Tag: genetics

November 2016 Writing for Children’s Hospital of Philadelphia

I wrote the following articles published in November 2016 by the Children’s Hospital of Philadelphia Research Institute:

Linking Patients and Data, Medicine and Science: CAVATICA Data Analysis Platform Launches

Untangling Attention Difficulties in Autism

Smart Robotic Toy Gym Could Identify Early Signs of Babies’ Developmental Delay

Cellular Energy Flaws Studied as Contributor to Schizophrenia

A ‘Critical Mass’ of Mitochondrial Disease Research Accelerates Treatment Quest

CHOP Research In the News: Body and Mind, Stayin’ Alive, ADHD Guidelines, Innovation Leadership

Q&A: How Pediatricians Can Help Suburban Families in Poverty

CHOP Research In the News: From Good Starts to Young Adult Transitions

CHOP Honors Superhuman Abilities of Clinical Research Coordinators

October 2016 Writing for Children’s Hospital of Philadelphia

I wrote (or edited, as noted) the following articles published in October 2016 by the Children’s Hospital of Philadelphia Research Institute:

Scientists Seek Mitochondrial Mechanism to Overcome Cancer Treatment Resistance

Finding of Variability in Antibiotic Prescribing Yields Improvements, Accolades

Project Aims to Automate Adverse Event Reporting in Cancer Clinical Trials

In a Teenager’s Brain, HIV Infection Could Cause Unique Damage

How to Address Four Factors That Limit Gender Equality in Academic Medicine

I noticed a CHOP-affiliated co-author, Dr. Ganetzky, listed on a piece in the journal Academic Medicine calling for action on gender equality. I approached Dr. Ganetzky with the idea for a guest blog post on the subject and worked with her to refine and edit the post for publication.

CHOP Research In the News: Ear Infection Genetics, Childhood Cancer Heredity, Vaccine Anniversary

CHOP, Penn Researchers Share Progress and Tips for Using mHealth Tools

CHOP Research In the News: Cancer Moonshot Yields Data-Sharing Initiatives, Hemophilia Surprise, Mitochondrial Medal

Mentorship in Medicine, Zebras, and Holsteins: Q&A with Elaine Zackai

September 2016 Writing for The Children’s Hospital of Philadelphia

I wrote the following stories published by The Children’s Hospital of Philadelphia Research Institute in September 2016:

Going with the Flow: How Lymphatics is Emerging as Medicine’s Newest Specialty

Pediatricians May Better Help Parents Quit Smoking With Decision Support Tool

Discovering How a Neurological ‘Pit Crew’ Keeps the Brain on Track

Scientists Identify Molecule Controlling Inflammatory Immune Response

Neuroblastoma Drug Candidates Target Key Henchmen of a Supervillain Oncogene

Fresh Hope for Treating a Rare Progressive, Lysosomal Storage Childhood Disease

CHOP Research In the News: Cancer Moonshot, Why Children Get Cancer, and a Push for Vaccination

Patients as Partners and the Legacy of Henrietta Lacks: A Q&A with David Lacks

Do Food Allergies Increase the Risk of Asthma? Key Questions From a New Study

CHOP Research In the News: Emmy Award, Kids and the Cancer Moonshot, Precision Approach to Epilepsy, Concussion Monitoring App

May 2016 Writing for The Children’s Hospital of Philadelphia

I wrote the following stories published by The Children’s Hospital of Philadelphia Research Institute in May 2016:

Studies Support Parent-Teen Communication to Improve Adolescent Health

Mitochondrial Medicine Pioneer Inducted to Italian Academy of Sciences

Seeking Serotonin-Connected Solutions to Heart Valve Disease

Collaborations on Language-Focused Autism Research Gain Momentum

Using Sociology to Outsmart Superbugs

CHOP Research In the News: Regulating Iron, Mother’s Dedication, Knee Troubles

CHOP Research In the News: Summer-Ready Stories about Families, Travel, and Science

April 2016 Writing for The Children’s Hospital of Philadelphia

I wrote the following articles published by The Children’s Hospital of Philadelphia Research Institute in April 2016:

Restoring Balance in the Brain After Concussion

CHOP Oncologist Appointed to Blue Ribbon Panel for National Cancer Moonshot

Teaching a Computer to See Like a Dermatologist

Study Maps Early Connectivity Networks in Newborn Babies’ Brains

CHOP Research In the News: Transgender Youth, Vaccines, and Sleep

In Bench to Bedside: Finding Research Success in Setbacks

Growing Into Healthy Relationships: A Teen Dating Violence Q&A

CHOP Research In the News: Genetic Superheroes, Excess Bone, and Secondhand Smoke

Coordinating Research with 80 Million Participants: A PCORnet Q&A

Hakon Hakonarson Honored for Excellence in Research Mentoring

CHOP Research In the News: Plastic Bronchitis, Baby BMI, Voice at the Vatican

March 2016 Writing for The Children’s Hospital of Philadelphia

I wrote the following stories published by The Children’s Hospital of Philadelphia Research Institute in March 2016, except as otherwise indicated:

CPR for Children Gets Smarter

In this story, I explored a body of research on improvements to in-hospital CPR that CHOP clinician-researchers had been at work on for more than a decade, but that had been under-reported within the CHOP community. Coincidentally, I discovered the story just as the investigators were preparing to be awarded a major NIH grant that put several pieces of their program’s work together, so I was able to announce the grant through this feature article.

