A5039205779- Lysosomal Storage Disorders Research
- Sexual Differentiation and Disorders
- Urological Disorders and Treatments
- Cytomegalovirus and herpesvirus research
- Viral Infections and Immunology Research
- Viral gastroenteritis research and epidemiology
- Virus-based gene therapy research
- Genetic Mapping and Diversity in Plants and Animals
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Prenatal Screening and Diagnostics
- Advanced Neuroimaging Techniques and Applications
- Bioinformatics and Genomic Networks
- Porphyrin and Phthalocyanine Chemistry
- Neonatal and fetal brain pathology
- Gene expression and cancer classification
Cornell University
2014-2020
Icahn School of Medicine at Mount Sinai
2013
Columbia University
2009
Administration of an adeno-associated virus coding for the CLN2 gene into brain parenchyma slows progression disease in children.
Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene. Our hypothesis was that regional analysis of cortical brain degeneration may identify regions are affected earliest and most severely by disease.Fifty-two high-resolution 3T MR imaging datasets were prospectively acquired on 38 subjects with CLN2. A retrospective cohort 52 disease-free children served as control population. The FreeSurfer...