Joint-Division Head, Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, AUSTRALIA
Dr. Voss established her laboratory at the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne in 2000 after post-doctoral positions at Cornell University, USA and at the Max-Planck-Institute for Biophysical Chemistry, Germany. From 2012-2018 Dr. Voss was Head of the Development and Cancer Division, and since 2019 she is Joint-Head of the Epigenetics and Development Division at WEHI. In 2015, she received the Elizabeth Blackburn Fellowship (Biomedical Science) and in 2021 the Clunies Ross Award with Tim Thomas and Jonathan Baell for the commercialization of MYST histone acetyltransferase inhibitors for the treatment of cancer.
Dr. Anne Voss studies the role of KAT6A and KAT6B in neuronal differentiation and function through behavioral animal models. Her team is assessing the KAT6A and KAT6B gene role in behavior, learning and memory. Dr. Voss’ lab generates patient-specific variant in cells to determine if variant causes a loss or gain of function variant, followed by modeling in mice to assess pathology, cellular defects, molecular chromatin/biochemical and behavioral dysfunctions. Findings from these objectives will assist in assessing the efficacy of HDAC inhibitors and acetyl-donors to improve biochemical and behavioral function that is currently being studied in Dr. Voss’ lab using mice models.
Dr. Voss is one of the few experts in the world who studies vocalizations in mice models to support speech and language research in KAT6A and KAT6B gene variations. By investigating ultrasonic vocalization in mice under two situations, pups calling out to their mother when separated and male singing to a female during mating behavior, it is possible to study the neurobiology of speech and language in rare genetic variations using animal models. In 2024, Dr. Voss’ research, Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice, was published in the Journal of Clinical Investigation.
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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UCLA CHAMPION Study (Chromatinopathies and Autism: Motor Phenotyping and Indicators of Neurodevelopment)
This study is being conducted both in-person at University of California, Los Angeles and virtually. Eligible children anywhere in the United States can be enrolled – study materials would be mailed and assessments are administered via videoconferencing if travel to Los Angeles is not feasible.
The CHAMPION Study is being led by Dr. Rujuta B. Wilson, MD, a neurodevelopmental pediatric neurologist and researcher at UCLA who studies neurodevelopmental conditions. This study is enrolling children 1 to 5 years old with KAT6 Syndromes or other Chromatin Modifying Disorders (also known as Chromatinopathies) AND children with autism without a known genetic condition.
As a part of the study, behavioral, cognitive, and autism symptom assessments of your child will be administered. In addition, your child would be asked to wear small sensors (movement trackers) on his/her wrists and ankles during the day at home. Lastly, a parent interview is conducted to gain further insight into your child’s medical history, behavior, and development.
Your child will receive up to $100.00 for participation and you will be provided verbal and written feedback about your child’s development.
If you are interested in having your child participate in this study or would like to seek additional information, you can contact the study coordinators via email or phone: RQLy@mednet.ucla.edu or SereenWong@mednet.ucla.edu / 310-206-1045.
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Our 7th annual walk event will take place in September. You can choose to participate virtually or attend an in-person walk at select cities. We invite families and friends of individuals diagnosed with KAT6 syndromes to raise awareness during this time. The KATwalk fundraiser is a vehicle that enables everyone to participate at the activity and/or donation level they choose.
KATWALK 2024 is extended one week! Virtual and in-person walks will end October 6th!
*General admission tickets will NOT include a t-shirt this year.
Stay tuned for an updated list of cities and dates. Please reach out to Katie Bator at katiekat6a@gmail.com if you have any questions about setting up a virtual walk team or would like to add your walk to the registration page.
ORDER A KATWALK T-SHIRT
This year tickets to in-person walks will NOT include a t-shirt. In the spirit of being eco-friendly, we encourage people to wear a shirt from prior KATwalk events.
If you do not own a KATwalk shirt, you can order shirts in youth and adult sizes through our Custom Ink fundraiser from July 1st – August 12th.
We have KATwalk tees and onesies available in our KAT6 Foundation shop that can be directly shipped to your home. SHOP HERE
PARTICIPATE VIRTUALLY
If you can’t join us in person, we encourage you to register for a VIRTUAL walk! (free)
Choose any date between September 1st and September 30th to walk/run/ride. You can join us from wherever you are by organizing a casual KATwalk for a small group or by participating on your own. You can extend the message and broaden support by joining or creating a fundraising team and sharing this page with your friends and family.
