KAT6 Foundation

A CALL FOR KAT6 FOUNDATION GRANT APPLICATIONS !! https://lnkd.in/eY5HJ4Dj KAT6A and KAT6B genetic variations are chromatin disorders that disrupt histone acetylation, altering gene expression crucial for development. Mutations in these genes lead to developmental delays, intellectual disabilities, and characteristic physical features, underscoring their role in growth and neurodevelopment. The KAT6 Foundation aims to support individuals and their families who are living with KAT6A and KAT6B syndromes around the world. The KAT6 Foundation proudly funds and supports international research by connecting families to research studies. 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 [email protected]. The KAT6 Foundation welcomes applications for research that focus on any aspect of KAT6A or KAT6B syndromes. 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

A CALL FOR KAT6 FOUNDATION GRANT APPLICATIONS !! https://lnkd.in/eY5HJ4Dj KAT6A and KAT6B genetic variations are chromatin disorders that disrupt histone acetylation, altering gene expression crucial for development. Mutations in these genes lead to developmental delays, intellectual disabilities, and characteristic physical features, underscoring their role in growth and neurodevelopment. The KAT6 Foundation aims to support individuals and their families who are living with KAT6A and KAT6B syndromes around the world. The KAT6 Foundation proudly funds and supports international research by connecting families to research studies. 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 [email protected]. The KAT6 Foundation welcomes applications for research that focus on any aspect of KAT6A or KAT6B syndromes. 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

ATTENTION GASTROINTESTINAL (GI) RESEARCHERS!!!! The KAT6 Foundation is addressing a critical research priority raised by families—gastrointestinal challenges faced by children with KAT6A. 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. 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 on:? [email protected]. Thank you!!!

National Organization for Rare Disorders

For those in the UK: https://lnkd.in/endZtPB7

Call to join Research into speech & language skills in individuals with KAT6B variants: An international study, based in Australia but using online format to collect research data is looking for participants in this research project. The Translational Centre of Research Excellence for Speech Disorders examines speech and language in individuals with rare genetic conditions. They are looking for individuals: ? Confirmed to have a KAT6B variant by genetic test ? Aged 6 months - adulthood ? Who are verbal or non-verbal What is involved? ? Emailing to express interest at [email protected] or [email protected] Translational Centre for Speech Disorders Murdoch Children’s Research Institute 50 Flemington Road, Parkville VIC 3052, Australia

KAT6 FOUNDATION RECEIVES #RAREis GLOBAL ADVOCATE GRANT We're proud and excited to announce that we've been selected as a 2024 #RAREis Global Advocate Grant recipient by the #RAREis program from Amgen! The #RAREis Global Advocate Grant was established in 2022 to support the rare disease community by providing financial assistance to global advocacy groups working to advance, educate and address the needs of the community. 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. Learn more about the #RAREisGrant here:? https://lnkd.in/dtDqgsGa

The KAT6 Foundation is proud to sponsor KATwalk 2024 !! SEPTEMBER 1st - 30th? 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 aross the USA. 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.? HOW CAN I SUPPORT THE KATWALK? IN-PERSON walks will take place in the following cities on the specific dates/times listed below: SEPTEMBER 7th: Boiling Springs, PA, USA?(Team Luke) Divernon, IL, USA (Coleman Warriors) Maryville, TN, USA?(Team Landry) Pompton Lakes, NJ, USA (Jack's KAT Pack) Spring Lake, MI, USA (Team Benjamin) SEPTEMBER 14th: Wantagh, NY, USA?(The Tom Squad?and?Will's Warriors) SEPTEMBER 15th: Balneário Camboriú or Itajaí, BRAZIL?(KAT6 Walk Brazil) SEPTEMBER 21st: East Greenwich, RI, USA?(Team Hadley?or?Walk for Jack) Rochester, NY, USA?(Go Yaya! Go Yaya!) Sa Ràpita, Mallorca, SPAIN?(Camina amb na Victòria) Santa Rosa or Ukiah, CA, USA?(Team JD) Snohomish, WA, USA?(Team Braeden) West Haverstraw, NY, USA?(Team Peter) SEPTEMBER 28th: Birmingham, AL, USA?(Charlotte's Stampede) Centennial, CO, USA?(Zara's Zoomers) Chattanooga, TN, USA (KAT Walk with Trace) SEPTEMBER 29th: Des Peres, MO, USA?(Team Marin & Emma) Wylie, TX, USA?(Brave Like Gage) OCTOBER 5th: Bluffton, IN, USA?(Valor's Avengers) TBD: Chevy Chase, MD, USA?(Chloe's KAT Walkers) 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. We're fundraising to make a difference in the lives of individuals diagnosed with KAT6 syndromes! You can help fundraise for KATwalk 2024 by simply donating today: https://lnkd.in/efnGEUVv Be sure to share your photos with us on social media. #KATWALK2024

Walk, Fish, Sing and Dance with Peter! Hope you can all join us! The event includes live music played by 3 local bands, food, fishing and a raffle! Location: Haverstraw Bay Park, NY Date: September 21st, 2024 SCHEDULE OF EVENTS 12:15PM-12:25PM: National Anthem, Welcome Speech by Natacha Esber, KAT6 Foundation, Science Director and 1 song in honor of the 9/11 victims. 12:25PM-12:55PM: Fun walk around the Park. 13:00PM-13:30PM: Live music by Peter and MaryAnne Partridge’s 13:30PM-14:30PM: Singing and Dancing with Peter, Paul, John and Mary’s band 14:30PM-15:15PM: Fishing lesson by Paul Najm 15:15PM-15:45PM: Live music by the Book of James Band. A playground is available on site. RAFFLE Every registered walker will receive 1 free raffle ticket and additional raffle tickets will be available for purchase. FOOD Lunch, soft drinks and desert will be provided for free. Click on the link for details and for registration: https://lnkd.in/e7W-HX-R