The Beckwith-Wiedemann Syndrome Program of Excellence (BWS POE), steered by a diverse committee of researchers, clinicians, and patient families, is a comprehensive collaboration of clinical and basic science research focusing on the investigation of short-term and long-term effects of Beckwith-Wiedemann Syndrome on children and adults.
The BWS POE has enrolled hundreds of families in the BWS Registry. With the recent development of an online portal to enhance national and global involvement, families have enrolled from across the United States and around the world. The registry has helped families connect to support each other and serves as a resource for new families. A number of families have also traveled to see specialists in CHOP’s BWS clinic.
A major priority has been increasing the understanding around BWS. Educational material in several languages has been released, and patient family engagement has been paralleled by greater awareness of BWS. Available resources include the Deciphering BWS Conference, educational coloring books and animation, a clinical website, and an educational website.
World-renowned BWS experts in clinical care, diagnostics, and basic science work at CHOP and the University of Pennsylvania. The POE has provided seed funding for novel and integrated lines of research with the goals of:
- improving clinical care and clinical diagnosis
- improving molecular diagnosis
- developing mechanistic understanding of the epigenetic changes causing BWS.
The POE is expanding its cohort and collaborating with institutions across the United States to further improve clinical understanding and management of BWS.
Research Project Highlights
The Beckwith-Wiedemann Syndrome Program of Excellence continues to characterize specific features of BWS through collaborative projects including evaluating sleep apnea (given age at tongue reduction), determining diagnostic algorithms for evaluating adrenal findings, and evaluating patients with Wilms tumor. Some of the BWS research projects underway include:
- Hyperinsulinism in BWS: Building on a previous report of the range of clinical management of children with BWS and hyperinsulinism in collaboration with De León-Crutchlow, MD, MSCE, and the Congenital Hyperinsulinsm Center at CHOP, scientists are clinically and molecularly characterizing patients with both hyperinsulinism and BWS.
- Tongue Reduction in BWS: In collaboration with Jesse Taylor, MD, in Plastic Surgery, BWS POE is investigating the role of tongue reduction for patients with BWS, specifically looking at indications for surgery, age at surgery, and outcomes.
- Obstructive sleep apnea in BWS: Christopher Cielo, DO, in Pulmonology and Sleep Medicine, led a study evaluating the role of sleep apnea as an indication for tongue reduction surgery.
- MRI as a modality for evaluating macroglossia: Dr. Cielo is leading a study to evaluate airway anatomy and its relation to sleep apnea and the need for tongue reduction surgery.
- Placental features in BWS: In collaboration with Rebecca Linn, MD, in Pathology, BWS POE investigators are characterizing pathological features of the placenta in cases of BWS.
- Role of race and ethnicity in BWS: Using the BWS Registry, scientists are looking at clinical trends and features in BWS across diverse ethnic populations.
- Alpha fetoprotein in BWS: The role of AFP in tumor screening has been debated in the literature.
- Parental attitudes towards tumor screening: Scientists evaluated how families are affected by tumor screening.
- BWS experts continue to develop guidelines for specific tumor types and presentations and are working on updating guidelines.
- Large offspring syndrome model: A BWS POE study team is collaborating with Rocio Rivera, PhD, at the University of Missouri to compare some of her findings in a bovine model of BWS with findings from the BWS registry.