Recent Press Releases

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MANCHESTER, Md. -- 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.

Ockeloen, who has published several papers helping to define the phenotype of KBG syndrome, is a member of the KBG Foundation Scientific Advisory Board.

“Behavioral issues are a frequent feature of KBG syndrome, and I and my team have already seen a number of patients, particularly with ADHD-related symptoms even without a formal ADHD diagnosis,” Ockeloen said. “I’m grateful to the KBG Foundation for its support in further studying a potential treatment for some of the most common KBG symptoms.” 

Ockeloen’s project is the fifth to receive funding from the KBG Foundation. The Seed Funding Program is intended to expedite research projects by supporting investigative research into KBG syndrome and ANKRD11 or otherwise enabling projects exploring KBG syndrome and potential treatments to move forward. 

“So many people in our KBG community struggle with attention, behavior, emotional regulation and impulse control issues and continually have to try different medications,” said Annette Maughan, CEO and cofounder of the KBG Foundation. “We are looking forward to learning from a study focused specifically on our children and adolescents, and we thank Dr. Ockeloen for her work.”

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.

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.

CURRENT RESEARCH

Manchester, Md. -  The KBG Foundation, a U.S.-based nonprofit organization with international partnerships working to improve the lives of people with KBG syndrome, has launched its KBG Foundation Natural History Study. 

People with KBG syndrome or their legal caregivers are urged to participate in the study, which involves answering questionnaires about symptoms to create the most in-depth cross-section of information about this genetic disorder to date.

Information about the study and how to participate is available on the KBG Foundation’s website. 

“We are incredibly excited to have launched this study, and we urge anyone with a confirmed diagnosis to take part,” said KBG Foundation CEO Annette Maughan. “The sooner we build a strong pool of data, the sooner the research community can use this new source of information to better understand this syndrome and find treatments.”

The study is powered by Across Healthcare’s Matrix platform, which will securely store the de-identified patient information. In addition to creating a data pool that will be valuable to the research community, the platform has numerous consumer-focused features that are available to participants. 

Across Healthcare’s Matrix platform connects patients, caregivers, providers and researchers in order to collect data, provide a vast community, and advance toward the goal of finding answers and discovering cures.

Patients and researchers interested in learning more about the registry should visit KBG Foundation/Natural History Study or contact research@kbgfoundation.com.

LEARN MORE

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. Learn more at www.kbgfoundation.com, or follow us on Facebook, Twitter and LinkedIn.

BALTIMORE, Maryland, March 24, 2023

Manchester, Md. – 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.

Patricia Weltin and Annette Maughan, both mothers of children with rare diseases, are coauthors of the paper. Each has had to become a strong advocate to ensure their children received the correct diagnosis.

“This started with a conversation with Patricia about some symptoms my son was experiencing,” said Maughan, who cofounded the KBG Foundation. She reached out to others within the Foundation’s private Facebook group and found out she wasn’t alone.

“Through more research and polling within the KBG Syndrome Families Group, we realized that tethered cord should be highly suspected when specific symptoms are present in the KBG syndrome-affected individual,” Maughan said.

Tethered cord occurs when the spinal cord fixes to surrounding spinal tissues and is associated with sensory and motor deficits, leg pain and weakness, bladder and bowel dysfunction, and scoliosis or other orthopedic malformations. It can be corrected with surgery. Weltin brought their findings to internationally renowned neurosurgeon Petra Klinge, neonatologist Pankaj Agrawal and others to compile and present the data. After peer review, the paper was published online and appears in the March print edition of the American Journal of Medical Genetics Part A. In addition to Klinge, Agrawal, and Weltin,  co-authors are Maughan, Sonia Hills, Alisa Pugacheva, Sarah U. Morton and Henry A. Feldmen.

“This paper is possible because of the involved members in the KBG Syndrome Families Facebook group and the willingness of Dr. Klinge, Dr. Agrawal and the other coauthors to listen to the patient community,” Maughan said. “By identifying this and alerting both patients and physicians, we may see earlier diagnoses of tethered cord, which can be treated with surgery and result in greatly improved quality of life.”

KBG Foundation | P.O. Box 251 Manchester, MD 21102 | contact@kbgfoundation.com

The KBG Foundation is a 501(c)(3) organization.

READ THE ABSTRACT

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.

Patricia Weltin is the mother of two children living with Ehlers-Danlos Syndrome (EDS), a rarely-diagnosed, multi-systemic connective tissue disorder. In an effort to improve the quality of life of her daughters, Patricia began researching possible treatments for EDS and the underlying issues which contribute to its many comorbidities. Her work as CEO of Beyond the Diagnosis, a traveling art exhibit of rare disease children, led Patricia to make connections among many rare diseases, with a special interest in the prevalence of Tethered Spinal Cord in the rare population.

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.

BALTIMORE, Maryland, January 8, 2023

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. 

Dr. Mulero is a biology professor at Universidad de Murcia, Spain. For the past 15 years, his lab has focused on identifying novel prognosis biomarkers and therapeutic targets for rare disease, as well as chronic inflammatory, infectious and blood diseases using the zebrafish model.

“I am thankful for the KBG Foundation’s support and the trust it places in our team,” Mulero said. “This is a great responsibility for us, and we are very happy and committed to contribute to the understanding of KBG syndrome, and if possible, to developing new therapies for patients.”

The KBG Foundation’s $10,000  grant will support Mulero’s work toward developing three preclinical zebrafish animal models of KBG syndrome harboring the most prevalent ANKRD11 variants observed in patients and to set up a platform with this model for the identification of novel drugs for treatment. The results of the project will allow the development of preclinical KBG syndrome models for the identification of new drugs with the aim of requesting its designation as orphan drugs for the treatment of this disease.

“The KBG Foundation was able to award three seed funding grants in 2022, each of which will follow a different path toward understanding KBG syndrome,” said Annette Maughan, CEO. “We are immensely grateful to all the donors who have made it possible for us to identify and help fund research into this syndrome, which can have such an impact on the people who live with it, as well as their families.”

Applications for the 2023 KBG Foundation Seed Funding grant cycle are due April 30, 2023. For information about the grant and how to apply, see the KBG Foundation website.

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.

BALTIMORE, Maryland, December 27, 2022  -  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 Canada Research Chair in neural stem cell biology at the University of Alberta and a member of the KBG Foundation Scientific Advisory Board. 

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 $10,000 KBG Foundation Seed Funding grant will support Dr. Voronova’s research into identifying  the crucial time window where the function of ANKRD11 is critical for brain development. Her work will be important to laying the groundwork for potential therapeutics focusing on the ANKRD11 function rescue.

“I am incredibly grateful to the KBG Foundation for this support. It will help us to develop preliminary data using the KBG syndrome mouse model to identify when, where and why certain KBG syndrome specific pathologies occur,” Voronova said. “This information will be invaluable for future translational efforts.”

The first Seed Funding grant was awarded to Dr. Gholson Lyon, another member of the KBG Foundation Scientific Advisory Board. In 2022, Lyon and Voronova were instrumental in expanding and connecting the KBG syndrome scientific community by co-hosting two international research summits.

“The Foundation is ecstatic to assist in funding Dr. Voronova's important work of understanding KBG syndrome. The Voronova lab has already produced exciting research demonstrating how mutations in the ANKRD11 gene cause some of the symptoms associated with KBG syndrome,” said Annette Maughan, CEO of the KBG Foundation. “We are grateful for the commitment she has shown to the KBG community.”

Applications for the 2023 KBG Foundation Seed Funding grant cycle are due April 30, 2023. For information about the grant and how to apply, see the KBG Foundation website.

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.

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