Matthew D. Galbraith

The paper presents a Trisomy 21 Model Atlas comparing mouse and human models to show conserved dosage effects and context-specific transcriptional responses across tissues and developmental stages.

This study identifies hyperactive interferon signaling and lymphoid tissue disorganization as drivers of adaptive immune dysfunction in Down syndrome across development and aging.

This study shows that trisomy 21 cerebral organoids exhibit Alzheimer's disease amyloid and apoE co-pathologies, with apoE playing a key role in the disease process.

The paper introduces a section-aware RAG system for Down syndrome research that prioritizes experimental results to generate accurate, cited responses.

This study identifies attenuated estrogen signaling and NRIP1 as key factors in trophoblast defects in Down syndrome using patient-derived stem cells.

The paper reports altered hepatic metabolism in Down syndrome using multi-omic analysis of plasma and mouse models, showing increased bile acids and liver dysfunction that can be modulated by diet.

The paper identifies a program of transient site-specific gains (TSSG) producing extrachromosomal DNA (ecDNA) in immune-related genes driven by NF-κB signaling.

This study shows that inhibiting Mediator kinases CDK8/CDK19 suppresses hyperactive IFN signaling in Down syndrome by affecting transcription, splicing, and lipid metabolism.

This study investigates immune dysregulation in Down syndrome and shows that JAK inhibition with tofacitinib reduces autoimmune symptoms and inflammatory markers without significant adverse effects.

The paper shows that correcting interferon receptor gene dosage in a mouse model of trisomy 21 rescues multiple key phenotypes associated with Down syndrome.

This study identifies a translational control mechanism regulated by PCBP2 and DHX30 that determines the outcome of p53 activation by Nutlin, shifting the response from cell cycle arrest to apoptosis.