Press Release

---

MANCHESTER, Md. (Aug. 31, 2023) — The KBG Foundation, a U.S-based nonprofit organization working to improve the lives of people with KBG syndrome, has awarded a 2023 Seed Funding Grant to Dr. Karen Low and Dr. Allan Bayat to launch an international study that delves into quality-of-life issues among adults with KBG syndrome.

“We think understanding what life looks like to adults with KBG syndrome is an important topic to address and are happy to see it approached in this scientific way,” said KBG Foundation CEO Annette Maughan. “We are grateful for the interest in our community that both Dr. Low and Dr. Bayat have already shown us through their work.”

This study will look specifically at whether some of the medical and developmental issues that people with KBG experience resolve by adulthood, as well as identify any that may arise later in life. The researchers have begun working with the Foundation to prepare this study, which is expected to launch in late fall 2023.

Low, a consultant clinical geneticist with University Hospitals Bristol and Weston NHS Trust, has co-authored several scientific articles on KBG syndrome and is an NIHR fellow undertaking research in pediatric genetic syndromes at the University of Bristol. She is a member of the KBG Foundation Scientific Advisory Board and was instrumental in including KBG syndrome in the ongoing BEOND study of behavior.

“Capturing more information about the lives of adults with KBG syndrome will be helpful not only for patients, or parents of young people with KBG, but for professionals in health care, education and research,” Low said.

Bayat is a pediatric neurologist involved in research in epilepsy genetics and precision therapy at the Danish Epilepsy Center, Filadelfia and the Department of Drug Design and Pharmacology at University of Copenhagen, Denmark. He co-authored the recently published paper, “Deep Phenotyping of the Neuroimaging and Skeletal Features in KBG syndrome: A Study of 53 Patients and Review of the Literature.”

“By collecting data directly from the patients, we can gain insights into aspects of the syndrome that may be missed or underreported by healthcare professionals,” Bayat said. “Our study will help give a more detailed picture of what the daily lives of adults with KBG are like.”

KBG syndrome is a rare genetic disorder caused by a mutation on the ANKRD11 gene and associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioral disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems. Most people with KBG share at least some physical traits, including a triangular face, heavy eyebrows, curved fingers and spine, and short stature.

The KBG Foundation is a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG syndrome. For more information about the Seed Funding program and other initiatives or to donate, visit https://www.kbgfoundation.com/home.html.

Funded by the generous donors to the KBG Foundation, we are happy to partner and support research opportunities into KBG syndrome.