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Report on Research on Rare Diseases in Children: FY 2000 to FY 2005

National Institute on Aging (NIA)

Overview of NIA Rare Diseases in Children Research Activities, FY 2000–FY 2005

NIA conducts and supports biomedical, social, and behavioral research, training, health information dissemination, and other programs with respect to the aging process. Although NIA does not focus on rare diseases per se, certain rare conditions/diseases are studied as they relate to the process of aging or the diseases of aging. Of particular interest are progeroid syndromes such as Werner's syndrome, Bloom's syndrome, and Cockayne's syndrome that have implications for age-related diseases.

Recent Scientific Advances in Rare Diseases in Children Research

Friedreich's Ataxia (FRDA)

FRDA is a disorder that usually manifests before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. The triad of 1) hypoactive knee and ankle jerks, 2) signs of progressive cerebellar dysfunction, and 3) preadolescent onset is commonly regarded as sufficient for diagnosis.

NIA grantee Dr. Grazia Isaya has been studying the function of frataxin, the protein that is defective in FRDA. Dr. Isaya has validated the use of the yeast Saccharomyces cerevisiae to study this disease by showing that the human frataxin gene can replace a defective frataxin homolog in yeast. Furthermore, Dr. Isaya has made the seminal observation that frataxin is an iron-binding protein. The project period for Dr. Isaya's research is 1997-2001.

Another NIA investigator, Dr. Gino Cortopassi, has demonstrated that fibroblasts from FRDA are sensitive to oxidative stress, and that this stress may be rescued by iron chelators. The project period for Dr. Cortopassi's ongoing research is 1993-2005. Dr. Cortopassi plans to characterize the type of damage that occurs to the mitochondria at a molecular level to evaluate the physiological endpoints and to attempt to rescue the damaged cells by inhibiting the damage-causing pathway.


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Last Reviewed: February 1, 2005
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