Exciting Research Studies In Progress:
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The KBG Syndrome Association is thrilled to announce a new research partnership with Phoenix Children’s Hospital and Dr. Michael Kruer’s research lab. This collaboration marks a meaningful step forward in advancing our understanding of KBG Syndrome—especially the critical question of why it occurs. Dr. Kruer is a leading physician-scientist specializing in pediatric neurology, neurogenetics, and rare disorders. His lab is internationally recognized for studying how genetic changes impact brain development and function, with a strong focus on translating discoveries into real-world therapies. Together, we are launching new research efforts beginning with a study focused on drug repurposing. By identifying the biological “signatures” of KBG Syndrome, this work aims to uncover existing medications that could be repurposed to help cells function more typically—potentially accelerating the path to meaningful treatments.
The BEOND study is now open to families with KBG Syndrome! What is the BEOND study? “BEOND” is a survey study run by the Cerebra Network (www.cerebranetwork.com). The survey will be completed by parents/caregivers of children and adults with KBG syndrome. There are questions about a range of topics important for KBG syndrome, including wellbeing, emotion, behavior, health, and cognition. What are the study aims? 1) To collect data from people at different points in their lives to see how they develop over time. 2) Describe a range of clinical outcomes and identify what predicts these outcomes. 3) Identify common strengths and difficulties shared across diagnostic groups, as well as specific strengths and difficulties within diagnostic groups. Through these aims we hope to offer better ideas for support provision in the future. Who can take part? Parents/caregivers of a person who is 1) diagnosed with KBG syndrome, and 2) at least one year old (no upper age limit). The study is open to families in all countries. What does taking part involve? You will be asked to complete a survey which includes 12 questionnaires, taking about 60 minutes to complete in total. This can be done in one sitting or multiple sittings. After completing the survey, you will also have the option to complete an additional questionnaire (5 minute completion time) and/or an interview. What do I get for taking part? Those families who complete the survey will receive individualized feedback reports to put the information back into your hands and a £20 Amazon voucher. Where can I learn more and take part in BEOND? You can find more information about BEOND at the Cerebra Network website (https://www.cerebranetwork.com/beond-kbg). Alternatively, you can email Dr Rory O’Sullivan at r.osullivan@bham.ac.uk
JIA and KBG Syndrome We are helping support an important effort to better understand the connection between KBG Syndrome and Juvenile Idiopathic Arthritis (JIA)/rheumatologic conditions. Researchers are working to collect and review cases from individuals within the KBG community for a potential scientific publication. If your child or family member with KBG Syndrome has experienced: • Juvenile Idiopathic Arthritis (JIA) We would love to hear from you. The research team is hoping to gather information including: 🔹 KBG features/phenotypes 🔹 Rheumatologic diagnosis and treatments 🔹 Genetic variant/genotype information 🔹 Rheumatologist contact information This collaboration may help improve recognition, understanding, and future care for individuals with KBG Syndrome experiencing rheumatologic complications. If your family is interested in participating or learning more, please contact us at kbgsyndrome@gmail.com