In the News

Research at The Children’s Hospital of Philadelphia never stops. To help keep you informed about new discoveries and CHOP researchers’ views on timely topics, we are bringing together a roundup of news highlights. Look for this as a recurring feature here on Cornerstone.

Cancer Moonshot Launches with Penn and CHOP Researchers

The big news last week was Vice President Joe Biden’s visit to the Abramson Cancer Center at the University of Pennsylvania Jan. 15 for the launch of the “Moonshot” initiative to accelerate discovery of cancer treatments and cures.

The Vice President reportedly chose the venue in recognition of recent Penn/CHOP team successes with precision immunotherapies, which also featured prominently this week in a Philadelphia Inquirer article about precision medicine.

In his roundtable discussion with CHOP and Penn researchers, the Vice President discussed challenges including data sharing and collaboration. If you missed it, CHOP’s Adam Resnick, PhD, and Phillip “Jay” Storm, MD, announced that afternoon the launch of their new Center for Data Driven Discovery in Biomedicine to address just such challenges for cancer and other diseases.

Read more about Biden’s campus visit at STAT News. Look for more about an innovative precision medicine neuroblastoma clinical trial in the January issue of Bench to Bedside, coming soon.

Gene RANBP1 Found Important in Neuropsychiatric Syndromes Including Autism

“The gene we investigated may function as an important factor, not only in forms of autism, but also in other neuropsychiatric conditions,” said Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP and professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. “We have uncovered underlying molecular defects across disease categories, suggesting that these biological networks are good targets for future research.”

Results of Dr. Hakonarson’s study, published Jan. 19 in Scientific Reports, suggest that variations in the gene RANBP1 could play a significant role in raising a person’s risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome. The finding could open new research opportunities for treatment for multiple neurological diseases.

To learn more, see the CHOP press release.

Gene Therapy Advance for Rare Bleeding Disorder

Hematology researchers have used a single injection of gene therapy to correct a rare bleeding disorder, factor VII deficiency, in dogs. This success in large animals holds considerable potential for a safe, effective and long-lasting new treatment in humans with the same bleeding disorder. The study appeared in the journal Blood.

“Our finding has great clinical relevance for patients with factor VII deficiency," said study leader Paris Margaritis, DPhil, a hematology researcher at the Raymond G. Perelman Center for Cellular and Molecular Therapeutics (CCMT) at CHOP. “These dogs have the type of mutation found in the majority of patients with this disorder, so this approach could lead to a sustained gene therapy in people.”

To learn more, see the CHOP press release.

Kidney Stones Rising in Teens: The Hydration Connection

This week, Cornerstone brought you four things to know about the rising rates of kidney stones in teens, based on the epidemiological study led by CHOP pediatric urologist Gregory Tasian, MD, MSc, MSCE. There is even more to know about the challenge of getting youth to drink enough water to reduce their risk of this painful condition.

“Many people, especially children and adolescents, are very dehydrated,” Dr. Tasian told The Philadelphia Inquirer.

The Inquirer reports that he and others at CHOP have been working to help increase drinking-water access around the city and especially in public schools. Read the in-depth report about the hydration difficulties these youth are facing.

Nursing Quality Linked to Lower Mortality in Surgery

“We found that patients treated in hospitals with better nursing had significantly lower death rates after surgery,” said Jeffrey H. Silber, MD, PhD, director of the Center for Outcomes Research at CHOP and senior fellow at the Leonard Davis Institute of Health Economics at the University of Pennsylvania.

Dr. Silber was lead author of a study published this week in JAMA Surgery, showing that patients undergoing surgery at hospitals recognized with Magnet designation for nursing excellence, and at hospitals with good nurse staffing, have better outcomes at the same or lower costs compared to other hospitals.

Learn more in the Penn Nursing press release and Modern Healthcare blog post, and look for a more in-depth look in a future issue of Bench to Bedside.

Mobile Health

“To some degree we are all self-diagnosing nowadays,” Patrick FitzGerald, vice president for entrepreneurship and innovation at CHOP, told the New York Times. The question, he added, is how hospitals can fold that tendency effectively into their care for patients “so people are getting the right care at the right price.”

FitzGerald’s comments come within the context of patients’ growing use of cell phones and other mobile technology in seeking diagnoses.

It is a timely issue, as The Children’s Hospital of Philadelphia Research Institute just announced the launch of a new Research Affinity Group aimed at mobile health. The new mHealth Research Affinity Group will provide a formal structure to coalesce CHOP-based researchers interested in or conducting mHealth research. It is led by Nadia Dowshen, MD, Linda Fleisher, PhD, and Lisa Schwartz, PhD.

Look for more stories about mobile health research in future issues of Bench to Bedside.