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New Syndrome Named, National Honor for Pediatric Oncologist

Published on April 8, 2016 in Cornerstone Blog · Last updated 4 months 2 weeks ago


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Check out the most exciting research news from The Children’s Hospital of Philadelphia this week. From leading a group of international researchers who identified a new syndrome to working on a prestigious panel that will give guidance about ways to advance treatments for children with cancer, CHOP researchers are putting pediatric research in motion.

Researchers Uncover New Syndrome Linked to Intellectual Disability

An international study led by researchers from the Center for Applied Genomics (CAG) at CHOP identified a new syndrome that causes intellectual disability.

The study team analyzed DNA samples from 13 affected children from nine unrelated families, along with DNA from the children’s healthy parents. All the children had developmental delays, ranging from moderate to severe, and all had low muscle tone. Five of the children had seizures.

Although the clinical symptoms varied among the children, all had mutations in one gene, TBCK (for TBC1-domain-containing kinase), that the CAG researchers identified when they performed whole-exome sequencing. The parents of all 13 children carried the same gene change found in their affected children, who inherited the recessive trait — one copy from each parent. The researchers propose naming the condition TBCK-related ID syndrome.

“Intellectual disability is a common diagnosis, but it includes many different diseases, with multiple genetic causes, and few targeted therapies,” said first author Elizabeth Bhoj, MD, PhD, a CAG genetics fellow. “This study may represent an early step toward the types of precision medicine treatment that may become more common as we draw on genomic research.”

The TCBK gene codes for the TBCK protein, which in turn helps to regulate signals along a biological pathway called the mTOR pathway. The study team showed that cells from the affected children had lower levels of mTOR signaling and of the TCBK protein. However, when the researches added leucine, an amino acid that acts along the mTOR pathway, to cell cultures, they measured an increase mTOR signaling in the patients’ cells.

“This raises the possibility that treating affected children with leucine supplements could relieve some of their symptoms,” Dr. Bhoj said, adding that a next step will be to perform a pilot study to test the effects of leucine supplements in children identified with TBCK-related ID syndrome.

The study findings appeared online in the American Journal of Human Genetics. Read more in the CHOP press release.

Wide Variation in Diagnosis, Prescribing for Pediatric Mental Health Conditions

A new study reported by PolicyLab researchers in the journal Pediatrics showed that the prevalence of mental health diagnosis and psychotropic medication prescribing varies substantially across pediatric practices and is only partially explained by psychiatrist availability. The authors suggest that research is needed to better define the causes of variable practice-level diagnosis and prescribing and implications for child mental health outcomes.

The study examined electronic heath records over a five-year period from 43 U.S. primary care practices of children ages 4 to 18. Among the 294,748 children, 15 percent received a mental health diagnosis, and 14 percent were prescribed psychotropic medication. Attention-deficit/hyperactivity disorder (ADHD) was most commonly diagnosed, but the proportion of children who received an ADHD diagnosis at each practice ranged from 1 percent to 16 percent.

Alexander Fiks, MD, MSCE, the senior researcher on the study, told HealthDay News that it isn’t unusual for pediatric practices to have some differences in diagnosing and treating mental health conditions, but that it was "a bit surprising" to see the wide range, particularly in ADHD diagnoses.

CHOP Pediatric Oncologist Guiding Moonshot Initiative

Peter C. Adamson, MD, an oncologist at CHOP and an internationally recognized leader in pediatric cancer drug development, was named to a Blue Ribbon Panel of scientific experts, cancer leaders, and patient advocates by the National Cancer Institute (NCI). Dr. Adamson, who also chairs the Children's Oncology Group (COG), will join other thought leaders in the cancer community to provide scientific guidance as a working group of the presidentially appointed National Cancer Advisory Board (NCAB) and give direction to Vice President Joe Biden’s National Cancer Moonshot Initiative.

“This Blue Ribbon Panel will ensure that, as NIH allocates new resources through the Moonshot, decisions will be grounded in the best science,” stated the Vice President in a news release. “I look forward to working with this panel and many others involved with the Moonshot to make unprecedented improvements in prevention, diagnosis, and treatment of cancer.”

New approaches to the treatment of pediatric cancers are among the themes that the panel will consider. As part of their discussions, the panel also will gather public comments over the next several months to help inform its recommendations, which are expected to be delivered later this summer. A final report by the White House Cancer Moonshot Task Force will be produced and delivered to President Barack Obama by Dec. 31.

Dr. Adamson is also a professor of Pediatrics and Pharmacology at the Perelman School of Medicine at the University of Pennsylvania. Read more about Dr. Adamson’s leadership roles in the Research Institute’s 2015 Annual Report.


In case you missed it, Cornerstone this week shared highlights from the latest issue of our research newsmagazine, Bench to Bedside, and followed the unexpected paths that research sometimes takes.

Last week’s “In the News” summary shared CHOP researchers’ expertise on the challenges and needs facing youth who are gender non-conforming or transgender, gave insights into children’s sleep problems, and congratulated Paul Offit, MD, director of the Vaccine Education Center at CHOP, on receiving an award for his contributions to improve immunization rates and vaccine development.

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