Precision Medicine Initiatives, Medical Mysteries in Bench to Bedside

A blizzard of research happenings and news — from initiatives that are pushing precision medicine forward to a new way of thinking about how cancer progresses — appear in the January issue of Bench to Bedside, The Children’s Hospital of Philadelphia Research Institute’s monthly newsmagazine. Here are five intriguing quotes that will make you want to dig into the articles and read more:

How Precision Medicine is Reshaping Epilepsy Research

“Most drugs for epilepsy work like treating pneumonia with a cough suppressant: It may stop the symptom but doesn’t treat the underlying problem,” said Ethan Goldberg, MD, PhD, a CHOP neurologist and neuroscientist.

Dr. Goldberg’s words help to illustrate how the concept of precision medicine — developing treatments to target the underlying mechanism of disease — is different. A precision treatment would be comparable to an antibiotic, which does treat the underlying cause of the disease.

Championing Trauma-Informed Care in Pediatrics

“A clinician who learns that a child previously witnessed a neighborhood shooting can be aware of how those stress symptoms may manifest during the child’s ED experience,” said Nancy Kassam-Adams, PhD, a behavioral researcher at CHOP who specializes in traumatic stress. “The care families receive can help them better manage any pain and distress in the short run, and may open the door for additional help after they are back at home.”

Integrating a trauma-informed approach into healthcare settings is a way that medical teams can help to prevent or minimize emotional trauma for children and families facing injury, illness, and hospitalization. New research shows that most clinicians realize that trauma-informed care is a pivotal skillset to master, but very few providers have had specific training in this area.

Find out how CHOP also is developing an online game as a screening tool to help clinicians identify children who are having difficulty coping after experiencing a traumatic event.

New Collaboration Uncovering a Mitochondrial Mystery

“There are a lot of areas of mitochondrial biology that are still not known at all,” said Marni Falk, MD, a mitochondrial disease researcher at CHOP. “We’ve been so intrigued with this project because, every time we asked a question, three more questions followed.”

Dr. Falk and colleagues from CHOP and the University of Pennsylvania are studying how an enzyme called N-glycanase 1 (NGLY1), could possibly be related to mitochondrial disease — even though the protein was believed to have no activity within mitochondria, the power plants in cells. This mystery came to the team’s attention via two young patients suspected of mitochondrial disease, who were discovered to actually have an extremely rare genetic disorder that was only recently identified, caused by an inherited deficiency in NGLY1.

Possible ‘Central Hub’ Proteins Found in Cancer Cell Growth

“This finding really expands what’s been considered textbook material,” said Patrick Viatour, PharmD, PhD, an investigator at CHOP. “We thought E2f was mostly promoting cancer growth through aberrant cell cycle activity. If you only have a little E2f activity, it is just the cell cycle. But if you have a lot of E2f activity, as you have in cancer, it’s way more than that. These factors promote cancer progression by actually activating multiple gene programs.”

Dr. Viatour and colleagues published findings in Nature Communications that describe an epigenetic mechanism in cancer cells that amplifies the expression of many genes and could be a central hub in cancer cell growth.

Research on Human Milk Helps Get Infants Off to a Good Start

“What we do at CHOP and our messaging about the importance of human milk is so unlike what many hospitals do; that is why we have such amazing outcomes for our mothers and our infants,” said Diane Spatz, PhD, RN-BC, director of CHOP’s Breastfeeding and Lactation Program and internationally known expert in the field.

Dr. Spatz’ findings have contributed to CHOP’s development of a state-of-the-art Human Milk Management Center and a new on-site human milk bank for hospitalized infants. Yet, human milk science remains largely unexplored. Read more about the importance of research demonstrating how to provide evidence-based lactation support and care.