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Using AI to Revolutionize Kabuki Syndrome Diagnosis: A New Initiative from the Kabuki Syndrome Foundation

LEAP for Kabuki Syndrome Treatments, GestaltMatcher logos

On May 9, 2024, the Kabuki Syndrome Foundation hosted a live webinar featuring Dr. Hellen Lesmann from GestaltMatcher, University of Bonn. This event unveiled our latest initiative aimed at revolutionizing the diagnostic process for Kabuki syndrome using artificial intelligence (AI). For families living with Kabuki syndrome, a timely and accurate diagnosis can significantly improve quality of life and access to resources and clinical trials. Furthermore, by helping more people find their diagnosis faster, we are creating more momentum and more resources for treatment development

How AI Can Diagnose Kabuki Syndrome

GestaltMatcher is an innovative AI program designed to recognize condition-specific facial features, like those seen in Kabuki syndrome. Many genetic disorders have distinct facial characteristics, but the rarity of these conditions means that most doctors have limited experience recognizing them. AI systems like GestaltMatcher can bridge this gap by “learning” to recognize these features and significantly speed up the diagnostic process for Kabuki syndrome and other rare diseases.

How You Can Help

Photos of individuals with a confirmed genetic diagnosis of Kabuki syndrome are needed to help “teach” the AI the common facial features of Kabuki syndrome. Once a patient is “recognized” by the AI, their doctor can order the most appropriate genetic test, saving time and resources.

By contributing to this initiative, you can help improve the care and diagnosis process for others with Kabuki syndrome and accelerate the roadmap to treatments. Interested in sharing 5 photos with GestaltMatcher? Start here.

Why A Genetic Diagnosis is Important

Did you know, a genetic diagnosis not only ensures you receive appropriate medical care but also enables you to participate in clinical research and trials? Plus, a genetic confirmation of Kabuki syndrome can reduce unnecessary testing and provide vital information for family planning.

If you have a clinical diagnosis or a Variant of Uncertain Significance (VUS),  we offer tools to help you advocate for a genetic diagnosis. Our collected resources and tools empower families to discuss genetic testing with their doctors, ensuring you have access to the most up-to-date and can advocate for comprehensive testing.  We are committed to supporting all families affected by Kabuki syndrome, regardless of their diagnostic status. Please contact us with questions any time.

Watch the Webinar

To learn more about the power of your diagnosis and these exciting advancements, watch our webinar on YouTube: Innovations in Diagnosing Kabuki Syndrome, featuring Dr. Lesmann and Kristin Anzelc, KSF Research Ambassador. This recording dives into your critical role in supporting the latest research poised to transform the diagnostic landscape for Kabuki syndrome.

By joining us in GestaltMatcher, you are contributing to a brighter future for all those affected by Kabuki syndrome. Together, we can improve diagnostics and accelerate the path to effective treatments for everyone with Kabuki syndrome.