Tag: feature story

Discovery Unites Three Families with Rare Syndrome

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Originally published in the 2015 CHOP Research Annual Report.

I wrote this article based on a new interview with a parent and a past press release and blog post.

Excerpt:

When they met as a group for the first time, Leta, Liam, and Nadira seemed to bond instantly. All three are under 4 feet tall, have similar mannerisms, wide-set eyes, and bubbly personalities. They live with chronic respiratory problems and other medical challenges, in addition to cognitive and physical developmental delays.

“They look more like siblings than their actual blood siblings,” said Melissa Ashton-Grant, mother of Nadira. “To see how they interacted with each other, it felt right.”

The children’s similarity was no coincidence — and confirming and understanding their connection was no small matter. The three families gathered in March to celebrate because researchers at The Children’s Hospital of Philadelphia had discovered the rare genetic mutation their children share, and had given their cryptic constellation of symptoms a name: CHOPS Syndrome. CHOPS is an acronym that stands for Cognitive impairment and coarse facial features, Heart defects, Obesity, Pulmonary involvement, Short stature and skeletal dysplasia (abnormal bone development).

Beyond Imagining: Pediatric HIV Research Faces the Future

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Originally published in the 2015 CHOP Research Annual Report.

I composed this original article based on multiple interviews and background literature research.

Excerpt:

The HIV epidemic in 2015 and beyond is a dramatically different one than ever seen or imagined during the height of the AIDS crisis in the 1980s and ‘90s.

“In the early days, up to a quarter of all infants born to women with HIV became infected. Now it’s less than one percent,” said Richard Rutstein, MD, an HIV clinical research leader and medical director of the Special Immunology Service at The Children’s Hospital of Philadelphia since its inception in 1989. “For those infected, HIV has changed from a rapidly fatal disease to a chronic illness.” Dr. Rutstein is also a professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.

At the front line of this evolution, CHOP researchers are helping infected pregnant women, infants, children, and youth around the world live full, productive lives.

How Precision Medicine is Reshaping Epilepsy Research

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

I composed this original article based on multiple interviews with the investigators.

Excerpt:

The little girl’s epilepsy was so debilitating that she was virtually nonresponsive. Traditional antiseizure medicines could not reduce the five to 20 seizures she experienced daily when she first came to The Children’s Hospital of Philadelphia.

Trying a new approach, her neurologist, David Bearden, MD, prescribed a drug that targeted a molecular pathway involved in her seizures, and within a month, she was seizure-free for the first time since a few days after her birth.

This success excited hope among epilepsy researchers worldwide that other such successful strategies could soon follow. The case exemplifies the popular concept of precision medicine, which is barreling ahead in cancer but not yet common practice in neurologic disorders such as epilepsy.

“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 who was senior author of a case report about the little girl’s treatment (of which Dr. Bearden was first author) in Annals of Neurology in 2014. Her treatment, while not yet analogous to an antibiotic, was more precisely targeted to the underlying mechanism of her seizures than most treatments.

The future need for precision medicine is one that epilepsy researchers are approaching with conscious attention to the field’s strengths and unmet challenges. Dr. Goldberg was a presenter at a precision medicine scientific symposium during the American Epilepsy Society annual meeting in December. His colleague, Dennis Dlugos, MD, MSCE, a CHOP pediatric neurologist, was among the major contributors to an international consortium of researchers who authored a roadmap for precision medicine in epilepsy published in The Lancet Neurology this fall.

On the Trail of a Cancer Predisposition Syndrome

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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.

Giant from Patagonia

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Photo by Robert Clark for EXEL Magazine

Originally published in EXEL Magazine.

Finding a dinosaur in Patagonia is not difficult, if you know what to look for.

It was therefore not a surprise to Drexel professor and paleontologist Ken Lacovara when a member of his field expedition team discovered a dinosaur femur in Argentina in early 2005.

The size of the giant creature it belonged to and the remarkable completeness of its skeleton, however, came as pleasant shock.

(more…)