Peggy Modaff, MS, CGC, a distinguished clinical genetic counselor in the department of pediatrics and clinic coordinator of the Bone Dysplasia Clinic, was selected to serve on the medical advisory board for the non-profit organization Little People of America (LPA).
Clark Kellogg
Brad Christian, PhD – Slide of the Week
PET amyloid [11C]PiB imaging has revealed early detection of Aβ in the striatum in individuals with Down Syndrome (DS), a group carrying genetic risk for AD.
Pelin Cengiz, MD – Slide of the Week
The variability of severity in hypoxia ischemia (HI) induced brain injury among research subjects is a major challenge in developmental brain injury research.
Lauren Bishop, PhD – Slide of the Week
Assessing the impact of interdisciplinary training programs is highly desirable and needed. However, there are currently no established methods to prospectively assess long-term outcomes of trainees compared to individuals who did not receive training.
Xinyu Zhao, PhD – Slide of the Week
Neurodevelopmental impairment contributes to the hallmark cognitive disability in individuals with Down syndrome (DS, trisomy 21, T21).
Barbara Bendlin, PhD – Slide of the Week
Insulin resistance (IR) has been related to reduced cerebral glucose metabolism in regions identified as hypometabolic in Alzheimer’s clinical syndrome. Insulin secretion (IS) has been less studied than IR despite findings that decreased IS is an early indicator of future type 2 diabetes and a potential predictor of Alzheimer’s clinical syndrome.
New study reveals changes in key pathway in Down syndrome
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.
Brittany Travers, PhD – Slide of the Week
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)
André Sousa, PhD – Slide of the Week
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 …
Tracy Hagemann, PhD – Slide of the Week
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.