Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more
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Marcus Autism Center

Fragile X files — expanded

A genetic disorder caused by silencing of a gene on the X chromosome, fragile X syndrome affects about one child in 5,000, and is more common and more severe in boys. It often causes mild to moderate intellectual disabilities as well as behavioral and learning challenges.

Amy Talboy, MD

The gene responsible for fragile X syndrome, the most common inherited form of intellectual disability, was identified more than 25 years ago. Emory genetics chair Stephen Warren played a major role in achieving that milestone. His work led to insights into the molecular details of learning and memory, and nationwide clinical trials — which have a more complicated story.

Treating the molecular basis of a neurodevelopmental disorder, instead of simply addressing symptoms, is a lofty goal – one that remains unfulfilled. Now a new study, supported by the National Institute of Neurological Disorders and Stroke, is reviving a pharmacological strategy that Warren had a hand in developing.

“This is a very well thought out approach to studying changes in language and learning in children who are difficult to test,” says Amy Talboy, medical director of Emory’s Down Syndrome and Fragile X clinics, who is an investigator in the NINDS study. “It could change how we conduct these types of studies in the future.” Read more

Posted on October 23, 2018 by Quinn Eastman in Neuro Leave a comment

Let’s not elope

Elopement may sound cute, because the word evokes a starry-eyed couple running away to get married. Elopement also refers to when a child runs or wanders from a safe, supervised environment. It can be a worrisome concern among the parents and caregivers of children with autism spectrum disorder and/or intellectual disability.

Here is a straightforward post from Seattle Children’s on elopement. Cathy Rice, now director of Emory Autism Center and previously at the CDC, has published two papers on elopement.

This May, Nathan Call, director of Severe Behavior Programs at Marcus Autism Center, and colleagues published a retrospective review of their behavioral treatments for elopement, extending back to 2003. This is a companion to their 2015 analysis of treatment for pica, the ingestion of inedible substances. Call is also assistant professor of pediatrics at Emory University School of Medicine.

He summarized their approach by saying: “Individualizing treatment based upon the reason each child elopes seems to work very well.” The paper makes it clear that the reasons for a child eloping were a mixed bag: for some it was “access to preferred tangible items,” for others it was access to attention or other reasons.

Elopement in children with certain conditions can be challenging to research in a real-world context due to the high stakes involved; the consequences of not intervening can be catastrophic. For instance, Call recounted an incident involving a child whose fascination with balloons was so intense it affected his awareness of property values and safety. The child’s impulse to elope was triggered twice, each time leading to near-tragic accidents with vehicles, once because a colorful balloon display at a local real estate had irresistibly caught his attention. This highlights the critical need for vigilant supervision and safety strategies in such cases.

The 11 children in the review were ages 5 to 12, and 7 had a diagnosis of autism spectrum disorder – others had Down syndrome or intellectual disability. Read more

Posted on October 14, 2016 by Quinn Eastman in Neuro Leave a comment

Socialization relative strength in fragile X longitudinal study

A study published in Pediatrics this week tracks “adaptive behavior” as children and adolescents with fragile X syndrome are growing up. This is the largest longitudinal study to date in fragile X, which is the leading inherited cause of intellectual disability and the leading single-gene risk factor for autism spectrum disorder.

Adaptive behavior covers a range of everyday social and practical skills, including communication, socialization, and completing tasks of daily living such as getting dressed. In this study, socialization emerged as a relative strength in boys with fragile X, in that it did not decline as much as the other two domains of adaptive behavior measured: communication and daily living skills.

The lead author of the paper is Cheryl Klaiman, formerly of the Stanford University Center for Interdisciplinary Brain Sciences, now senior psychologist at Marcus Autism Center.

The “socialization as relative strength in fragile X” findings meshes with a growing awareness in the autism field, summarized nicely here by Jessica Wright at the Simons Foundation Autism Research Initiative, that fragile X syndrome symptoms are often distinct from those in autism spectrum disorder.

One key distinction between the disorders, for example, is in social interactions. Children with autism and those with fragile X syndrome both shy away from social contact, have trouble making friends and avert their gaze when people look at them.

But children with fragile X syndrome often sneak a peek when the other person turns his back, researchers say. Children with autism, in contrast, seem mostly uninterested in social interactions.

“Children with fragile X syndrome all have very severe social anxiety that plays a big role in the perception that they have autism,” says Stephen Warren, professor of human genetics at Emory University School of Medicine in Atlanta. “They are actually interested in their environment; they are just very shy and anxious about it.”

Posted on July 29, 2014 by Quinn Eastman in Neuro Leave a comment

$30M grant to Children’s Healthcare supports Emory partnership

Pediatric researchThe Joseph B. Whitehead Foundation has given $30 million to Children’s Healthcare of Atlanta to support pediatric research. The grant includes $25 million to help fund a new research building located on the Emory campus, and $5 million to support the Marcus Autism Center.

The grant will allow Children’s and Emory to expand their research partnership, attract top scientists, and advance research discoveries that will improve the health of children.

Some of the pediatric research conducted in a new building to be built on the Emory campus will focus on cardiology, cancer, vaccines, and new drug discovery. The grant has implications for the city of Atlanta as a growing research community, building on collaborations among Children’s Healthcare, Emory, Georgia Institute of Technology, Morehouse School of Medicine, and others.

Fred Sanfilippo, MD, PhD, executive vice president for health affairs at Emory, and Donna W. Hyland, president and CEO of Children’s Healthcare of Atlanta, explained that the new grant, which is the largest single gift ever to Children’s, will have an enormous impact on the two institutions, building on the strong partnership between Emory and Children’s and leading them to become a major pediatric research hub in the Southeast and the nation. Most importantly, it will help in finding cures for some of the most common and devastating childhood diseases.

Posted on November 13, 2009 by admin in Uncategorized Leave a comment