Rare Disease Day 2025 Program | Page 4

Poster Presentations

Stephen Chelko , Ph . D ., Department of Biomedical Sciences Therapeutic Effects of Anti-CD14 Antibody in Arrhythmogenic Cardiomyopathy
Elizabeth Hammock , Ph . D ., Department of Biomedical Sciences Prader-Willi Syndrome : hypothesized etiology and oxytocin therapeutics
Yang Hou , Ph . D ., Department of Behavioral Sciences and Social Medicine Psychosocial and Lifestyle Predictors of Neurobehavioral Function of Adolescents with Neurofibromatosis Type 1 : An Ecological Momentary Assessment Study
Jerome Irianto , Ph . D ., Department of Biomedical Sciences Glioblastoma neurospheres contract prior to cell invasion , which depends on actomyosin and microtubule activity
Deirdre McCarthy , B . Sc ., Department of Biomedical Sciences Novel adeno-associated viruses ( AAV ) as a promising gene delivery tool for neurological disorders
Jose Pinto , Ph . D ., Department of Biomedical Sciences Hemodynamic And Myocardial Strain Analyses Reveal Global And Regional Diastolic Dysfunction In A Tnnc1-A8V Mouse Model Associated With Human Pediatric Hcm / Rcm
Yi Ren , Ph . D ., Department of Biomedical Sciences Cannibalism and Tumor Cell Debris : Potential Drivers of Pediatric Tumor Progression and Treatment Resistance
Cesar Rodriguez , M . D ., Department of Biomedical Sciences Accuracy of the Pediatric Rare Diseases Knowledge Hub
Cesar Rodriguez , M . D ., Department of Biomedical Sciences Development of a Cell-based Therapeutic for Trimethylaminuria
Qing-Xiang " Amy " Sang , Ph . D ., Department of Chemistry and Biochemistry Developing Novel Biological Therapies for Rare Pediatric Brain Cancers
Zucai Suo , Ph . D ., Department of Biomedical Sciences Mechanistic studies of a single point mutation causing human DNA ligase 1 deficiency , a rare pediatric disease
Robert Tomko Jr ., Ph . D ., Department of Biomedical Sciences Insights into PSMC5 syndrome revealed by a functional analysis of the proteasome assembly chaperone Rpn14 / PAAF1
Yuan Wang , Ph . D ., Department of Biomedical Sciences A non-viral treatment for Fragile X syndrome
Yue Wang , Ph . D ., Department of Biomedical Sciences Establishing a Human Beta Cell Model of Congenital Hyperinsulinism using Prime Editing System
Wen Zhu , Ph . D ., Department of Chemistry and Biochemistry Decoding the Protein Biochemistry of TBCK