Be sure to share your photos with us on social.
#KATWALK2024
BECOME A FUNDRAISER
We encourage you to create a fundraising page. You can join an existing team or start your own. Invite team members to expand your network to help you reach your fundraising goal. You will need to select the register button to become a fundraiser and follow the steps in your KATwalk 2024 confirmation email.
Please contact Emile Najm if your company is able to sponsor a local KATwalk event. Official sponsors will be included in our communications and printed on event day banners. Email Emile at kat6a@yahoo.com.
We are proud media partners of RARE fest24 by Cambridge Rare Disease Network, a vibrant, vital public festival putting rare diseases and those affected in the spotlight. Festival-goers will enjoy a feast of science, tech, arts and stories from rare disease experts and the community.
Book your FREE tickets and join us on November 23rd to make a difference.
Join us for the 6th International KAT6 Foundation Conference!
Uniting Minds for KAT6: Connect, Collaborate, Cure
May 31, 2025
Doubletree Baltimore BWI Airport, 890 Elkridge Landing Road, Linthicum Heights, MD, USA
The KAT6 Foundation’s annual conference aims to support individuals and their families living with KAT6A and KAT6B syndromes. With the goal to solidify KAT6A and KAT6B research internationally, this conference will also enable an open dialogue between families, clinicians and researchers.
Hotel Rooms at the Doubletree Baltimore BWI are blocked off for our group until April 30th. This information will be sent to you after registering for the conference. Free parking and airport shuttle courtesy of Doubletree Baltimore BWI Airport hotel.
Participate in Blood Sample Collection for KAT6A/KAT6B Patient Registry. Sign up and learn more
Participate in Blood Sample Collection for Dr. Arboleda’s research: Genomic Evaluation of Rare Diseases. Sign up and learn more
Sign up for Dr. Sarah Donoghue (MCRI) research (Blood sample collection). Email sarah.donoghue@ mcri.edu.au.
*You only need to provide a blood sample once, but you will need to sign up separately to consent to how the data will be stored and shared.
CONSULTATION
Dr. Richard I. Kelley is dedicating the full conference day on May 31st to meet with families in small, personalized sessions. This is your chance to ask questions, get insights, and receive one-on-one guidance from a true expert in the field. Spots are limited.
Working through ZebraKinder — our KAT6 counterpart in Austria, filmmaker Niko Mylonas has released the production, “Genetic Defekt.” Coordinated by executive producer (USA) Emile Najm for the KAT6 Foundation and retaining its German title, the production is available in English narrated by our own Katie Bator as well as in its original German.
While the film does touch on the technical aspects of KAT6, it is, in essence, an opportunity to get acquainted with families at home and abroad who live with KAT6A and KAT6B. We of course want to educate ourselves on the ways in which the genetic defect expresses itself in its several variations, but the film centers around the daily lives of those affected.
We see in the film the spectrum from subtle, almost unnoticeable effect to severe impairment, depending on the type of gene anomaly — truncation, missense, deletion, and other variants. We meet Ella in Innsbruck and her advocate-aunt, Monika Rammal. We visit Gianna in Michigan, Samantha in Germany, Will in New York, Warren, Bay, Max, Hadley, and many more. We hear from some of the scientists and parent-advocates we’re familiar with including Dr. Jacqueline Harris, Dr. Angie Serrano, Aimee and Jeff Reitzen, Susan and George Hartung. We visit with the Najm family, who, on behalf of Peter, had the inspiration in 2017 to organize parents in starting a foundation for KAT6 support and research.
In addition to a glimpse into the everyday trials and sweet triumphs of those who live with KAT6, the film lets us spend a poignant few minutes with the parents of Helin, a girl in Germany who fell ill and, although brought to a hospital, did not survive. Her parents share the message to be learned from that tragedy.
While the film points out that the disease is yet rare, it is not new. Nor perhaps is it as rare as was previously thought. And that could be the film’s lasting contribution. Once you’ve seen it, show it to others, speak of it, send it, share it widely. Make it the centerpiece of a gathering or fund-raiser. And make clear that, whenever there is a question of a genetic irregularity in a child, testing is available. Our children deserve the care we can give, and we, as parents and caregivers, deserve the best information.
At 48 minutes in length, “Genetic Defekt” is a tool we have long needed to promote awareness of the adversity that has brought us together.
