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Birth Defects Awareness, Million Dollar Bike Ride Grant, WAO Center of Excellence, Alopecia and Thyroid Screening, New PolicyLab Video

Published on January 12, 2018 in Cornerstone Blog · Last updated 3 months 3 weeks ago


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The new year brings brand-new opportunities to advance pediatric research at Children’s Hospital of Philadelphia Research Institute, and if the first two weeks of 2018 are any indication, our investigators are off to a remarkable start. With January marking National Birth Defects Prevention Month, the Center for Fetal Diagnosis and Treatment at CHOP embarked on a campaign to raise awareness for birth defect treatments and research. Meanwhile, our friends at PolicyLab released an exciting video communicating their passionate mission to improve the well-being of children and families. This week, we also cover new pathways to discovery for conditions both rare and common, from hyperinsulinism to alopecia. If (like us), your new year’s resolution is to stay up to date with the latest CHOP research headlines, you’re in the right place!

Center for Fetal Diagnosis and Treatment Celebrates 2018 Birth Defects Awareness Month

N. Scott Adzick
N. Scott Adzick

Every year, about 150,000 babies are born in the U.S. with a birth defect that many parents, and even some physicians, might not have heard of. The Center for Fetal Diagnosis and Treatment at CHOP (CFDT), a global leader in fetal research and medicine, provides treatment options and expertise with the mindset that no condition is viewed as too rare. Did you know that the CFDT houses the Garbose Family Special Delivery Unit, the world’s first birthing unit within a children’s hospital focused on healthy mothers carrying babies with serious birth defects? This January, we’re supporting the CFDT in their mission to spread awareness about different conditions and available treatment options as they highlight patient stories and share important facts.

In our 2016 Annual Report, we were excited to describe how a team of CHOP surgeons led by N. Scott Adzick, MD, medical director of the CFDT, successfully pioneered the first fetal surgery for a severe form of spina bifida, myelomeningocele (MMC) — a birth defect traditionally treated after birth but often resulting in a high risk of lifelong disabilities. Today, nearly 300 spina bifida patients have received fetal surgery for MMC at CHOP, many of whom were born healthy and have grown up to live active lives.

“In a relatively short period of time, we have made many advancements to diagnose and treat birth defects earlier than before,” Dr. Adzick said. “Because birth defects still have a serious, adverse effect on the health, development, and functional ability of a child, and given the fact that they account for more than one in every five infant deaths, we must continue to make important breakthroughs.”

Check out the CFDT advocacy toolkit for ways you can get involved, and read the full story of fetal surgery for MMC here.

Dr. Diva DeLeon-Crutchlow Awarded a ‘Million Dollar Bike Ride’  Grant

Diva D. De León-Crutchlow
Diva D. De León-Crutchlow

Every year, the Penn Medicine Orphan Disease Center (ODC) hosts its Million Dollar Bike Ride (MDBR) to raise money for rare disease research. Over 600 cyclists and volunteers convene at the University of Pennsylvania campus for a day of cycling, with trails that go from the heart of the city to the Greater Philadelphia region. This January, the ODC announced that proceeds from the 2017 Bike Ride will fund 33 new grants for 28 institutions worldwide. One of those grants was given to our own Diva De León-Crutchlow, MD, MSCE, pediatric endocrinologist and director of the Congenital Hyperinsulinism Center at CHOP. With collaborators from Massachusetts General Hospital and Boston University, Dr. De León-Crutchlow will conduct a pilot study that examines the safety and efficacy of the Bionic-Pancreas Glycemic-Control System in children and young adults with hyperinsulinism who have developed diabetes and pancreatectomy. The Bionic Pancreas uses an automated system to deliver insulin and glucagon, two important pancreatic hormones. It has been shown to improve blood glucose control in children, adolescents, and adults with Type 1 diabetes. A warm congratulation to Dr. De León-Crutchlow!

Learn more about the Penn Medicine ODC and its annual Million Dollar Bike Ride here.

CHOP Named World Allergy Organization Center of Excellence

The World Allergy Organization (WAO) named the Division of Allergy and Immunology at CHOP and the Section of Allergy and Immunology at the Hospital of the University of Pennsylvania WAO Centers of Excellence — a distinction that will allow our researchers and clinicians to accelerate scientific and clinical innovation, education, and advocacy of allergic diseases and immunologic disorders. WAO Centers of Excellence provide excellence in education, research, and training to stakeholders in allergy, asthma, and clinical immunology.

The Division of Allergy at CHOP is one of the largest pediatric allergy groups in the region and provides comprehensive evaluation and treatment for all aspects of allergic and immunologic issues. Our faculty have helped to formulate many national guidelines used by physicians across the world while basic, translational, and clinical research have helped to advance new medications and therapies for patients. Most faculty members at CHOP are also faculty members in the pediatric department of the medical school at University of Pennsylvania.

“This distinction recognizes not only the groundbreaking research being done at CHOP and Penn, but also the outstanding clinical care we deliver,” said Jonathan Spergel, MD, PhD, section chief of Allergy in the Division of Allergy and Immunology at CHOP. “We extend our thanks to all of the doctors, nurses, and researchers throughout our division, whose hard work helped us achieve this great honor.”

Learn more in the press release.

CHOP Thyroid and Dermatology Experts Featured on Medscape

In a Medscape article published last week, two CHOP experts discussed their findings from a new JAMA Dermatology paper that offers guidelines to screening children with alopecia areata (AA) for thyroid disorders. AA is a relatively common cause of hair loss in children that occurs when the immune system attacks hair follicles, resulting in bald patches. Research remains unclear about AA’s association with other autoimmune conditions, including thyroid disorders. Typically, patients with one autoimmune disease are at risk of having additional forms of autoimmune disease. Along with colleagues at the University of Louisville School of Medicine and Shenzhen Children’s Hospital, Andrew Bauer, MD, director of the Pediatric Thyroid Center at CHOP, and Leslie Castelo-Soccio, MD, PhD, research director of the Dermatology Section at CHOP, conducted a retrospective review of 298 children with AA.

“The most important finding in our study is that we identified a subpopulation of patients with AA for whom thyroid screening would be most appropriate,” stated Dr. Bauer in the Medscape article. “Screening should be done in patients with Down syndrome, a personal history of atopy, a family history of thyroid disease, or findings on exam that suggest that the thyroid also may be part of the clinical picture.”

Read the full story on Medscape.

New PolicyLab Video Heralds More Breakthroughs to Come

Research at CHOP isn’t just about atoms and cells — it involves the analysis and understanding of healthcare systems and practices, too. In case you missed it, be sure to check out a new video from PolicyLab, one of our Centers of Emphasis at the CHOP Research Institute, as they communicate their mission to improve child and adolescent health and well-being through research and actionable policy solutions.


Recently on Cornerstone, we took a look at what’s in store from the Center for Autism Research at CHOP when it comes to using video games and virtual reality to help children with symptoms of autism.

Catch up on our headlines from our Dec. 29 edition of In the News:

  • Innovative Gene Therapy for Inherited Blindness Makes Headlines
  • Pennsylvania Gazette Features Mitochondrial Medicine Research
  • New Multi-Institute Collaboration to Study Traumatic Brain Injury
  • New Blog Post Shares Research Findings on Implicit Racial Bias

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