FT2020-001: 2019-2021
Rodent Studies of Non-Snord 116 Paternal Ube3a activation. Primary Investigator: D. Segal Summary: Although there are no currently drug approved therapies th
Rodent Studies of Non-Snord 116 Paternal Ube3a activation. Primary Investigator: D. Segal Summary: Although there are no currently drug approved therapies th
FAST Infrastructure grant Primary Investigators: D. Segal, J. Silverman, K. Fink This is a unique program that is aiming to create a core facility as a resou
A human platform to efficiently study Class 1 deleted genes in Angelman syndrome. Primary Investigator: A. Keung This work will develop a rapid gene insert
A biorepository of Angelman syndrome IPSC lines and brain organoids Primary Investigator: Y-H. Jiang The patient iPSC derived neurons, and brain organoids (a
Use of the Actimyo device for evaluation of tolerability and characterization of Angelman syndrome specific gait patterns. Primary Investigator: J. Duis Dr.
Generation and characterization of a new AS mouse model that recapitulates the large deletion of human 15q11-q13 and a control line that carries a deletion o
Genetic Diagnosis Campaign in Argentina. Casa Angelman developed a National Genetic Campaign to provide testing for children across Argentina and with assist