Multi-gene modulation to rescue CNS-associated microdeletion syndromes
Research Objective Chromosomal microdeletion syndromes result in severe neuropsychiatric syndromes and lack therapy. This proposal will define critical genomic regions needed to generate new tools for functional rescue. Impact This…
Development of in vitro and in vivo functional human synthetic kidney organoid (hSKO) model as a platform technology for kidney research
Research Objective Development of a human stem cell-derived, spatially-patterned, mature and functional human synthetic kidney organoid (hSKO) model as a platform technology for basic and translational kidney research. Impact Lack…
Mechanisms of Transcription Factor Haploinsufficiency in Human Congenital Heart Disease
Research Objective We aim to solve a 30 year old problem, which is to understand using human stem cells how certain genetic mutations cause human disease. Impact We currently don't…
Modeling of GATAD2B-associated neurodevelopmental disorder and NuRDopathies: Investigation of cellular & molecular anomalies altering neurodevelopment
Research Objective Human and animal models of NuRD-deficiency will identify NuRD-subtype function in context of neurogenesis. Multi-omic studies will identify/quantify molecular and cellular changes in NuRD-deficiency. Impact NuRD-deficiency causes several…
Harnessing vascular stem cells to grow and protect the human brain
Research Objective The origins of brain vascular mural cells are unknown. This proposal will identify mural stem cells in the developing human and mouse brain and determine their impact on…
Development of a Gene Therapy for the Treatment of Pitt Hopkins Syndrome (PHS) – Translating from Animal Proof of Concept to Support Pre-IND Meeting
Translational Candidate MZ-1866 is a recombinant AAV9 based gene therapy containing the transgene encoding Transcription Factor 4 (TCF4) Area of Impact Pitt Hopkins Syndrome is a rare genetic neurological disease…
CRISPR/Cas9-mediated gene editing of Hematopoietic stem and progenitor cells for Friedreich’s ataxia
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)…