitment, have made these eleven research projects possible.

NORD Research Award for Adenoid Cystic Carcinoma

Frank Ondrey, MD, PhD
University of Minnesota
Minneapolis, MN
Funding: 1 Year
Dr. Ondrey's study involves the use of drugs currently used for diabetes treatment. Dr. Ondrey hopes to discover whether adenoid cystic carcinoma cells can be forced to go through a maturation process that will not allow them to continue to spread. He hopes that this information will lead to a new treatment for ACC.

NORD Research Award for Cat Eye Syndrome

Christa Lese Martin, PhD
Emory University
Atlanta, GA
Funding: 1 Year
Dr. Martin will study patients with limited phenotypic features of cat eye syndrome, a genetic disorder caused by an abnormality involving band q11 on chromosome 22. Dr. Martin's study will examine the role of interstitial duplications of 22q11 in patients with limited phenotypic features of cat eye syndrome including colobomas (an eye defect), developmental delay and dysmorphic features. The goal of this study is to determine whether submicroscopic duplications of this chromosomal region can explain some patients' phenotypes that, as yet, have been undiagnosed.

NORD Research Award for Larsen Syndrome

John M. Graham, Jr. MD
Cedars-Sinai Medical Center
Los Angeles, CA
Funding: 1 Year
The aims of Dr.Graham's study are to develop a systematic comparison of the clinical characteristics, radiographic manifestations, and neuroimaging findings of individuals with Larsen syndrome to differentiate the dominant and recessive phenotypes, establish objective diagnostic criteria, and formulate health maintenance recommendations; establish an LS registry for long-term LS subject recruitment and sample collection; create an LS website providing information on LS to affected individuals, family members, and healthcare providers.

NORD/NBIA Disorders Association Research Awards for
Neurodegeneration with Brain Iron Accumulation (Hallervorden-Spatz Syndrome)

Natalie Canham, MB
University of Birmingham
UK
Funding: 1 year
Dr. Canham of Birmingham University's Section of Medial and Molecular Genetics will look for the gene responsible for a variant form of neurodegeneration with brain iron accumulation. Dr. Canham's goal is to find mutations in the gene to be able to offer genetic testing to members of families affected by this condition. In the long term, such information will provide an understanding into the causes of NBIA.

Susan J. Hayflick, MD
Oregon Health & Science University
Portland, OR
Funding: 1 Year
Dr. Hayflick's project will study rationale therapies for pantothenate kinase-associated neurodegeneration (PKAN). PKAN is a genetic neurodegenerative disorder of children and adults with dystonia, retinopathy and high brain iron. Potential therapies will be investigated through fruitfly and mouse models of this disease. These studies will serve as a foundation for future research into treating humans with PKAN.

NORD Research Awards for Olivopontocerebellar Atrophy (OPCA) and Related Diseases

Zoran Brkanac, MD
University of Washington
Seattle, WA
Funding: 2 Years
Dr. Brkanac will work toward identifying a gene for autosomal dominant sensory/motor neuropathy with ataxia (SMNA). SMNA is a novel disease affecting multiple parts of the neurologic system, resulting in cerebellar atrophy, sensory loss and neurogenic muscular atrophy. The gene has been localized by linkage analysis to the long arm of chromosome 7. A combination of bioinformatics and molecular biology techniques will be used to identify the SMNA gene. Identification of the gene will facilitate genetic testing and has the potential to lead to novel therapies.

Dong-Hui Chen, MD, PhD
University of Washington
Seattle, WA
Funding: 2Years
Dr. Chen previously demonstrated that protein kinase C gamma (PKCgamma) is the gene that causes autosomal dominant spinocerebellar ataxia 14 (SCA14). Dr. Chen will study in vitro the effects of mutations on the function of PKCYgamma in order to understand the neurodegeneration that occurs in SCA14. Protein kinases serve important control functions in cellular pathways to metabolism, proliferation and differentiation. Because kinase genes are good targets for pharmacologic modulation, this study has the potential to identify new avenues for therapies for SCAs.

Lap Ho, PhD
Mount Sinai School of Medicine
New York, NY
Funding: 1 Year
Dr. Ho's project is to identify OPCA biomarker proteins from serum and CSF of sporadic and inherited cases, and to extensively characterize the regulation of these biomarkers in OPCA with respect to disease progression and, specifically, to the disease. Information from this study will provide predicative criteria for improved early diagnosis of OPCA and monitoring disease progression.

Tohru Matsuura, MD
Baylor College of Medicine
Houston, TX
Funding: 2 Years
Dr. Matsuura will develop new techniques to detect the mutation of spinocerebellar ataxia type 10 (SCA10) effectively. SCA10 is a rare form of dominantly inherited ataxia caused by large expansion of a pentanucleotide repeat on chromosome 22. Dr. Matsuura seeks to improve the diagnostics of SCA10 and find the true prevalence of SCA10 in multiethnic ataxia patients.

Kyoko Tsuboi, PhD
Veterans Medical Research Foundation
San Diego, CA
Funding: 2 Years
Dr. Tsuboi will study the mechanisms in multiple system atrophy (MSA), using an in vitro model. MSA is a progressive neurological diorder of unknown etiology, characterized by ataxia, parkinsonism, and autonomic impairment. In MSA, cell death and pathological hallmark are exclusively found in one phenotype of cells. Dr. Tsuboi will investigate how a specific protein (?-synuclein) affects cell death in oligodendrocytes in MSA.

NORD Research Award for Primary Lateral Sclerosis

Kevin Talbot, MB
University of Oxford
Oxford, England
Funding: 1 Year
Dr. Talbot of Oxford University will study patients with the rare neurodegenerative disorder primary lateral sclerosis (PLS) using new magnetic resonance imaging technologies developed in Oxford. This will allow an assessment of the progress of the disease and, it is hoped, will allow trials of treatments in PLS patients. PLS is a form of motor neuron disease, related to ALS (Amyotrophic Lateral Sclerosis or Loe Gehrig's Disease) but with a number of atypical features, including slower progression and absence of muscle wasting. Its cause is unknown and there are currently no treatments.

Researchers may receive notification of future funding opportunities by submitting a complete mailing address to nwoodage@rarediseases.org.

For information on initiating a research project click here to read NORD's Research Program Policy