Self-Driving Safety, SMARCA5, Chan Zuckerburg Feature, Minds Matter

limjr [at] chop.edu (By Jillian Rose Lim)

In our latest roundup of research news, learn about how our scientists are making self-driving vehicles safer and unearthing the gene variants responsible for neurodevelopmental disorders, while others are collaborating in exciting projects with the U.S. Army and the Chan Zuckerburg Initiative to drive discoveries in concussion wearables and the roots of neurodegenerative disease, respectively.

CIRP Blog Discusses Staying Alert While Self-Driving

Helen Loeb, PhD, research scientist in the Center for Injury Research and Prevention (CIRP), discusses the need for drivers to stay alert and ready to take control when using self-driving technology, in a new Research in Action blog post. Dr. Loeb draws on recent research from CHOP and Drexel University, in which they examine the human factors at play during autonomous driving, such as reaction time.

In this study, the team utilized CIRP’s driving simulator technology in autonomous mode to observe how 60 participants of differing ages behaved as they engaged various automated features through a number of rides in simulated environments, such as highway or rural. The researchers looked particularly at the position of the drivers’ hands and feet when a request to intervene occurred in a specific scenario. They found that only 12 percent of participants kept their hands on the steering wheel, and only 64 percent had their foot close to the pedals.

“As manufacturers continue to deploy automation, not just on highways, but also in urban environments where pedestrians and bicycles offer formidable challenges to drivers, it’s crucial that owners of highly automated vehicles understand the need to stay alert,” Dr. Loeb wrote.

Read the full blog post on the CIRP website.

Researchers Discover New Genetic Variants Behind Neurodevelopmental Disorders

Researchers in our Center for Applied Genomics (CAG) described how variants of a gene responsible for packing and condensing genetic material present a novel cause for certain neurodevelopmental disorders. Variants of the gene in question, SMARCA5, have been associated with developmental changes in preclinical studies, but until now, such variants have not been associated with a specific disorder.

“Our study is the first to describe how certain germline mutations in SMARCA5 are responsible for a spectrum of neurodevelopmental delays,” said study leader Dong Li, PhD, a CAG research scientist. “Apart from identifying patients with such germline variants for the first time, our extended translational modeling study efforts to determine the underlying functions for these variants further elucidated their clinical relevance.”

In a recent paper published in Scientific Advances, Dr. Li and his colleagues reported on 12 patients who shared similar clinical features such as mild developmental delay, short stature, and microcephaly, as well as SMARCA5 variants. As part of the study, the team also conducted research in fruit flies that shows that losing the function of SMARCA5 led to smaller body size, reduced complexity of sensory neuron processes, and other defects. 

Read more in the press release.

Chan Zuckerburg Initiative Features CHOP Scientists

The Chan Zuckerburg Initiative featured two of our scientists, Rebecca Ahrens-Nicklas, MD, PhD, assistant professor in the Department of Pediatrics, and Elizabeth Bhoj, MD, PhD, attending physician in the Department of Pediatrics, for their involvement in the Initiative’s Neurodegeneration Challenge Network (NDCN). The NDCN is an interdisciplinary collaborative research community that brings “together experimental scientists from diverse research fields, along with computational biologists and physicians” to address the absence of effective therapies for neurodegenerative disease,” according to the Initiative’s website. Drs. Ahrens-Nicklas and Bhoj received funding from the NDCN’s Collaborative Pairs request for applications for their project, “Identifying Novel Neurodegenerative Pathways in Rare Pediatric Disorders.”

The short story appearing on the Initiative’s website features illustrations that depict Dr. Ahrens-Nicklas and Bhoj’s work to prevent and treat rare neurodegenerative disease in children.

“As participants in CZI’s Neurodegeneration Challenge Network Collaborative Pairs program, we’re combining our skill sets and tracking down 100 kids with rare neurological diseases across the world,” Drs. Ahrens-Nicklas and Bhoj stated in the story. “Our goal, like that of our colleagues across the NDCN,  is to find out what is going on in each case (…) This project is built on collaboration: With physicians who bring us their toughest cases, with scientists who share their expertise, and between two friends excited to finally be working together again.”

Check out the story.

Minds Matter Teams Up to Develop Concussion Wearable

CHOP researchers in the Minds Matter Concussion Program are teaming up with West Point’s Keller Army Hospital, the University of Wisconsin Green Bay, and digital health company Oculogica in a U.S. army-funded project to develop a wearable eye tracker to detect concussions in military personnel and athletes. The research team received a $2 million grant from the U.S. Army Medical Research and Development Command, with the project beginning late this year or in early 2022, according to an Oculogica news release. The wearable device would help to assess mild traumatic brain injuries and aid in making decisions on when it might be appropriate to return to duty in the case of soldiers or sports in the case of athletes.

“This is an advancement the field has been waiting for, and it is so needed,” said Christina Master, MD, sports medicine pediatrician at CHOP, in the news release. “We have been studying eye-tracking as part of a multi-modal assessment of concussion for several years in the clinic. The ability to take this to deployed settings, such as the military or sports field, is a critical next step.”

The Minds Matter Concussion Program at CHOP, designated as a 2021 Frontier Program, has made significant advances in improving how concussions are diagnosed and treated, bringing its cutting-edge scientific discoveries from the bench to the bedside. With Frontier status, researchers are continuing to fast-track the use of eye tracking and other objective measures of concussion as diagnostic tools for clinicians.

Learn more about the U.S. army-backed project.

ICYMI

Catch up on our headlines from our May 14 In the News:

• Depression Linked to Financial Strain Due to COVID-19
• And the Outstanding Science Award Goes to … Lisa Young, MD
• Study Shows Changes in Pediatric Sports Injury Presentation During COVID-19
• Two CHOP Docs Receive 2021 Junior Investigator Awards
• Philadelphia Magazine Recognizes CHOP's Gene Therapy Contributions

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