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$1 Million Gift, Airplane Safety, Type 2 Diabetes Gene, Thyroid Disorders

Published on September 2, 2016 in Cornerstone Blog · Last updated 4 months 1 week ago


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This week’s In the News roundup takes science at The Children’s Hospital of Philadelphia to new elevations, including a stellar donation by the Eagles Charitable Foundation to support autism research. (Go Birds!) A biomechanics researcher posts a blog that looks skyward to new airplane safety recommendations for children who travel. Sophisticated genomics research takes us on a trip of discovery full of twists and turns. And a scientific review brings us back down to earth, providing solid ground for pediatricians to recognize thyroid problems.

Eagles Charity’s $1 Million Gift Supports Autism Research

Research programs at CHOP’s Center for Autism Research (CAR) will soar to new heights with a $1 million donation from the Eagles Charitable Foundation announced at an inaugural Taking Flight for Autism fundraiser this week at Lincoln Financial Field. More than $300,000 in net proceeds from the event also will be donated.

“There is a lot we all can still learn about autism and that is why we believe in the importance of providing financial support to leading institutions who are already doing amazing work in this area,” said Jeffrey Lurie, Eagles chairman and chief executive officer. “One of those leading institutions is the Center for Autism Research at Children’s Hospital of Philadelphia, and we could not be more pleased to partner with them on this cause.”

Autism spectrum disorder (ASD) is a complex neurological and development condition that affects approximately one in 68 children in the U.S. ASD symptoms usually appear during the first three years of life and vary with each individual, but in most cases children with ASD demonstrate difficulties with social communication and unusual or repetitive interests and behaviors.

CAR’s mission is to make rapid progress in understanding the underlying causes of ASD, with the ultimate goal of discovering treatments that will make a difference for families living with autism. CAR's multidisciplinary teams in psychology, neurosciences, and genetics are spearheading the largest and most innovative autism studies ever conceived and applying state-of-the-art research and clinical tools to unlock the mysteries of autism.

"The Center for Autism Research at the Children’s Hospital of Philadelphia conducts research, provides support for patients and families challenged by ASD, and trains clinicians in best practices in autism treatment,” said Madeline Bell, president and CEO of CHOP. “This very generous donation by the Eagles Charitable Foundation will have a positive impact on our ability to achieve significant breakthroughs for children and families.”

In April, the Philadelphia Eagles partnered with CAR to host the 6th Annual Huddle Up for Autism event at Lincoln Financial Field, which attracted more than 3,000 guests and raised more than $40,000 for CAR programs and research.

A View of New Airplane Safety Recommendations for Tiny Travelers

Severe turbulence can happen anytime, as passengers experienced this week on a frightening Houston-to-London flight over the Atlantic. The pilots made an emergency landing early Wednesday in Ireland, and 12 people including three children were hospitalized. A timely blog post by the Center for Injury Research and Prevention (CIRP) gave an overview of new safety recommendations about restraining children on planes.

Aditya Belwadi, PhD, CPST, a CIRP biomechanics researcher, reported that the National Safety Council (NSC) announced an update to its child passenger safety (CPS) policy statement. The NSC supports a mandate that children under 2 years old should be properly secured in their own seat on airplanes using a child restraint system (CRS) that has been approved and tested for aircraft usage. This is in line with recommendations from the Federal Aviation Administration that all children who fly, regardless of age, should be restrained in the appropriate CRS for their weight and size attached to the aircraft seat by the aircraft seat belt.

Although many child health and safety advocates support moving beyond these voluntary recommendations toward mandatory use of CRS in flight, there is another side to the issue, Belwadi points out: “If parents/caregivers are forced to choose between purchasing another plane ticket for an infant (and being required to carry a CRS onto an aircraft), they may elect to drive to their destination instead, statistically raising the family’s risk of injuries or fatalities.”

Belwadi highlights the need for more research better to understand potential barriers and any unintended consequences that may come with a CRS mandate for children under age 2. Additional research is also needed to explore the injury metrics for children of different ages and sizes in CRS, simulating aircraft-type crashes and turbulence motion.

Researchers Identify Novel Culprit Type 2 Diabetes Gene

New research sheds light on some of the twists and turns of applying gene discovery to help unravel a complex disease. Struan F.A. Grant, PhD, a genomics researcher at CHOP, and colleagues at CHOP and the Perelman School of Medicine at the University of Pennsylvania used sophisticated scientific tools to reveal a new gene, ACSL5, for type 2 diabetes at a well-established genomic location.

ACSL5 codes for the enzyme acyl CoA synthesase 5 that plays a role in lipid metabolism. Developing drugs to act on this enzyme might help patients with type 2 diabetes (T2D) by increasing their sensitivity to insulin — an underlying issue in the disease. Dr. Grant cautioned, however, that much remains to be learned about the action of ACSL5, which is strongly regulated by a variant within another gene location, TCF7L2. Dr. Grant led a research team a decade ago that discovered the TCF7L2 gene variant raised the risk of type 2 diabetes.

“This well-known genomic location harbors an especially strong signal, and may control multiple other genes, yet to be identified,” Dr. Grant said. “In addition, we still don’t know which specific tissue or tissues that these T2D-related signals operate in to affect patients — whether they act primarily in the gut, in the liver, in adipose tissue or on beta cells in the pancreas. As we continue to better understand the biological mechanisms functioning in type 2 diabetes, we expect to find better strategies for treatment.”

In the current study, Dr. Grant’s team discovered that the TCF7L2 variant regulates ACSL5 by using a gene editing tool called CRISPR and a three-dimensional structural biology technique called circularized chromosome conformation capture, or 4C, to better understand what was occurring at the molecular level.

For more information, see the CHOP press release.

On the Lookout for Thyroid Problems in Children

The thyroid is a small butterfly-shaped gland in the front of your neck that makes thyroid hormones, which powerfully influence how many parts of your body work. It’s essential for early brain development, cognition, and growth through childhood and adolescence, which is why it’s crucial for primary care physicians to be on the lookout for thyroid abnormalities. Some examples of thyroid conditions are hypothyroidismhyperthyroidism and thyroid nodules. Andrew J. Bauer, MD, a pediatric endocrinologist at CHOP and director of the CHOP Pediatric Thyroid Center, contributed to a scientific review of thyroid disorders to provide practical information for busy pediatricians and primary care doctors in recognizing a thyroid disease. Dr. Bauer and his colleagues describe the risk factors, signs, and symptoms that may occur in thyroid disorders. Their findings are based on a critical review of 479 articles published from 2010 to 2015 with an emphasis on evidence-based management practices for clinicians, consensus statements, and guidelines.

“An understanding of risk factors, clinical signs and symptoms, and interpretation of screening laboratories ensures an efficient and accurate diagnosis of these common disorders,” the article concludes. “Regular communication between the primary care physician and the subspecialist is critical to optimize outcomes because the majority of patients with thyroid disorders will require long-term to lifelong medical therapy and/or surveillance.”

For more information about thyroid disorders in children, visit the Pediatric Thyroid Center at CHOP or watch this video.


In case you missed it earlier this week on Cornerstone, we highlighted three novel pilot projects under way by investigators who won awards from CHOP Research Institute’s Clinical Futures. The recipient of the Clinical Futures' Fall 2015 Pilot Grant Award was Nicolas Bamat, MD, and the two recipients of the Spring 2016 award were Sagori Mukhopadhyay, MD, MMSc, and David I. Chu, MD.

Last week’s In the News post covered a study linking asthma with other allergies and news on progress that has brought new treatments for juvenile arthritis. Plus, an immunology discovery could lead to treatments for inflammatory disorders.

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