KBG Foundation has awarded a 2023 Seed Funding Grant to Dr. Charlotte Ockeloen, clinical geneticist with Radboud University Medical Center, Netherlands, to begin a trial to determine the efficacy and dosing of methylphenidate on attention deficit, behavior, emotional regulation, and general functioning in children and adolescents with KBG syndrome.
The KBG Foundation 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.
The KBG Foundation, has launched its KBG Foundation Natural History Study...which involves answering questionnaires about symptoms to create the most in-depth cross-section of information about this genetic disorder to date.
The American Journal of Medical Genetics Part A has published the original research
article “Tethered Cord Syndrome in KBG Syndrome,” an investigation into the incidence rate of tethered
cord syndrome (TCS) among a cohort of KBG patients.
The KBG Foundation, a U.S.-based nonprofit organization working to improve the lives of people with KBG syndrome, has awarded its third Seed Funding grant to Dr. Victoriano
Mulero.
The KBG Foundation, a U.S.-based nonprofit organization working to improve the lives of people with KBG syndrome, has awarded its second 2022 Seed Funding grant to Dr. Anastassia Voronova, an assistant professor and CanadaResearch Chair in neural stem cell biology at the University of Alberta and a member of the KBG Foundation Scientific Advisory Board.
The University of Bristol in the UK, in collaboration with the KBG Foundation, is working to further understand KBG syndrome in adults.
Watch the information video (verification may be required).
This Study, which is in the form of a patient registry, is intended to become a powerful tool to help better understand KBG syndrome and ultimately find treatments.
Dr. Gholson Lyon, M.D., Ph.D, of the Institute for Basic Research in Developmental Disabilities, who will be conducting research under the Research Foundation for Mental Hygiene, Inc. into the cognitive and behavioral functioning of people with KBG syndrome and the role seizures play in any impairment over time.
Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals from 22 families with molecularly confirmed diagnoses.
Tethered cord syndrome (TCS) is characterized by leg pain and weakness, bladder and bowel dysfunction, orthopedic malformations such as scoliosis, and motor deficits caused by the fixation of the spinal cord to surrounding tissues.
On any given day, thousands of people wake up to a new world. A well-meaning friend will send them the Welcome to Holland story, and they will find all sorts of inspirational memes urging them on and telling them they are superheroes, that they’re “special,” and they “got this.” What do they “got”?