The ECHO effect

Posted on

Project ECHO (the mantra for which is “All teach, all learn”) uses video-conferencing technology to provide education and case consultation on best practice clinical services, training, and resources for individuals with specific healthcare needs that are difficult to meet locally. The Waisman Center ECHO platform will serve as a diagnostic and treatment training hub to share the center’s expertise on intellectual and developmental disabilities, such as autism, Down syndrome, and cerebral palsy, throughout the state and beyond.

John Svaren, PhD – Slide of the Week

Posted on

Charcot-Marie-Tooth (CMT) disease is most commonly caused by duplication of a chromosomal segment surrounding Peripheral Myelin Protein 22, or PMP22 gene, which is classified as CMT1A. Several candidate therapies reduce Pmp22 mRNA levels in CMT1A rodent models, but development of biomarkers for clinical trials in CMT1A is a challenge given its slow progression and difficulty in obtaining nerve samples.

Research Core Revitalization Program funds upgrades to shared resources on campus

Posted on

Projects from three research cores at the Waisman Center are among 17 UW core projects to receive grants from the Research Core Revitalization Program—an initiative with support from the Office of the Vice Chancellor for Research and Graduate Education and the Wisconsin Alumni Research Foundation. Awards range from $20,000 to $300,000. Cores provide specialized equipment …

Masatoshi Suzuki, DVM, PhD – Slide of the Week

Posted on

Amyotrophic lateral sclerosis (ALS) is a late-onset neuromuscular disease with no cure and limited treatment options. Patients experience a gradual paralysis leading to death from respiratory complications on average only 2-5 years after diagnosis.

Audra Sterling, PhD – Slide of the Week

Posted on

Title: Comparing tense and agreement productivity in boys with fragile X syndrome, children with developmental language disorder, and children with typical development Legend: Pattern of tense and agreement productivity across boys with fragile X syndrome (FXS), children developmental language disorder (DLD), and children with typical development (TD).  The solid line indicates the median and the cross …

Krishanu Saha, PhD – Slide of the Week

Posted on

Genome editors make targeted changes in the genome and hold great promise in both basic and translational research. Unfortunately, they often produce unwanted adverse effects, including genotoxicity, immune response, and reductions in cellular function.

Jenny Saffran, PhD – Slide of the Week

Posted on

 Eye-gaze methods offer numerous advantages for studying cognitive processes in children with autism spectrum disorder (ASD), but data loss may threaten the validity and generalizability of results. Some eye-gaze systems may be more vulnerable to data loss than others, but to our knowledge, this issue has not been empirically investigated. In the current study, we asked whether automatic eye-tracking and manual gaze coding produce different rates of data loss or different results in a group of 51 toddlers with ASD.

Ari Rosenberg, PhD – Slide of the Week

Posted on

Reconstructing three-dimensional (3D) scenes from two-dimensional (2D) retinal images is an ill-posed problem. Despite this, 3D perception of the world based on 2D retinal images is seemingly accurate and precise. The integration of distinct visual cues is essential for robust 3D perception in humans, but it is unclear whether this is true for non-human primates (NHPs).

Balancing act: what motor function can tell us about autism

Posted on

Can the way a person moves be a key identifier of autism? It’s a question that Waisman Center investigator Brittany Travers, PhD, is trying to answer.

Luigi Puglielli, MD, PhD – Slide of the Week

Posted on

Nε-lysine acetylation of nascent glycoproteins within the endoplasmic reticulum (ER) lumen regulates the efficiency of the secretory pathway. The ER acetylation machinery consists of the membrane transporter, acetyl-CoA transporter 1 (AT-1/SLC33A1), and two acetyltransferases, ATase1/NAT8B and ATase2/NAT8. Dysfunctional ER acetylation is associated with severe neurological diseases with duplication of AT-1/SLC33A1 being associated with autism spectrum disorder, intellectual disability, and dysmorphism.