Biomarker discovery in KAT6A for translation into clinical trials
For KAT6A syndrome and other neurodevelopmental disorders, researchers are starting to understand the dysregulated cellular processes affecting neurons and their supporting cells. The Chromatin Disorders Research Team at Murdoch Children’s Research Institute is currently using a mouse model, alongside human cortical neurons to study gene expression and metabolomics KAT6A syndrome, in collaboration with Professor Anne Voss at the Walter and Eliza Hall Institute of Medical Research. This work is being led by PhD student Dr Sarah Donoghue and supervised by Professor David Amor and Professor Paul Lockhart. The goal of this project is to understand the differences in brain development that occur in KAT6A syndrome, and to identify biomarkers that may show response to treatment in clinical trials.
The team is looking to extend their work on blood biomarkers in KAT6A mice to children and adults with KAT6A syndrome. In this project, they will measure a range of molecular compounds in blood samples from human participants with KAT6A syndrome, using untargeted metabolomic and proteomic analyses. They will compare the plasma profile of 50 KAT6A syndrome participants to the plasma samples of 20 participants without KAT6A syndrome. The aim is to identify biomarkers that are detectable in the plasma of participants with KAT6A syndrome, with the hope that these can be translated for use in clinical trials, as an objective measure of treatment efficacy as the community proceeds to clinical trials.
In August 2021, after years of specialist appointments, genetic testing, and searching for answers, our world changed when my son, Christopher, was diagnosed with KAT6B syndrome, a rare genetic neurodevelopmental disorder. From birth, we knew he was different. He was a beautiful baby, but as he grew, developmental delays, coordination struggles, and communication difficulties became more apparent. His list of disabilities kept growing, While his KAT6B diagnosis gave us clarity, it also meant adjusting to a future filled with complex disabilities, therapies, and lifelong support needs.
Now, in 2025, Christopher is 10 years old. Every day brings battles, but through it all, he remains the strongest, most resilient little boy I know.
His journey is not just one of struggle, it is a story of resilience, determination, and unconditional love. And that is something truly worth celebrating.
Grateful for the KAT6 Foundation
Through all these struggles, we are incredibly grateful for the KAT6 Foundation and the strong, supportive community it has built. When Christopher was diagnosed, we felt lost, unsure of where to turn. But through the foundation, we found resources, expert guidance, and most importantly other families who truly understand.
The foundation has given us hope, showing us we are not alone. There are others, just like us, fighting the same battles and celebrating the same victories, no matter how small.
We are forever thankful for this incredible community and the strength, love, and advocacy it provides.
Jade Greatbatch
South Australia
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It’s time to gear up for International Rare Disease Day!
We urge you to wear stripes and KAT6 awareness clothing to show your solidarity for our very rare community.
Last year we had several families advocate for RDD in their communities, schools and even in the press.
Ways you can support Rare Disease Day 2025:
Purchase an awareness T-SHIRT or other merch from The KAT6 Foundation Shop. We have several different “Rare” t-shirt designs to choose from to show your support for individuals living with KAT6 and other rare diseases.
In an effort of global solidarity, you are invited to light or decorate your home with the Rare Disease Day colors at 7 PM your local time on February 28, 2025. #LIGHTUPFORRARE
SHARE YOUR STORY with us and we will feature you in our blog and on social media. Email your story to support@kat6a.org. Include a feature photo.
Spread awareness in your child’s school. Use this toolkit to help guide you in your conversations with young children and teenagers. Print these coloring pages to use in the classroom and share this informational flyer.
DONATE to the KAT6 Foundation, Inc so that we can continue to drive research, support families and raise awareness. We challenge you to encourage your friends and family to donate $6 on this day for our KAT6 community.
Share KAT6 Foundation’s Rare Disease Day graphics on social media. Download them here.
We are delighted to share that the Chan Zuckerberg Initiative’s, Rare As One Network Cycle 1 Impact Report, is now live on CZI’s website. The report includes our foundation’s individual and collective accomplishments during and after the grant period (2019-2023). Additionally, we are excited that the report and its key findings were published on December 9, 2024 in Endpoints News. We are continuously grateful to have been selected as a Rare as One participant in 2019 and for the opportunities awarded to us through their partnership. We look forward to continuing to develop new research opportunities and collaborations as we seek future sustaining funding opportunities.
We hope you will read the two-page summary, KAT6 Foundation’s respective case study, to learn more about the progress and achievements of our foundation since being awarded $600,000 in grants from CZI.
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This call for proposals invites research across basic and translational sciences aimed at improving outcomes for individuals with KAT6A or KAT6B gene variations. The foundation has historically funded individual research projects in the range of $10,000 and $50,000 annually. If you are interested in submitting a proposal outside of this range, please contact the foundation at kat6a@yahoo.com.
