KAT6 Foundation

EXCITING NEW RESEARCH SUGGESTS KAT6B OVEREXPRESSION CAN REPLACE LOST FUNCTIONS OF KAT6A PREVENTING ABNORMAL DEVELOPMENT. https://lnkd.in/eecs_VTC KAT6A and KAT6B have identical protein domain structures and high sequence similarity in all functional domains; this study reveals how KAT6B can replace lost functions of KAT6A, preventing embryonic lethality and abnormal development providing promising insights for future genetic studies and therapies. KAT6A and KAT6B are part of the histone acetyltransferase family, enzymes fundamental to the regulation of gene expression through the modification of chromatin structure. Mutations or deletions of these genes lead to severe consequences, including intellectual disabilities and developmental anomalies. This study demonstrated that, compensating for the loss of KAT6A by generating transgenic mice overexpressing for KAT6B at 4-fold above endogenous levels in Kat6a–/– mice, rescues the previously described developmental defects resulting from homozygous loss of KAT6A. Remarkably, Kat6a–/–Tg(Kat6b) mice are born, show normal development to adulthood and normal blood cell development in adulthood. In addition to rescuing the anatomical defects resulting from loss of KAT6A, KAT6B overexpression reverted ~90% of the changes in gene expression caused by loss of KAT6A This preliminary data suggest that the target gene specificity of KAT6A can be substituted by the related paralogue KAT6B despite differences in amino acid sequence, if KAT6B is expressed at sufficiently high levels. Fundamentally this data demonstrates the potential for one gene to compensate for another and it is hoped further studies can guide effective therapeutic strategies to manage KAT6A and KAT6B-related disorders and their prevention.

EXCITING NEW RESEARCH SUGGESTS KAT6B OVEREXPRESSION CAN REPLACE LOST FUNCTIONS OF KAT6A PREVENTING ABNORMAL DEVELOPMENT. https://lnkd.in/eecs_VTC KAT6A and KAT6B have identical protein domain structures and high sequence similarity in all functional domains; this study reveals how KAT6B can replace lost functions of KAT6A, preventing embryonic lethality and abnormal development providing promising insights for future genetic studies and therapies. KAT6A and KAT6B are part of the histone acetyltransferase family, enzymes fundamental to the regulation of gene expression through the modification of chromatin structure. Mutations or deletions of these genes lead to severe consequences, including intellectual disabilities and developmental anomalies. This study demonstrated that, compensating for the loss of KAT6A by generating transgenic mice overexpressing for KAT6B at 4-fold above endogenous levels in Kat6a–/– mice, rescues the previously described developmental defects resulting from homozygous loss of KAT6A. Remarkably, Kat6a–/–Tg(Kat6b) mice are born, show normal development to adulthood and normal blood cell development in adulthood. In addition to rescuing the anatomical defects resulting from loss of KAT6A, KAT6B overexpression reverted ~90% of the changes in gene expression caused by loss of KAT6A This preliminary data suggest that the target gene specificity of KAT6A can be substituted by the related paralogue KAT6B despite differences in amino acid sequence, if KAT6B is expressed at sufficiently high levels. Fundamentally this data demonstrates the potential for one gene to compensate for another and it is hoped further studies can guide effective therapeutic strategies to manage KAT6A and KAT6B-related disorders and their prevention.

Show your support by donating $6 for our 600+ KAT6 Warriors! Donate here: https://lnkd.in/gueABbgY #rarediseaseday2025 #rarediseaseawareness #kat6a #kat6b #ultrarare #SupportRare

Thanks to the Genetic Alliance UK and Members of Parliament Ashley Dalton and Peter Dowd for hosting members of the rare disease community at the Houses of Parliament yesterday in recognition of Rare Disease Day today. It was wonderful to meet up with old and new friends in the community and hear of the UK governments commitment to the community and progress with the UK Rare Disease Framework. Wear your stripes with pride this February 28th Rare Disease Day and take a moment to find out more about the 3.5 million people, their families and carers in the UK living with a rare disease. FOP Friends KAT6 Foundation

Thanks to the Genetic Alliance UK and Members of Parliament Ashley Dalton and Peter Dowd for hosting members of the rare disease community at the Houses of Parliament yesterday in recognition of Rare Disease Day today. It was wonderful to meet up with old and new friends in the community and hear of the UK governments commitment to the community and progress with the Rare Disease Strategy. Wear your stripes with pride this February 28th Rare Disease Day !

UK FAMILIES: Are you interested in taking part in a new sibling sleep study? The University of Birmingham is conducting an at-home sleep assessment for children with an intellectual disability and their same-household siblings. Children aged 4-15 with an intellectual disability and health needs, along with their siblings, are invited to participate. Each child will wear a movement tracker on their wrist or ankle for 10 days to monitor sleep, while caregivers keep a sleep diary. This study aims to better understand the link between poor sleep, chronic ill health, and its impact on sibling sleep and wellbeing. As a thank you, each participating family will receive reimbursement and an individualised feedback report detailing findings for each child. To take part, simply scan the QR code or click this link to answer four quick screening questions: https://lnkd.in/efMSAZxq. https://lnkd.in/efMSAZxq

UK FAMILIES: Are you interested in taking part in a new sibling sleep study? The University of Birmingham is conducting an at-home sleep assessment for children with an intellectual disability and their same-household siblings. Children aged 4-15 with an intellectual disability and health needs, along with their siblings, are invited to participate. Each child will wear a movement tracker on their wrist or ankle for 10 days to monitor sleep, while caregivers keep a sleep diary. This study aims to better understand the link between poor sleep, chronic ill health, and its impact on sibling sleep and wellbeing. As a thank you, each participating family will receive reimbursement and an individualised feedback report detailing findings for each child. To take part, simply scan the QR code or click this link to answer four quick screening questions: https://lnkd.in/efMSAZxq. https://lnkd.in/efMSAZxq

Rare Disease Day event taking place in the UK ! https://lnkd.in/eACxEdDA

This Rare Disease Day, Let’s Amplify the Voices of Those Affected by Ultra-Rare Diseases Rare diseases often go unnoticed, but for those living with ultra-rare diseases, the challenges are even more profound. These conditions impact a small number of individuals worldwide, making it crucial to raise awareness, secure funding, and support research and clinical trials. On Rare Disease Day, let's come together to help shine a light on these ultra-rare conditions. With increased awareness, we can drive the funding needed for groundbreaking research and clinical trials that can change lives. Every step toward awareness is a step toward finding treatments and improving outcomes for those affected. Join us in the fight for rare and ultra-rare diseases. Together, we can make a difference. Please read on to learn more about: - What makes a rare disease ultra-rare - Getting a diagnosis - What are family and caregiver challenges - Impact on treatment and research - Cost of treatment for rare diseases - How do foundations like ours get funding - Supports networks and advocacy #RareDiseaseDay #UltraRareDisease #RareDiseaseAwareness #Research #ClinicalTrials #SupportRareDiseases #MakeADifference #FundResearch

This Friday: Join Us in Raising Awareness for Rare Disease! This Rare Disease Day, February 28, 2025, show your support by donating $6 for our 600+ KAT6 warriors and help make a meaningful impact. Every donation counts! #RareDiseaseDay #KAT6Foundation #SupportRareDiseases #Donate #RareDiseaseAwareness #MakeADifference