To drive research efforts that show promise to treat, prevent or cure Kabuki Syndrome through fundraising, knowledge-sharing and collaborating with researchers around the world.
UPCOMING RESEARCH CONFERENCE
Virtual Research Conference October 22-23, 2021
We are excited to announce the return of our annual research conference! This year's conference will feature several of the leading researchers and clinicians in Kabuki Syndrome who will share their latest research initiatives with the community in a virtual setting. This is a FREE event and registration is open! Click below for more information or to register.
Oryzon announces $1 million grant from Kabuki Syndrome philanthropists to support a precision medicine Phase I/II trial with vafidemstat
First clinical trial in precision medicine with vafidemstat in neurodevelopmental diseases
Multicentric study to assess the efficacy of vafidemstat in Kabuki Syndrome patients
Expected to start in early 2022
In collaboration with the Kennedy-Krieger Institute
ABC'S GOOD DOCTOR CASTING CALL
Casting Call for Actors with Kabuki Syndrome for the Hit TV Show "The Good Doctor"!
There is exciting news for the Kabuki syndrome community! ABC hit show, "The Good Doctor" is going to film an episode featuring a character named "Cody" who has Kabuki syndrome!
The casting director is looking for individuals with Kabuki syndrome who are in his/her/their late teens to early 20's to play the role of "Cody." Interested actors need to submit their taped auditions by this Friday, 10/22.
Details about the plot, casting requirements, and submissions are in the attached links below.
This is a huge opportunity for the community to spread awareness of Kabuki syndrome as "The Good Doctor" has a massive following! Special thanks to Dr. Jacqui Harris for pitching the idea to feature a character with Kabuki syndrome to her brother, who is a writer for the show! Please share and spread the word!
All questions can be directed to: email@example.com
WHAT IS KABUKI SYNDROME?
Kabuki Syndrome is a rare, multi-system disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, and skeletal abnormalities. A wide variety of additional symptoms affecting multiple organ systems may occur, and vary from one person to another.
To date, researchers have identified a mutation in one of two genes that leads to Kabuki Syndrome. Males and females are affected equally and the syndrome is found in all ethnic groups. The incidence of Kabuki Syndrome has been estimated to be at least one in 32,000 births in the general population. With increased availability of gene testing, it is expected that two or three times as many cases may be properly diagnosed. There is currently no cure for Kabuki Syndrome.
Source: National Organization for Rare Disorders