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Ear Infection Genetics, Childhood Cancer Heredity, Vaccine Anniversary

Published on October 7, 2016 in Cornerstone Blog · Last updated 5 months 2 weeks ago


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Welcome back to another weekly roundup of research news from the Children’s Hospital of Philadelphia! Exciting and important pediatric research spans everything from conditions that are common and treatable, such as ear infections, to others more rare and deadly, such as cancer. And then there are vaccines, which have virtually eliminated scores of deadly infectious diseases with now-common childhood preventive care. This week’s stories from CHOP run that whole gamut.

Gene Found That Raises Risk of Childhood Ear Infections

For the first time, researchers including collaborators from CHOP have found a gene region associated with increased risk for middle ear infections. Known to parents as one reason for a screaming, unhappy preschooler and known to doctors as acute otitis media (AOM), these infections are among the most common childhood illnesses and the most frequent reason that children receive antibiotics. The finding may offer an early clue to developing more effective treatments and prevention strategies.

“Although microbes cause this condition, it’s been well known that genetics also plays a role,” said study leader Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP. “This is the first and largest genetic study focused on risk susceptibility for acute otitis media.”

The researchers, including Dr. Hakonarson and colleagues at CHOP collaborating with Dutch researchers at the University Medical Center, Rotterdam, performed a genome-wide association study (GWAS) on DNA samples from 11,000 children in two cohorts. They found that an association between AOM and a site on chromosome 6 containing the gene FNDC1, and then replicated the finding in an independent pediatric cohort with data from 2,000 children. Co-first author Jin Li, PhD, of CHOP, was the lead analyst on the study. In further studies, the scientists showed that the mouse gene corresponding to FNDC1 was expressed in the animal’s middle ear.

The study was published online last week in Nature Communications. Read more in the CHOP press release.

Understanding Heritability and Genetics of Childhood Cancer

The more scientists learn about cancer, the better they are able to predict when individuals and families are at genetic risk. But then what? An article in the Wall Street Journal this week delves into the state of the science and the attendant challenges of understanding childhood cancer genetics and heritability.

Several leading children’s hospitals, including CHOP, now have cancer predisposition clinics that treat and screen children who have genetic risk of cancer.

“The assumption is it would improve survival,” CHOP pediatric oncologist John Maris, MD, told the Wall Street Journal.

The article surveys recent research that has begun to get at the question of why children get cancer to begin with and notes that some genetic mutations associated with elevated cancer risk only cause the disease in a fraction of people who have them, such as 20 to 25 percent.

“It’s a significant risk, but it skips a generation or two,” Dr. Maris said. “These are the factors we have to grapple with as we come up with recommendations for how to use this information to benefit patients.”

Read the full article in the Wall Street Journal. Read more perspectives from Dr. Maris about why children get cancer on the St. Baldrick’s Foundation blog and here on Cornerstone.

Marking a Milestone: Thousands of Children Saved in a Vaccine’s First Decade

“Before rotavirus vaccination, roughly half a million children would go to U.S. emergency rooms every year from this infection,” said Paul Offit, MD, director of the Vaccine Education Center at CHOP, and one of the three co-inventors of Rotateq®, the first of two major vaccines that block rotavirus, a major worldwide killer of children under five. “Of that number, 75,000 children would be hospitalized with severe dehydration, and 20 to 60 would die. Today, child hospitalizations from rotavirus have dropped by 85 percent in this country.”

This week, Dr. Offit and one of his co-inventors, Stanley Plotkin, MD, joined Penny M. Heaton, MD, director of Vaccine Development at the Bill & Melinda Gates Foundation, and leaders from The Wistar Institute and the Centers for Disease Control and Prevention to celebrate the tenth anniversary of the vaccine’s approval by the U.S. Food and Drug Administration. The early research that culminated in the Rotateq® vaccine’s approval in this country was conducted at CHOP and Wistar.

Worldwide, more work remains to be done.

“Rotavirus kills almost 2,000 children each day throughout the world, but as the vaccines get into low-income parts of Asia, Africa, and Latin America, they will save hundreds of children’s lives per day,” Dr. Offit said.

The Bill & Melinda Gates Foundation is supporting a global campaign to bring rotavirus vaccination to areas that need it most.

Read more about the anniversary and history of rotavirus vaccine in the press release from The Wistar Institute and CHOP. Read more about Dr. Offit in Bench to Bedside.


In case you missed it earlier this week on Cornerstone, we featured a guest blog post on achieving gender equality in academic medicine from genetics research fellow Rebecca Ganetzky, MD. Dr. Ganetzky is liaison from the Organization of Resident Representatives to the Group of Women in Medicine and Science for the Association of American Medical Colleges and co-author of the group’s recent call to action on this topic.

Last week’s In the News post covered the launch of a new collaborative to broaden the scope of individualized genetic medicine at CHOP, several new grant awards for oncology received by CHOP researchers during Childhood Cancer Awareness Month, an update on a cancer survivorship texting study, and an autism study focused on baby teeth and baby siblings.

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