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…
Defining Neurovascular Metabolism in Neurodevelopmental and Neuropsychiatric Disorders
Research Objective Neuropsychiatric disorders correlate to impaired metabolism, though understudied. We will describe how metabolism impacts disorders etiology and identify new, tractable therapeutic strategies. Impact We will uncover metabolic drivers…
Multiomic Studies of Idiopathic Intellectual Disability and Autism Spectrum Disorder (ID/ASD)
Research Objective We provide mechanistic insight into idiopathic Intellectual Disability (ID) and Autism Spectrum Disorder (ASD) based on aberrant redox-mediated posttranslational modifications related to air pollution Impact How air pollution…
Defining the source of dysfunction in monogenic Intellectual Disability Syndrome neurons
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…
Gene Therapy for SLC6A8 Creatine Transporter Disorder
Research Objective The objective is to define a final therapeutic candidate for an effective gene therapy for mutations of the creatine transporter SLC6A8, a major cause of X-linked intellectual disability…
A Phase I Open Label Study to Evaluate the Safety and Tolerability of ISP-001 in Patients with Mucopolysaccharidosis Type 1
Therapeutic Candidate or Device B cells will be isolated from patients suffering MPSI. These will be transformed with a normal copy of the gene and re-introduced into the patient Indication…
Development of a Gene Therapy for the Treatment of WWOX related epileptic encephalopathy (WOREE)
Therapeutic Candidate or Device MZ-9138 is an AAV9 gene therapy Indication WWOX-related epileptic encephalopathy Therapeutic Mechanism MZ-9138 delivered to the brain may transduce neurons to create functioning WWOX protein and…
