Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
A new paper published by Anita Bhattacharyya, PhD reveals that the differences in brain structure in individuals with Down syndrome (DS or Trisomy 21) may be due to disrupted signaling pathways that alter brain development to result in the incorrect number or placement of cells in the brain.
The goal of this proposal was to determine if microRNA’s (miR) are elevated in the plasma of individuals affected by the inherited peripheral neuropathy Charcot-Marie-Tooth Disease, type 1A (CMT1A)
Title: Single-cell gene expression analysis reveals signatures of adult neurogenesis in mouse, pig and macaque, but not in humans. Legend: A) Schematic of the analytic workflow. DG: dentate gyrus; CA: cornu ammonis; Sub: subiculum; EC: entorhinal cortex B) Seurat integration of all cells in the dentate gyrus (each dot represents one cell). RGL: radial glia-like cell; …
Alexander disease (AxD) is a devastating leukodystrophy caused by gain-of-function mutations in GFAP, and the only available treatments are supportive. Recent advances in antisense oligonucleotide (ASO) therapy have demonstrated that transcript targeting can be a successful strategy for human neurodegenerative diseases amenable to this approach.
Title: Association between FMR1 CGG Repeat Number Polymorphism and Phenotypic Variation in the General Population Legend: Associations between CGG repeat lengths and phenotypes. (A) Linear association with IQ. (B) Linear association with college graduate (males only). (C) Curvilinear association with age at menopause (females only). (D) Curvilinear association with the number of biological children (females only). (E) …
Lauren Bishop, PhD, an assistant professor in the School of Social Work and a Waisman Center investigator, was recently honored with the 2022 Deborah K. Padgett Early Career Achievement Award from the Society for Social Work and Research.
Our knowledge to date about structural brain development across the lifespan in ASD comes mainly from cross-sectional studies, thereby limiting our understanding of true age effects within individuals with the disorder that can only be gained through longitudinal research.
Title: CRISPR-Cas9 deletion of PMP22 super enhancer creates a new model of hereditary neuropathy with liability to pressure palsies (HNPP) Legend: (A) Morphometric analysis demonstrates axonal loss i thin section were taken from 3- to 5-month-old wild-type, Pmp22-SE+/− and Pmp22-SE−/− nerve. Citation: Harrison Pantera, Bo Hu, Daniel Moiseev, Chris Dunham, Jibraan Rashid, John J. Moran, Kathleen Krentz, …
Acoustic cues to deception on a picture-naming task were analyzed in three groups of English speakers: monolinguals, bilinguals with English as their first language, and bilinguals with English as a second language
Waisman Center investigator David Gamm, MD, PhD, and Waisman affiliate Kris Saha, PhD, have published a proof-of-concept method to correct Best disease – an inherited form of macular degeneration that causes blindness, and that is currently untreatable. To read the article, click here.
