Restricted Research - Award List, Note/Discussion Page
Fiscal Year: 2023
889 Texas Tech University (142777)
Principal Investigator: Fon Tacer, Klementina
Total Amount of Contract, Award, or Gift (Annual before 2011): $ 378,000
Exceeds $250,000 (Is it flagged?): Yes
Start and End Dates: 3/1/23 - 2/28/25
Restricted Research: YES
Academic Discipline: Veterinary Medicine
Department, Center, School, or Institute: Veterinary Medicine
Title of Contract, Award, or Gift: Delineating the role of MAGEL2 in impaired neurohormonal balance in PWS and SYS Is there a way to overcome MAGEL2 requirement in hypothalamus
Name of Granting or Contracting Agency/Entity:
Foundation for Prader-Willi Research
CFDA: n/a
Program Title: n/a
Note:
1.1.1: The purpose of this research project is to determine mechanistic insights into secretory granules (SG) deficit due to loss of MAGEL2 in PWS and SYS, the understanding of which is critical for the ultimate restoration of neuroendocrine function for therapeutic purposes. We aim to thoroughly investigate MAGEL2-driven neuroendocrine defects on organismal, cellular, and molecular levels. Namely, several symptoms seen in PWS and SYS patients and phenotypes observed in Magel2 KO animal models, from hormone deficiency (hypogonadism, short stature, central adrenal insufficiency, and hypothyroidism) to hunger and anxiety, suggest that a neuroendocrine deficit is the major driver of the pathogenesis.
Discussion: No discussion notes