Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004

National Institute of Biomedical Imaging and Bioengineering (NIBIB)

Overview of Rare Diseases Research Activities

The mission of the National Institute of Biomedical Imaging and Bioengineering (NIBIB) is to improve human health by leading the development and accelerating the application of biomedical technologies. The Institute is committed to integrating the physical and engineering sciences with the life sciences to advance basic research and medical care. The Institute works to achieve this mission by supporting research that has broad applicability across disease or organ lines.

The NIBIB funds research on rare diseases through its extramural programs via grant solicitations, although the Institute’s primary support of research is through unsolicited, investigator-initiated grant awards. Rare disease research funded in FY 2004 includes adrenal carcinoma, aortic valve disease, Barrett's syndrome, basal cell carcinoma, bladder cancer, bone dysplasia, brain tumor, congenital adrenal, congenital heart disorders, hyperplasia, Cushing's syndrome, cystic fibrosis, glaucoma, glioblastoma, Huntington's disease, macular degeneration, Marfan syndrome, Niemann-Pick disease, renal disease, respiratory distress syndrome, and sudden infant death syndrome.

Highlighted below are some of NIBIB’s activities related to treating and preventing rare diseases and conditions that fall within the purview of the Institute’s mission.

Recent Scientific Advances in Rare Diseases Research

Niemann-Pick Disease Type C

Niemann-Pick disease type C (NP-C) is a genetic pediatric neurodegenerative disorder that causes progressive deterioration of the nervous system. This metabolic disorder leads to a series of neurological problems that are ultimately fatal. This disorder affects an estimated 500 children in the United States. The disease is autosomal recessive and is inherited when a child receives two mutant genes, one from each parent. In NP-C, cholesterol derived from low-density lipoprotein accumulates in cells of the brain, liver, spleen, lungs, and bone marrow. This leads to an enlarged spleen and liver, poor muscle control, impaired eye movements, slurred speech, and dementia. NIBIB researchers have recently used magnetic resonance imaging (MRI) techniques to generate quantifiable images and data to discriminate NP-C mice from normal mice. Researchers now plan to investigate the two organ systems that are most affected by the disease, the brain and liver. The goal of the research is to develop MRI methods that monitor the progression of NP-C and drug therapies in mice that can then be applied for use in human patients.

Bladder Cancer

Bladder cancer is the sixth most common cancer in the United States. Approximately 53,200 people are diagnosed with bladder cancer each year. Gene therapy, a technique for correcting defective genes responsible for disease development, has demonstrated some success in inhibiting bladder cancer tumor growth. The current method, intravesicular BCG therapy, augments local production of immune mediators of tumor clearance. However, BCG therapy has no effect on 20 percent of patients with bladder cancer. NIBIB researchers have found a less virulent gene vector, mycobacterium smegmatis, that can deliver eukaryotic expression plasmids to mammalian cells, and for the first time, can deliver plasmids expressing the green fluorescent protein from a eukaryotic promoter to macrophages. Researchers now plan to use this discovery to engineer a new anti-tumor therapy for bladder cancer that is safer and more efficient than the current method.

One of the greatest challenges to successful treatment of bladder cancer is early detection and staging. Optical coherence tomography (OCT), a noninvasive imaging device, is used for imaging of in vivo bladder tissue structure and blood flow simultaneously. Research has shown that OCT can distinguish between normal and cancerous bladder cells. NIBIB researchers are now developing an improved OCT imaging device that integrates arrays of optoelectronic sources, detectors, and micro electronic processing and control systems. This will allow for more rapid, high-quality imaging that can lead to improved diagnosis of bladder cancer.


Glaucoma is the leading cause of blindness in the United States. It is a disease of the optic nerve, the part of the eye that carries images to the brain. When damage to the optic nerve fibers occurs, blind spots develop. Blindness can occur if the blind spots go undetected and significant damage to optic nerve occurs. However, medical advances have made it easier to diagnose and treat glaucoma. NIBIB researchers have developed new high-frequency ultrasound systems that provide new opportunities to advance tissue evaluation in the anterior segment of the eye. This technique allows research to develop a two-dimensional map of blood flow in the anterior segment of the eye, providing important information in the staging and diagnosis of glaucoma.


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Last Reviewed: July 22, 2005