Category: Portfolio Pieces

On the Trail of a Cancer Predisposition Syndrome

Originally published in Bench to Bedside, the CHOP Research monthly publication

I composed this original article and complementary blog post based on interviews with the investigator and two parents of children with this syndrome.

Excerpt:

Inside the cells of a developing human embryo is a little piece of “Alice in Wonderland.” While most of our bodies’ genes are expressed from both our mothers’ and fathers’ chromosomes, there is a particular growth-regulating region of chromosome 11 where Dad’s genes make you grow bigger, and Mom’s genes make you small. As in Alice’s adventure, there is potential for some difficult situations to occur when that growth process is not handled with exacting care.

With new grants awarded by the St. Baldrick’s Foundation and the National Cancer Institute, attending physician and geneticist Jennifer M. Kalish, MD, PhD, at The Children’s Hospital of Philadelphia, is going down the rabbit hole to try to set things right. She aims to answer key questions about cancer while helping children with Beckwith-Wiedemann Syndrome (BWS), an overgrowth disorder that can result when epigenetic regulation of growth-regulating regions of chromosome 11 goes awry.

Five Fascinating Facets of Beckwith-Wiedemann Syndrome

Originally published on Cornerstone, the CHOP Research Blog

I composed this blog post as a complement to the above article about the new investigation into BWS.

Excerpt:

1. BWS is a mosaic condition. Some cells and organs or limbs grow unusually large in children with BWS, and some do not. Patterns of this overgrowth vary from child to child. This mosaicism happens because the changes in gene expression that cause BWS arise early when the developing human embryo has relatively few cells — and the changes occur in only some of them. Cells and organs descended from those dysregulated cells have unusual growth patterns, while cells and organs descended from normally developing cells continue to grow at normal rates. This results in a widely varying presentation of the syndrome in different children.

The mosaic nature of the condition makes it challenging to manage the elevated cancer risk that goes along with BWS. As Dr. Kalish noted, “I can see if a child’s arms are bigger. I cannot see what is going on in the liver or kidney.” Each child’s areas of overgrowth are variable, so all young children with BWS must undergo regular cancer screenings.

Cornering a Cancer-Connected Autoimmune Disease

Originally published in Bench to Bedside, the CHOP Research monthly publication

I composed this original article and related behind-the-science human interest blog post based on interviews with the investigators.

Excerpt:

It is certainly not good news for children to get a double whammy of both cancer and autoimmune disease. Unfortunately, for a small subset of children with neuroblastoma, a common childhood cancer of the peripheral nervous system, an extremely rare autoimmune disorder called OpsoclonusMyoclonus Ataxia Syndrome (OMAS) comes along for the ride. The overactive immune response is believed to be triggered by the cancer.

But there is a twist.

“Patients with neuroblastoma who have OMAS have better outcomes, in terms of their tumor, than patients with neuroblastoma who don’t have OMAS,” said Jessica Panzer, MD, PhD, a pediatric neurologist and attending physician at The Children’s Hospital of Philadelphia who is studying this disease.

That pattern leads Dr. Panzer and other researchers to wonder: Is it possible that OMAS is a case of the body’s immune system finding a successful defense against cancer (but taking it a little too far against healthy cells)? And could we learn safe ways to harness its ability to help more children with neuroblastoma, or even other cancers?

These are among many long-term questions on the distant horizon for researchers who study this little-understood autoimmune disease. First, they need to understand the basics.

Dancing Eyes Brought a Research Team Together

Originally published on Cornerstone, the CHOP Research Blog

I composed this story as a complement to the above article highlighting the science of this team’s collaboration.

Excerpt:

It started at the end of a long day. Jessica Panzer, MD, PhD, then just a few weeks into her pediatric neurology residency at The Children’s Hospital of Philadelphia, was about to go home. Instead, she was called to the emergency room to consult on a 3-year-old girl who could barely walk. What happened then opened up new questions in her budding research career.

Not long after that, Miriam Rosenberg, PhD, started on a convergent path when her own 19-month-old daughter got sick. The toddler first developed problems with excessive drooling and stumbling while she walked. Within a few months, she had a sudden onset of more severe symptoms — unable to walk, severe tremor, unable to feed herself. Dr. Rosenberg and her husband brought their child to the nearest hospital.

CHOP-led Consortium Focuses on Patient-Reported Outcomes

Originally published in Bench to Bedside, the CHOP Research monthly publication

I composed this original article based on an interview with the investigators.

Excerpt:

“How tired do you feel?” a doctor asks a child with a chronic disease. Or, “How well are you managing stress?”

The answers to questions like these are even more important, from many patients’ and families’ perspectives, than the particular numerical result of their lab test results.

