It has long been thought that the root causes of intellectual disability cannot be treated or cured. However, a growing body of research suggests that a rare genetic condition known as Kabuki syndrome (which we explored in the previous episode) might offer a path forward in being able to treat, and partially reverse the effects of some types of intellectual disability.

On this episode of One Rare Heart we speak with a physician/scientist at the forefront of this research, Dr. Hans Bjornsson, and hear about how his search for answers is also calling into question the medical establishment's long-held dogma surrounding intellectual disability.

As Dr. Bjornsson seeks to provide therapeutic options that could help bolster intellect in the neurodivergent community, the ramifications of his work could be immense, especially for individuals with Kabuki syndrome and related disorders. Take this opportunity to engage with Dr. Bjornnson's exciting research as he shares about his work and as we learn more about the needs of this at-risk and unique community that he seeks to serve.

EPISODE GUEST

Dr. Hans Bjornsson – Dr. Bjornsson is a physician/scientist who runs research laboratories at the University of Iceland and at Johns Hopkins University. Both of his labs focus on identifying the causes of intellectual disability in Kabuki Syndrome, and on the development of therapeutic treatments that could potentially help ameliorate the effects of intellectual disability in individuals with Kabuki, and related disorders. At Johns Hopkins he is Associate Professor of Genetics and Pediatrics, as well as Associate Director of the Epigenetics & Chromatin Clinic. He is also a Full Professor of Translational Medicine and Pediatrics at the University of Iceland, and is Director of Clinical Genetics at the University of Iceland Hospital.

SUPPORT BJORNSSON LABS

Please consider supporting Dr. Bjornsson and his groudbreaking research. You can find more information about his work, his laboratories and how to support this research HERE.

KABUKI SYNDROME - CLINICAL TRIALS

If you or someone you know is interested in taking part in the HOPE clinical trial mentioned in this episode (which is a collaboration between Johns Hopkins University and Oryzon), or other related studies, you can find more information by visiting the research page of the Kabuki Syndrome Foundation.

NEURO-DIVERSITY

Click HERE to learn more about intellectual disability as a form of neuro-diversity, and how you can better support individuals who are neuro-divergent.

Kabuki Syndrome, Part 2 - A Treatable Cause of Intellectual Disability

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