2024 – 2025 Priority Areas
Fundamental and pre-clinical research
Structure of KAT6A or KAT6B proteins
KAT6A or KAT6B gene expressions
KAT6A or KAT6B epigenetic signatures
Metabolomics
KAT6A or KAT6B disease modeling using iPSC
Basic science addressing a specific gap in the current KAT6A or KAT6B research profile
Study of KAT6A and KAT6B phenotype
Cognitive profile of children with KAT6A or KAT6B gene variations
Speech and language pathways in individuals with KAT6A or KAT6B gene variations
Gastrointestinal dysfunction in children with KAT6A and KAT6B gene variations.
Neuromuscular research in KAT6A and KAT6B gene variations.
Translational research and drug discovery
Research leading to therapies to improve neurodevelopmental outcomes in individuals with KAT6A or KAT6B gene variations
Development of therapeutic approaches with a curative intent
**Applicants are encouraged to demonstrate inter-institutional collaboration and a strong focus on patient-centered research in the research proposal.
Grant winners will have the opportunity to present their work at the KAT6 Foundation Annual Conference. Travel, meeting registration, and accommodation will be sponsored by the Foundation.
KAT6 Foundation Policy on Indirect Costs
The KAT6 Foundation does not allow the inclusion of indirect costs (overhead expenses) in any grant-funded projects. All awarded funds must be allocated exclusively to direct costs, such as personnel, research supplies, equipment, and other expenses directly related to the proposed project.
Applications are due by 11:59 PM (US,EST) on February 28, 2025
BUILD a stronger support network for people with KAT6 Syndrome and their families by assisting caregivers when they need help the most through support groups, webinars and conferences.
EMPOWER families by providing grants for assistive equipment, technology and therapies.
FUND groundbreaking research to find treatments that improve the lives of individuals affected by KAT6 Syndrome.
EDUCATE health care professionals to improve quality of patient care, accelerate diagnoses through genetic testing, and expand our KAT6 medical network.
Please take a look at all the ways you can make an impact and share this page with your family and friends.
Join us for an informational webinar that will provide strategies to effectively describe signs and symptoms of pain in children and adults with neurodevelopmental disabilities.
The presentation will address:
KAT6 Disorders – challenges identifying sources of pain and distress
Common things are common – when this can be helpful
Pain: chronic, acute, acute-on-chronic
What is your son’s or daughter’s baseline?
Insights from basic activities of daily living
Standardized descriptive measures of pain and distress for children and adults
the Revised FLACCR (face, legs, activity, cry, consolability scale)
the Non-communicating Children’s Pain Checklist – Revised (NCCPC-R)
the DisDAT (distress and discomfort assessment tool)
Non-Communicating Adults Pain Checklist
Chronic Pain Scale for Nonverbal Adults With Intellectual Disabilities (CPS-NAID)
There will be a Q&A at the end of the webinar.
About the Presenter:
Bev earned a Master of Science in Occupational Therapy from McMaster University in 2012. She also received an Honours Bachelor of Science degree from the University of Waterloo in 1988 and a Master of Science degree from McMaster University in 1992. Prior to becoming an occupational therapist, her career path included research, teaching and administrative positions in both industrial and post-secondary academic settings. Inspired by her volunteer work with children and adult developmental services and her personal experience with occupational therapy services, Bev returned to McMaster University to study occupational therapy. Upon her graduation in 2012 she received the CanChild Research Convocation Award. Bev and her family moved to British Columbia in 2012. She is currently working with pediatric clients as well as adults with brain injuries. In her spare time she enjoys cooking, skiing at Grouse Mountain on sunny days, and reading, especially medical and rehabilitation journals.
Join Us on Zoom:
You can obtain the Zoom link in the KAT6 Support Group on Facebook, or email support@kat6a.org.
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ATTENTION RESEARCHERS:
The KAT6 Foundation is addressing a critical research priority raised by families—gastrointestinal challenges faced by children with KAT6A and KAT6B. This population experiences a concerning increase in mortality due to poor GI motility and perforation. Tragically, we recently lost another child to GI perforation, which has heightened anxiety and urgency within the community.
We are keen to better understand the factors that contribute to susceptibility to poor motility, bowel obstruction, and the risk of perforation in children with KAT6A and KAT6B. Equally important is identifying effective treatment strategies to address these serious issues.
If you are interested in collaborating on this important challenge, please email the KAT6 Foundation at support@kat6a.org.
We’re excited to announce that we’ve been selected as a 2024 #RAREis Global Advocate Grant recipient by the #RAREis program from Amgen! In total Amgen awarded 75 one-time $5,000 grants to global rare disease advocacy organizations to support programs and disease education initiatives.
We’re motivated to continue making a positive impact for the rare disease community by expanding our efforts in KAT6 education and advocacy as we work to address the needs of all those impacted.
#RAREisTM began as a social media campaign launched by Horizon Therapeutics, now Amgen, in 2017 to elevate the voices, faces and experiences of the rare disease community. It has since grown into a global program that provides individuals and families around the world with access to resources that connect, inform and educate as they navigate their daily lives. The hashtag (#), #RAREis, remains as a way to follow the conversation on social media and remains in the name and logo to represent the broader program and community. As part of their mission, they strive to improve the experience of living with a rare disease by providing support to many organizations that offer crucial programs and services for people living with rare diseases.
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