Award
NIH Reporter #5R01AR078149-05
Mechanisms and Treatment of Hajdu Cheney Syndrome
Recipient
Ernesto Canalis
Award Amount
$349,976.00
Ceiling
$349,976.00
Awarded
April 18, 2025
Identifier
5R01AR078149-05
NIH funded research project to study the mechanisms and treatment of Hajdu Cheney Syndrome, focusing on the role of NOTCH2 mutations and developing antisense oligonucleotides as potential therapy.
Description
These investigations will clarify the mechanisms responsible for Hajdu Cheney Syndrome, a rare but devastating disease characterized by craniofacial manifestations, lysis of the distal phalanges, and bone loss with fractures. The proposed work will establish the function of an important Notch target gene responsible for the syndrome's manifestations. The work will target the mutation in models of human disease as a means to treat and cure this clinical disorder, and will inform treatments for other genetic disorders affecting the skeleton.