But the answers are less useful to doctors than they could be. Doctors do not have validated tools to use such patient-reported outcomes to track progress managing a condition over time in the same way they can compare results of blood tests over time. In clinical research, they are unable to compare the answers across patients to ultimately show an experimental drug meaningfully improves fatigue or other patient-reported measures.

“Our vision is that patient-reported outcomes become like lab tests,” said Christopher Forrest, MD, PhD, a pediatrician and researcher at The Children’s Hospital of Philadelphia and professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania. “Soon doctors will use patient-reported outcomes to monitor patients’ clinical care in the same way they use lab tests or X-rays.”

Dr. Forrest and colleagues at CHOP and partner institutions received a new grant from the National Institutes of Health to advance the science of patient-reported outcome measures to one day achieve that vision.

Driving Safety Research Gets Traction as Business Venture

Originally published in two versions, on Cornerstone, the CHOP Research Blog, and in Bench to Bedside, the CHOP Research monthly publication

I composed these original articles based on interviews with the investigators.

Excerpt:

If you do not expect pediatric research to have anything to do with improving the bottom line of a parcel delivery service or cable company, then the story of Diagnostic Driving may surprise you.

Diagnostic Driving, a startup company spun out from The Children’s Hospital of Philadelphia Research Institute, has spent the past several months accelerating from an idea based on teen driver safety research into a thoroughly researched, successfully piloted business model for improving the safety of corporate automotive fleets. At the end of October, Venk Kandadai, MPH, co-founder of the company, traveled across the country presenting Diagnostic Driving’s success to date and seeking investments so the company can continue its growth.

The company’s journey is an illustration of what a growing number of CHOP-generated ideas may experience soon under the guidance of the new Office of Entrepreneurship & Innovation.

To trace this company’s road from research to the startup world, let’s hit reverse and see where it began.

HealthCare.Gov Upgrades Are Just What This Doctor Ordered

Originally published on Cornerstone, the CHOP Research Blog

I composed this original blog post based on an interview with the investigator and aggregation of related published material.

Excerpt:

When the third round of open enrollment begins on the federal health insurance marketplace Nov. 1, shoppers will see some major changes. These changes might be just what the doctor ordered — if the doctor you are talking to is Charlene Wong, MD, MSHP, a health policy researcher and adolescent medicine fellow at The Children’s Hospital of Philadelphia.

Dr. Wong and colleagues have studied how young adults experience the use of the federal site, HealthCare.gov, and state-based exchanges. Access to health care in this age group is critical for the success of the Affordable Care Act (ACA), as well as for setting young adults up for healthy lives with regular preventive care services.

Young Investigator Seeks a Target for Targeted Neuroblastoma Therapy

Originally published on Cornerstone, the CHOP Research Blog

I composed this original blog post based on an interview with the investigator and took the accompanying photo.

Excerpt:

It is scary to learn your child has neuroblastoma, a tumor of the peripheral nervous system that is the most common cancer in infants. It is scarier still when you get test results that show your child is in the half of neuroblastoma patients whose cancer is very aggressive and high-risk. Doctors routinely test neuroblastoma tumor genes to see if there are multiple extra copies of the gene MYCN. Positive results come with that high-risk prognosis. Amplified MYCN occurs in about half of all high-risk neuroblastoma cases.

Currently, there is not a good answer for parents facing this scenario. Doctors have known about the association between amplified MYCN and poor neuroblastoma outcomes for more than 30 years, but that knowledge has not yet translated into improved, targeted treatments.

One researcher who is now trying to make the start of that translation is Robyn Sussman, PhD, a postdoctoral fellow at The Children’s Hospital of Philadelphia. Dr. Sussman has just received a two-year Young Investigator grant from the Alex’s Lemonade Stand Foundation (ALSF) to pursue this line of research. This week, she is joining 50 researchers from across the country at the third ALSF Young Investigator Summit to learn from and engage with leading researchers in pediatric oncology.

No Rush for Eye Disease Screening in Most Children With Diabetes

Originally published on Cornerstone, the CHOP Research Blog

I composed this blog post as a follow-up to a CHOP press release on the same study, based on an interview conducted by a colleague.

Excerpt:

Something surprising happened when Gil Binenbaum, MD, MSCE, and his colleagues in the Division of Ophthalmology at The Children’s Hospital of Philadelphia examined children with diabetes: They kept failing to find what they were looking for.

“We examined many kids for diabetic eye complications, and they didn’t have diabetic retinopathy,” said Dr. Binenbaum, an eye surgeon, who is also an assistant professor of ophthalmology at the Perelman School of Medicine at the University of Pennsylvania.

Diabetic retinopathy (DR) is one of many potential complications caused by diabetes’ effects on the body’s blood vessels. Although DR can damage retinal tissue and seriously impair vision, the severe form of the condition is quite rare in children, regardless of how long they have had diabetes or how well they control their blood glucose levels, Dr. Binenbaum noted.