Research Objective Understanding alveolar progenitor cell defects in T21 and the genes/pathways associated with them will allow for developing therapeutic approaches for individuals with DS. Impact Although trisomy 21 affects…
Research Objective This study will use pluripotent stem cells derived from patients to determine why Intellectual Disabilities caused by mutations in chromatin regulatory proteins leads to neuronal defects. Impact Our…
Research Objective This proposal will elucidate the mechanisms that identify a stem/progenitor cell population in the human placenta. Impact This proposal addresses our current knowledge gap on human placental development…
Research Objective We will utilize human induced pluripotent stem cells derived from Duchenne muscular dystrophy (DMD) patients for drug testing and drug discovery for this rare genetic disease. Impact Diverse…
Translational Candidate The candidate is CD34+ HSPCs transduced ex vivo with a LAMP2 lentiviral vector. Area of Impact Danon Disease, Lysosomal Storage Diseases, Drug Development for Rare Disease Mechanism of…
Translational Candidate Autologous CD34+ hematopoietic stem and progenitor cells (HSPC) with BTK gene insertion for treatment of X-linked agammaglobulinemia (XLA). Area of Impact The candidate will provide improved outcomes for…
Translational Candidate Autologous human CD34+ HSPC of patients with Friedreich’s ataxia, modified ex vivo using CRISPR/Cas9 to remove the GAA expansion mutation in frataxin Area of Impact Friedreich’s ataxia (FRDA)…
Translational Candidate The patient’s own B cells will be engineered to express the therapeutic enzyme needed for care in Mucopolysaccharidosis type II (MPS II) patients Area of Impact MPS II,…
