Award
National Institute of Arthritis and Musculoskeletal and Skin Diseases 5R01AR078149-05
Mechanisms and Treatment of Hajdu Cheney Syndrome
Recipient
University of Connecticut School of Medicine
Award Amount
$349,976.00
Ceiling
$349,976.00
Awarded
April 18, 2025
Identifier
5R01AR078149-05
NIH grant awarded to University of Connecticut School of Medicine to study and develop treatments for Hajdu Cheney Syndrome, focusing on the Notch target gene and antisense oligonucleotides.
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. It will also target the mutation in models of human disease to develop treatments, including antisense oligonucleotides (ASO), to correct skeletal manifestations.