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Type 1 Diabetes, CZI Grant, Cystic Fibrosis, Mitochondrial Disease

Published on September 3, 2021 in Cornerstone Blog · Last updated 5 months 3 weeks ago


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In the News

In the News

shafere1 [at] (By Emily Shafer)

Welcome September! Start your month off with a round-up of research news. First up is a study that suggests the possibility of rare syndromic type of disease that has clinical features of both type 1 diabetes and autism spectrum disorder that has not previously been identified. Then read about a new grant from the Chan Zuckerberg Initiative. Keep going to learn about the new director of the Cystic Fibrosis Center and find out who just became president of the American Association for Clinical Chemistry. Finish up with a study about a new tool to measure certain outcomes in patients with mitochondrial disease.

CHOP Researchers Find New Genetic Markers for Rarer Form of Type 1 Diabetes

Researchers at CHOP identified 41 previously unreported genetic markers for non-immune-mediated type 1 diabetes, a less common type of type 1 diabetes sometimes called type 1 B diabetes. Sixteen of these markers were previously linked to autism spectrum disorder, suggesting there may be a genetic link between the two conditions. The findings appeared in Communications Biology.

Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP, and his team studied 18,949 patients of European ancestry, including 6,599 patients with type 1 diabetes and 12,323 control patients. The researchers found 957 patients with low genetic risk scores of type 1 diabetes. After conducting a genome wide association study (GWAS)-focused analysis, these patients contributed to the 41 new genetic markers identified.

“More research will need to be done to determine the exact nature of what effect these genetic loci have on the development of type 1 diabetes and whether they are truly distinct from the genetic causes of the autoimmune form of the disease,” Dr. Hakonarson said.

Find out more about the study in the CHOP press release.

CHOP/Penn Researchers Receive Grant from Chan Zuckerberg Initiative

A team of researchers from CHOP and the University of Pennsylvania are the recipients of a grant from the Chan Zuckerberg Initiative (CZI) that will allow them to contribute healthy pediatric single-cell data to the Human Cell Atlas. The CZI awarded $33 million in grants to 17 groups of pediatric researchers around the world to support this initiative to better understand, prevent, and treat childhood diseases.

The CHOP/Penn project is titled, “The Childhood Hematopoiesis and Immune Development Atlas.” Leveraging the unique strength of the newly established CHOP Center for Single Cell Biology, the researchers seek to map the process of immune development during the first years of life at a single-cell resolution. They will develop and apply open source computational tools to create dynamic, multi-omic maps of the developing hematopoietic and immune system at spatial and temporal resolutions.

The CHOP team includes Kathrin Bernt, MD; Jeffrey Gerber, MD, PhD; Sarah E. Henrickson, MD, PhD; Amy Kratchman; Neil Romberg, MD; Kai Tan, PhD; and Laura Vella, MD, PhD. The Penn researchers include Hao Wu, PhD, and Pablo Gonzalez Camara, PhD.

For more information, please see the CZI’s Pediatric Networks Projects page.

CHOP Welcomes New Director of Cystic Fibrosis Center

Clement Ren, MD, MBA, joined the Division of Pulmonary and Sleep Medicine in July, and he will lead the Cystic Fibrosis Center. Dr. Ren was previously the director of the Cystic Fibrosis Center at Riley Hospital for Children in Indianapolis. In a Q&A, Dr. Ren highlighted his cystic fibrosis (CF) research interests, noting that despite new medicines that have fundamentally changed CF, there are still no cures. One of his research goals is to understand how effective these medicines are at changing the course of CF early in life, which requires better tools to assess lung function early in the disease.

Dr. Ren noted that CHOP is a widely recognized center of excellence for treating for CF, and he sees CHOP becoming a leader in research in all problems associated with CF, such as diabetes, gastrointestinal issues, and other problems.

“The great thing about CHOP and Penn is we have research from a variety of disciplines all focused on CF,” Dr. Ren said. “My goal is to unify that and find synergies to elevate CHOP as a leader in all aspects of CF research.”

Find out more about Dr. Ren and his background, research, and other interested in this Q&A.

Stephen R. Master, MD, PhD, Begins Term as President of American Association for Clinical Chemistry

Stephen R. Master, MD, PhD, division chief for Laboratory Medicine and director of Metabolic and Advanced Diagnostics at CHOP, began his term as president of the American Association for Clinical Chemistry (AACC). He will serve in this position from August 2021 until July 2022.

“I am deeply honored to have the chance to serve as president of AACC,” Dr. Master said. “As president of this organization, I look forward to further advancing the role of laboratory medicine in improving the care patients receive, both here at CHOP and in health care settings across the globe.”

Dr. Master has served in a variety of roles with the AACC and has received several awards from the AACC for his work. He is on the editorial board of several high-impact journals in the field, including Clinical Chemistry, Archives of Pathology and Laboratory Medicine, Clinical Proteomics, and Clinical Mass Spectrometry. In addition, Dr. Master is an associate professor of Pathology and Laboratory Medicine at Perelman School of Medicine at the University of Pennsylvania.

Learn more in the CHOP press release.

New Tools to Measure Skeletal Muscle Function in Patients with Mitochondrial Disease

Researchers from CHOP’s Mitochondrial Medicine Frontier Program developed and validated a new measure to monitor disease severity and progression in patients with impaired muscle function caused by mitochondrial disease. The measure, called “Mitochondrial Myopathy-Composite Assessment Tool” (MM-COAST) may identify skeletal muscle and neurological problems in both children and adults with mitochondrial disease, and it may be used to measure treatment response in future clinical trials. The findings appear in JCSM Clinical Reports.

“Our findings demonstrate that identifying clinically meaningful, tolerable, and quantifiable outcome measures for mitochondrial myopathy in pediatric and adult patients is feasible,” said senior study author Zarazuela Zolkipli-Cunningham, MBChB, MRCP, attending physician in the Mitochondrial Medicine Frontier Program. “We identified specific clinical deficits in our patients that we would have otherwise not known about, as well as key differences in how myopathy symptoms manifest in pediatric and adult patients. The MM-COAST will enable us to accurately follow their symptoms over time in longitudinal studies and in future interventional trials.”

Find out more about the study and the new measure in the CHOP press release.


Catch up on our headlines from our August 20 In the News:

  • COVID-19 Pandemic Worsening a Youth Mental Health Crisis
  • Children With Fontan Circulation May Have Slightly Shorter Stature
  • Preliminary Data Suggests Gene Editing Therapy for Inherited Blood Disorders is Safe and Effective
  • Pediatric Brain Tumor Survivors Show Lower Levels of Face Processing Accuracy

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