Audrey E. Thurm

Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

Preserved social development but impaired executive function in a Shank3-deficient rat model of Phelan-McDermid syndrome

This study examines Shank3-deficient rats to identify behavioral impairments, finding that executive dysfunction is more pronounced than sensorimotor or social deficits.

Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis

This study shows that proteasome mutations in CANDLE syndrome disrupt neuronal development by increasing polyamine levels through ODC dysregulation, and inhibiting ODC can reverse these effects.

Toward Early Diagnosis and Therapeutic Discovery in CLN3 Disease: A Computational Biomarker Discovery Framework

The paper identifies six potential biomarkers for CLN3 disease using proteomics data and machine learning, with some showing differential expression linked to disease progression.

AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome using a Delphi Panel

This paper develops meaningful score differences (MSDs) for the Bayley-4 and Vineland-3 in Angelman syndrome using a Delphi panel, finding that MSD thresholds vary with baseline functioning severity.

Leveraging clinical sleep data across multiple pediatric cohorts for insights into neurodevelopment: the Retrospective Analysis of Sleep in Pediatric (RASP) cohorts study

The paper analyzes sleep data from 1527 pediatric PSGs across five sites to study neurodevelopmental disorders, identifying sleep architecture disruptions in Down Syndrome and developing a sleep stager and brain age prediction model.

Data-driven consideration of genetic disorders for global genomic newborn screening programs

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Spindle Chirp and other Sleep Oscillatory Features in Young Children with Autism

The paper investigates spindle chirp and other sleep oscillatory features in young children with and without autism, finding significant differences in chirp negativity and coupling angles.

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

This study presents a 10-year prospective analysis of type II GM1 gangliosidosis, detailing disease progression and phenotypic features in 41 patients.

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.