Filmmakers and film lovers are cordially invited to the 12th Nyack International Film Festival 2024 Opening Party Monday, April 1st 4:00pm – 5:45pm at the Fabulous Hotel Nyack! We will celebrate the upcoming week of film presentation with filmmakers, press and festival introductions, immediately followed by our first night of selected films beginning 6:00pm that Monday evening. NIFF 2024 runs Monday, April 1st through Sunday, April 7th at the Fabulous Hotel Nyack!
Hotel Nyack, is the perfect setting for a superb film festival experience! Come early, the hotel features the restaurant FARM, 3 bars, with 1 outside by the pool. Contact Hotel Nyack for overnight accommodations.
DIVERSITY STATEMENT
At Nyack International Film Festival, we acknowledge the institutional oppression and trauma that marginalized communities face. As allies and change-makers, we actively seek to advocate for organizations that support communities of color, indigenous communities, communities with disabilities, LGBTQ+ communities, communities of varying religious beliefs and those with intersectional identities. Our diversity is our strength; built on a foundation of kindness, patience and understanding.
In 2022 the KAT6 Foundation and collaborators established the first patient-derived induced Pluripotent Stem Cells (iPSC) bank for KAT6A and KAT6B variants. The foundation’s Science Advisor, Dr. Angie Serrano, stores and maintains biospecimens, such as, skin and blood samples of KAT6A and KAT6B patients at Boston University. Join us to learn about recent progress in the KAT6 Pluripotent Stem Cell Bank and on how studying blood samples with advance spectral flow cytometry methods helps understand the biology of KAT6 Disorders.
Agenda:
Part 1 | KAT6 Biobank status update
Part 2 | New Study. The colors that tell a story: How studying blood cells helps us understand KAT6 disorders.
About the Presenter:
Dr. Serrano is an Assistant Professor of Medicine at the Center for Regenerative Medicine (CReM), Boston University. Dr. Serrano’s research program aims to develop pioneering work towards understanding shared cellular and molecular mechanisms of neurodevelopment and vasculogenesis in the context of rare diseases with an epigenetic basis. To reach this goal, Dr. Serrano combines her expertise in rare disease modeling in zebrafish together with cardiovascular and neurobiology techniques and human iPSC-derived brain organoids and endothelial cells. Dr. Serrano’s approach to rare disease research is based on the proactive establishment of interdisciplinary collaborations with institutional and external field experts in vascular biology, neurobiology, pediatrics, regenerative and precision medicine together with patient advocacy groups.
Join Us on Zoom:
Learn more about the research opportunities that the KAT6 biobank could offer our rare community. Join the discussion and ask your questions to Dr. Serrano.
You can obtain the Zoom link in the KAT6 Support Group on Facebook, or email support@kat6a.org.
KAT6 families visit CReM at Boston University on March 31, 2023
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Our KAT6 community is made up of many dedicated parents who advocate tirelessly for their loved ones. Recently, Kerrie, mother of a child diagnosed with KAT6A syndrome, was able to make a positive impact in her UK neighborhood for children with disabilities. Due to Kerrie’s perseverance, a playground in her local community is now more inclusive.
Kerrie says:
“We have a local park we take Woody to quite often. As he grew, we realized there were less and less facilities for him to use. As I visited more parks around Manchester, I noticed there wasn’t really any accessible playground equipment for children with disabilities.
This really upset me as a mother. Woody loves the swing and I strongly feel that play areas should be inclusive for all children.
I contacted the local council and didn’t get anywhere for a long time, but I wasn’t going to let it rest and eventually I met with a member of staff. We met at the park that we often visit with Woody and I asked her to have a look around. She agreed the equipment did not provide ample opportunities for children with disabilities and it wasn’t good enough.
She assured me she would do something about it and that other parks in the area would also be assessed. It took three years but we now have a swing for Woody and other children to use. I will continue working alongside the local council to ensure they follow through in their mission to provide more inclusive playground equipment for our children.”
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Black Friday and Cyber Monday are great opportunities to find gifts for your family and friends. Giving Tuesday is an opportunity to give gifts to the rest of the world.
Please join the #GivingTuesday movement by supporting the KAT6 Foundation.
Here are some ways you can help make a difference this Giving Tuesday:
1. Make a donation to The KAT6 Foundation, Inc.
2. Like and share our fundraising campaign on social media.
3. Share our mission with those you know who want to help individuals living with disabilities or a rare disease.
