Tag Archive for: Clinical research

2022 Hackathon logo

Addressing health equity issues through an app innovation competition

Children’s National Hospital launches The Health Equity in Research Hackathon — a team-based collaborative competition that empowers researchers to address health equity issues in the community through innovative apps. A panel of expert judges will select winning app ideas for full development, including finding grant opportunities, access to mentors and collaborators.

The big picture

“This Hackathon is a great chance for our research community to address larger issues related to advancing health equity within translational and clinical research,” said Patrick O’Keefe, administrative director for the Clinical and Translational Science Institute at Children’s National (CTSI-CN). “We are thrilled to see how people collaborate to create solutions for big problems that have traditionally slowed research and contributed to the vast inequities in health we see today.”

Additional details

The 2022 hackathon will be a two-part event. During Part I, slated for June 17, participants will gather in diverse teams to discuss and refine the selected app ideas. They will learn from technical and scientific experts and brainstorm app-based approaches to address health equity.

Each team will pitch their ideas to a panel of judges, and the winning app(s) will advance to Part II of the hackathon planned for Fall 2022, where app developers will build the selected apps.

“We encourage anyone at Children’s or George Washington University to submit an app idea – even if it is not fully formed — as long as they think it would help reduce health disparities through improving the research process,” said Lisa Guay-Woodford, M.D., director for Clinical and Translational Science Institute and Center for Translational Research at Children’s National. “We also hope researchers, staff and students who don’t have app ideas at this time will consider attending anyway to participate in the lively development process of the Hackathon.”

Anyone within the Children’s National and George Washington University research communities can submit an app idea for consideration. No app development experience is necessary to enter.

Why it matters

Health equity also means bringing the community into the research process. Thus, in part II, Children’s National will partner with high schools and universities in the area to incorporate voices who are often under-represented in the science and technology field.

“Our community is home to brilliant young minds at our local high schools and universities,” said Chaya Merrill, Dr.P.H., director for Child Health Data Lab at Children’s National. “We are excited to create an opportunity for them to work alongside experienced app builders – at the intersection of health equity and technology – by engaging in Part II of the Hackathon to build the winning apps!”

The hackathon will take place at Children’s Research and Innovation Campus in partnership with CTSI-CN and the Center for Translational Research.

The app idea submission deadline is on May 20, 2022, by 5pm. You may apply here. If you have questions about completing this submission, please email Patrick O’Keefe at pokeefe@childrensnational.org.

2022 Hackathon logo

Test tube that says IGF-1 test

PAPPA2: A genetic mystery

Test tube that says IGF-1 test

What would happen if you suddenly stopped growing at age 12 or 13?

Solving genetic growth mysteries and scheduling regular appointments with pediatric endocrinologists is atypical for most parents and pediatricians.

However, for children with growth disorders – a classification that typically describes children below the third or above the 97th percentile of growth charts for their age – receiving a diagnosis is half the battle to reaching average height. Understanding and creating treatment for a growth disorder, which could stem from an underlying medical illness, a genetic mutation or a problem with endocrine function, such as the production or action of growth hormone, is often the next step.

For Andrew Dauber, M.D., MMSc., the chief of endocrinology at Children’s National Health System, a third step is to use these clues to create larger datasets and blueprints to identify risk factors for rare growth disorders. By understanding genetic markers of growth disorders, endocrinologists can identify solutions and create plans for multidisciplinary care to help children reach developmental milestones and receive coordinated care throughout their lifespan.

A case study that Dauber and his research team continue to explore is how to correct for mutations in the PAPPA2 gene, which regulates human growth by releasing a key growth factor called insulin-like growth factor 1 (IGF-1). Dauber and his colleagues recently described a mutation in PAPPA2, observed in two families with multiple children affected with significant short stature. He found that this mutation decreased the bioavailability of IGF-1, stunting the growth and development of the children who carry this mutation.

While the PAPPA2 mutation is rare, endocrinologists, like Dauber, who understand its function and dysregulation can create solutions to support IGF-1 bioavailability, thereby supporting healthy growth and development in children.

Understanding barriers to IGF-1 function can also help researchers gain insight into the relationship between PAPPA2, levels of circulating insulin in the body, which could cause insulin resistance, and other growth hormones. For now, Dauber and his research team are exploring how to use PAPPA2 to increase IGF-1 in circulation among people with height disorders in the hopes of improving their growth.

“The population of children who have PAPPA2 mutations is small and we’re finding out that two children could respond to the same treatment in different ways,” says Dauber. “One medication could work modestly in one child and support short growth spurts, such as growing by 5 or 6 cm a year. It could also create undesirable side effects, such as headaches and migraines in another, and render it ineffective. However, the clues we walk away with enable us to test new solutions, and confirm or dissolve our hunches, about what may be preventing the bioactive release of essential growth hormones.”

To generate controls for healthy patterns of growth and development, Dauber and his research team are analyzing the relationship between PAPPA2, STC2 and IGFBP-3 concentrations among 838 relatively healthy pediatric participants, ages 3-18, with traditional growth patterns.

They are studying PAPPA2, STC2 and intact IGFBP-3 concentrations throughout childhood and the researchers are already surprised to find PAPPA2, a positive modulator of growth and IGF- bioavailability, decreased with age, while STC2, a negative modulator and traditional growth inhibitor, increased with age.

“As pediatric endocrinology researchers and clinicians, we’re looking at the pathology of traditional growth patterns and growth disorders with an open mind,” says Dr. Dauber. “These data sets are invaluable as they confirm or challenge our theories, which enable us to create and test new forms of personalized treatments. We’ll continue to share this knowledge, which informs other researchers and accelerates the field of pediatric endocrinology.”

This research was presented at the annual meeting of the European Society of Pediatric Endocrinology in Athens on Sept. 28, 2018.

Dauber and his research team will present their findings at endocrinology conferences and grand rounds throughout 2018 and 2019.

To view Dr. Dauber’s most recent research and pediatric endocrinology reviews, visit PubMed.

Roger Packer, M.D., elected Pediatric Co-Chair by the National Cancer Institute’s Brain Malignancies Steering Committee

Roger Packer, MD

Roger J. Packer, M.D., Senior Vice President, Center for Neuroscience & Behavioral Health at Children’s National Health System, has been elected by the National Cancer Institute’s Brain Malignancies Steering Committee (BMSC) as the committee’s new Pediatric Co-Chair.

One of 16 steering committees formed in response to the recommendations of the Clinical Trials Working Group mandated by the National Cancer Advisory Board (NCAB), the BMSC’s goal is to promote the best clinical and translational research for patients with brain cancer by critically reviewing Phase 2 and Phase 3 clinical trial concepts.

Dr. Packer also directs the Brain Tumor Institute and is principal investigator for the Pediatric Brain Tumor Consortium (PBTC), formed under the auspices of the National Cancer Institute (NCI). He has worked closely with the NCI and the National Institute of Neurological Disorders and Stroke (NINDS), and has served on multiple committees setting the directions for neurologic clinical and basic science research for the future. Much of Dr. Packer’s clinical research has been translational in nature. He has been part of studies evaluating the molecular genetics of childhood and adult neurologic diseases, and has also coordinated the first gene therapy study for children with malignant brain tumors in the U.S.