Institute on Aging (NIA)
Overview of NIA Rare Diseases in Children Research
Activities, FY 2000FY 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
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