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2016 ; 4
(1
): e1241362
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Canine models of human rare disorders
#MMPMID27803843
Hytönen MK
; Lohi H
Rare Dis
2016[]; 4
(1
): e1241362
PMID27803843
show ga
Millions of children worldwide are born with rare and debilitating developmental
disorders each year. Although an increasing number of these conditions are being
recognized at the molecular level, the characterization of the underlying
pathophysiology remains a grand challenge. This is often due to the lack of
appropriate patient material or relevant animal models. Dogs are coming to the
rescue as physiologically relevant large animal models. Hundreds of spontaneous
genetic conditions have been described in dogs, most with close counterparts to
human rare disorders. Our recent examples include the canine models of human
Caffey (SLC37A2), van den Ende-Gupta (SCARF2) and Raine (FAM20C) syndromes. These
studies demonstrate the pathophysiological similarity of human and canine
syndromes, and suggest that joint efforts to characterize both human and canine
rare diseases could provide additional benefits to the advancement of the field
of rare diseases. Besides revealing new candidate genes, canine models allow
access to experimental resources such as cells, tissues and even live animals for
research and intervention purposes.
free
free
free
