KBG syndrome research - Dr. Anastassia Voronova's lab; University of Alberta; Canada

KBG syndrome (OMIM 148050) is a rare disorder and is named using the initials of the surnames of the first three families diagnosed. KBG syndrome was first described in 1975, and in 2011 was shown to be caused by inherited or de novo (new) mutations in, or gene deletions, of ANKRD11 (Ankyrin Repeat Domain 11). ANKRD11 remains poorly studied and many unanswered questions about the disease mechanism remain. Moreover, there is no cure for KBG syndrome. Our lab studies the pathological origins and the potential for treatments for KBG syndrome using mice as a model organism. We employ a “community to bench to bedside” approach, whereby patient information inform animal studies, which will, in time, be translated into the clinic. Below is the script of the video:

"My name is Anastassia Voronova. I am an Assistant Professor in the Department of Medical Genetics and Canada Research Chair in Neural Stem Cell Biology.


As we often say, the cure for any disease is research. In my lab, we study KBG syndrome focussing on the gene Ankyrin Repeat Domain 11, or Ankrd11, which is mutated in patients with KBG syndrome.


Using mice as a model organism allows us to mimic the majority of Ankrd11 mutations that are observed in KBG syndrome patients. Recently, we published a research paper that validates this model as a tool to study KBG syndrome. Our overall goal is to understand what goes wrong when Ankrd11 is mutated, so we can understand how to repair a specific tissue of interest.


We want to understand how the brain is built and repaired by neural stem cells—the building blocks of our nervous system. If we can figure out how Ankrd11 mutations alter these cells as the nervous system develops, we can begin to look at how these manifest in behaviour. Understanding the cause and timing of these events is essential for the design of novel and precise therapies aimed at repairing those neural insufficiencies. We also ask how and why other organs, such as the heart, do not develop properly when Ankrd11 is mutated.


Here are some of the researchers in my lab who are working hard to answer these questions.


Hi, my name is Kara Goodkey, and I’m a graduate student in Dr. Voronova’s lab. I study how and when Ankrd11 mutations lead to atypical brain development using a pre-clinical mouse model. I’m also developing ways of culturing neural stem cells in a dish, to test whether function can be restored via a pharmacological approach.


Hi, my name is Yana Kibalnyk, and I’m also a graduate student in Dr. Voronova’s lab. I’m studying how Ankrd11 mutations alter heart development and function using the KBG syndrome mouse model. I also study how atypical behaviours arise from Ankrd11 mutations in the nervous system.


By combining both areas of research—Ankrd11 mutations along with neural stem cell recruitment & regeneration—we hope to one day ask how we might repair nervous system function and/or behaviour in our pre-clinical KBG syndrome mouse model—which will ultimately pave the way to the clinic.


We are truly grateful for the participation of KBG patients and their families. KBG community inspires our research questions in the lab. Moreover, and quite simply put, we couldn’t do what we do without the support of donors and the KBG community. We are proud of our research but with rare diseases like KBG, support from donors and the patient community support is crucial. Only with your ongoing help will we be able to continue making discoveries that will, in time, help patients.


If you’d like to learn more about our research, visit our lab if you are nearby, or would like more information on how you can support our work, please don’t hesitate to get in touch with me!"