Young Investigator Award, Novel Gene Variant, Palliative Care Research

 

In this week's research news, Hyundai Hope on Wheels honors a Children's Hospital of Philadelphia Cancer Center physician with its Young Investigator Award, and collaborative research reveals a gene variant in an ultra-rare genetic disorder common in Old Order Amish population. In addition, a renowned ethics and palliative care expert helps lead a new consortium focused on palliative care research.

Cancer Center Physician Receives Grant for Research in T-cell Malignancy Risk Stratification

Haley Newman, MD

Hyundai Hope On Wheels (HHOW) honored Haley Newman, MD, Attending Physician in the Cancer Center at CHOP, with the Young Investigator Award. This two-year grant provides funding for research projects that are improving the understanding of the biology of pediatric cancer.

Dr. Newman's project, "Impact of Genetic Ancestry on Outcomes in T-cell Malignancies," aims to better understand differences in the biology of acute lymphoblastic leukemia/lymphoma (T-ALL) and T-cell lymphoblastic lymphoma (T-LBL), and to develop and validate risk prediction models. Additionally, this research will incorporate genetic ancestry into risk prediction modeling.

"Relapsed acute lymphoblastic leukemia/lymphoma remains a leading cause of cancer death in children," Dr. Newman said. "Clinically useful risk prediction models are urgently needed to prevent more children from relapsing and dying of T-ALL and T-LBL. Thanks to this grant, we will be able to conduct more research in this space, aiming to enhance risk prediction modeling and improve outcomes for children with T-ALL and T-LBL."

With this latest grant award, Hyundai Hope On Wheels has provided more than $8 million to drive cancer research at CHOP.

Researchers Discover Genetic Disorder Common in Old Order Amish

Researchers at CHOP and the Clinic for Special Children (CSC) discovered that an ultra-rare genetic disorder called complement factor I (CFI) deficiency is more than 4,500 times more likely to affect individuals of Old Order Amish ancestry than the global population. These findings may help clinicians better recognize the disease and develop a standard of care, particularly for Amish patients.

When an Old Order Amish patient at CHOP presented with acute neuroinflammatory symptoms of unknown cause, researchers used rapid exome sequencing to identify a variant of unknown significance in the gene CFI, which was found to be the underlying cause of the patient's disease. They used this information to inform her clinical care and recovery.

This case motivated researchers to determine if other members of the Old Order Amish community also harbored this genetic finding, as they share a common genetic heritage, agrarian lifestyle, and environmental exposures.

"What started as a case report turned into a population study," said co-senior study author Neil Romberg, MD, Attending Physician in the Division of Allergy and Immunology. "Now that our understanding of this disease in this population has been expanded, we can offer personalized treatment plans for these patients to help them recover and get back to a normal life within their community."

The Journal of Allergy and Clinical Immunology published the findings. Learn more in this CHOP news release.

CHOP Helps Lead Newly Established Palliative Care Research Consortium

Chris Feudtner, MD, PhD, MPH, Chief of the Division of General Pediatrics at CHOP, is one of the multiple principal investigators (MPI) of a new consortium focused on palliative care research. Dr. Feudtner, will oversee the consortium's commitment to research across the lifespan as well as addressing ethical issues that arise in the consortium's activities.

Established with a five-year, $64 million National Institutes of Health grant, the Advancing the Science of Palliative Care Research Across the Lifespan (ASCENT) Consortium will provide resources, expertise, and coordination to advance innovative, high-quality research for those living with serious illness and their caregivers.

While palliative care is often associated with older adults, the ASCENT Consortium offers a broad approach. Dr. Feudtner, Director of Research for the Justin Michael Ingerman Center for Palliative Care at CHOP and the David Cornfeld Endowed Chair of Pediatrics, brings vast expertise in palliative care across the lifespan as both a researcher and clinician to the consortium.

"Most people don't want to think about palliative care," said Dr. Feudtner who is also Professor of Pediatrics, Medical Ethics, and Health Policy at the Perelman School of Medicine in the University of Pennsylvania. "But if fate suddenly steps in and you or someone you love has a serious illness with very limited treatment options, then having effective, high-quality palliative care that you can turn to can be vitally beneficial. This is as true regardless of whether the ill patient is very young, very old, or anywhere in between. While different stages of the lifespan present different challenges, the need to be well cared for when seriously ill is constant across the age span."

The University of Colorado School of Medicine will lead the consortium, joined by researchers and interdisciplinary personnel at CHOP, New York University Rory Meyers College of Nursing, Duke University School of Medicine, and the Icahn School of Medicine at Mt. Sinai.

"This consortium will serve as a springboard for filling gaps and offering resources to researchers who will ultimately improve the field," said Jean Kutner, MD, MSPH, Distinguished Professor of Medicine and Chief Academic Officer of UCHealth, who will serve as a principal investigator of the consortium.

Learn more about the ASCENT Consortium in this press release.

ICYMI

Catch up on our headlines from our August 8 In The News:

• Attending Physician Receives Early Career for Genetics Research
• CHOP Researchers Receive Single Ventricle Research Award
• Study Shows Neighborhood Factor Influence Perception of Firearm Availability
• Concussion-related Vision Disorder Identified Through Eye Tracking
• Major Milestone Met in Research for Teen Driver Safety
• Researchers Honored for Pioneering Work in Developing Gene Editing Therapeutics

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