Seeing the Impact of a Decade of Genomics Discoveries

This story looks back on the first decade of accomplishments of a center that was established as one of the largest research investments at CHOP at the time. I pursued the story initially due to Dr. Hakonarson’s recognition on the Thomson Reuters “highly cited” list but broadened its focus once I realized that his center’s tenth anniversary was approaching.

A Molecular Balancing Act to Fight Autoimmune Disease and Cancer

I found out about one new grant Dr. Hancock had received. To my surprise, when I met with him for an interview, he mentioned that he had received notice on the same day of another award to study the same molecules but for an opposite effect. It was completely fascinating! This molecular biology story turned out to be one of the most popular articles in our Bench to Bedside publication that month, despite the relative obscurity of its focus.

Concussions’ Unpredictability Underscores Need for Follow-Up Care

Using Doctors’ Certification Requirements to Increase HPV Vaccination

CHOP Honors Distinguished Research Trainees on Poster Day

CHOP Research In the News: DNA Scrunching, Video Games, Smart Drugs

CHOP Research In the News: Obesity, PTSD, and Alice in Wonderland

Staying Safe in the Sun: A Sun Protection Q&A

CHOP’s Foerderer Awards Support Novel Biomedical Research Studies

A Week in the Life of the Research Navigator

For this guest blog post written by Katherine Yang-Iott, I initially proposed the concept of hosting a blog post about Katherine’s new role, approached Katherine, and worked with her to develop a “day in the life” concept into a “week in the life” post. My role included guiding her in how to think about writing the piece through contributing multiple phases of editing to shape the final product.

Discovery Unites Three Families with Rare Syndrome

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.


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).

New Collaboration Uncovering a Mitochondrial Mystery

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

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


Mistakes happen. Inside every cell, the functions of life rely on the basic process of building proteins. But, about half the time, cells make errors when building proteins and have to recycle the pieces and start again. One important player in the cell’s recycling process, an enzyme called N-glycanase 1 (NGLY1), is at the center of a new, fundamental biological mystery that researchers at The Children’s Hospital of Philadelphia are setting out to solve.

Two young patients brought this mystery to the team’s attention. Both children arrived within a short time of each other with symptoms of suspected mitochondrial disease at CHOP’s Mitochondrial-Genetic Disease Clinic, which Marni Falk, MD, directs. Mitochondria are the organelles inside of cells that act as the cell’s energy generator, and diseases of mitochondria can have wide-ranging effects across every organ system and commonly include neurological and cardiac complications.

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

Dr. Falk and her team found that, instead of a primary mitochondrial disease, these two children had an extremely rare genetic disorder that was only recently identified, caused by an inherited deficiency in the protein-recycling enzyme, NGLY1. This was fundamentally weird. There was no evident logical reason for a disease of NGLY1 dysfunction to so closely resemble diseases of mitochondrial dysfunction because the proteins in mitochondria do not require NGLY1’s services, or so says conventional wisdom.

Speeding Up Success with Precision Medicine Cancer Trial

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

I composed this original article based on an interview with the investigator, following up on a CHOP press release.


An innovative new clinical trial launching this year at The Children’s Hospital of Philadelphia may not only help patients who have no further proven treatment options for neuroblastoma, a high-risk cancer, but may also be a model for how precision medicine clinical trials can spur better and faster cancer therapy discoveries in the future.

The trial uses a dynamic design, which allows researchers to quickly translate findings from the lab based on the evolving individual characteristics of each patient’s tumor. It is the first time such a strategy is being applied to a prospective clinical trial in children with cancer. Known as the NExt-generation Personalized NEuroblastoma THErapy (NEPENTHE) trial, it is moving forward with a new $1.5 million grant from Alex’s Lemonade Stand Foundation (ALSF), announced in December.

“The novelty of this trial could be viewed on numerous levels,” said principal investigator Yael Mossé, MD, a CHOP pediatric oncologist and assistant professor at the Perelman School of Medicine at the University of Pennsylvania. “It’s based on rigorous preclinical data, understanding the molecular drivers that are important in this disease. It’s combining multiple novel drugs, not just one at a time. And it’s bringing that to the clinic and assigning patients to therapy based on what their tumor genetics are teaching us at the time that they meet us with relapsed or refractory cancer.”

Going Back to the Future of Obesity and Osteoporosis

Originally published on Cornerstone, the CHOP Research Blog.

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


In medicine, prevention costs a lot less than a time machine. Fifty to 60 years in the future, many of today’s healthy children and teens will develop later-onset chronic conditions including heart disease, cancer, and osteoporosis. But some of the factors that put them at risk are already beginning now. Prevention of these chronic diseases during childhood may be far more effective than treating them later in adulthood, particularly if we can predict today who will benefit most from these preventive efforts in the future.

This childhood prevention of adult disease is the pursuit of Jonathan Mitchell, PhD, an instructor of Pediatrics in the Division of Gastroenterology, Hepatology and Nutrition at The Children’s Hospital of Philadelphia. Dr. Mitchell was recently awarded a training grant from the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health for a study of connections between sleep and obesity risk in teenagers as they transition from middle school to high school. Obese teens tend to become obese adults who face increased risk for heart disease and cancers, so there could be a major long-term public health benefit in understanding how sleep patterns, physical activity-related factors, and genetic factors influence obesity in early adolescence.

“I want to address the question of whether or not short sleep duration leads to the development of adolescent obesity, but we know that other factors, such as physical activity and genetics are also important,” Dr. Mitchell said.