KAT6A syndrome

KAT6A syndrome is a rare genetic disorder caused by mutations in the KAT6A gene, affecting individuals since their infancy and leading to developmental delays, intellectual disabilities, and metabolic dysregulation in affected individuals. 

Join Prof. Laura Cendron's team in decoding KAT6A syndrome. Your support isn't just a donation; it's a key to progress and a beacon of hope for rare disease breakthroughs. Together, let's turn the page on discovery and create a brighter future.

Our mission

We want to unravel disease mechanisms and test biomolecules that could help counteract the deleterious effects of the mutated gene, fighting illness.
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Make a difference

Join us in advancing KAT6A syndrome research by making a meaningful contribution. Your generous donations will fund researchers fellowships and equipment acquisition to support groundbreaking gene mutation studies. Every donation is eligible for tax deductions. Learn more.

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Who we  are

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Our dynamic research team, led by Professor Laura Cendron, boasts a wealth of experience in the realms of biochemistry, cell biology, protein engineering, and high-resolution structural techniques. As the Principal Investigator, Prof. Cendron has dedicated her career to unraveling the intricacies of molecular interactions and dynamics across various scientific domains, from microbiology and catalysis to immunology and therapeutic discovery.

Prof. Laura Cendron (Biology Dept)
Prof. Monica Dettin (Industrial Engineering Dept)
Prof. Roberto Vettor (Medicine Dept / Hospital)
Prof. Paola Brun (Molecular Medicine Dept)
Dr. Annj Zamuner (Industral Engineering Dept)
Dr. Antonella Pasquato (Industrial Engineering Dept) 

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We aspire to unravel the mysteries of KAT6A syndrome, a rare and debilitating condition affecting individuals with intellectual disabilities. Our project, "Targeting KAT6A Epigenetic Network to Re-establish Dysregulated Circuits," is distinctive in its interdisciplinary approach. By combining the expertise of chemists, biochemists, biologists, and medical doctors, we aim to bridge the gap between understanding the molecular basis of the disease and developing targeted therapies.
What sets us apart is our commitment to not only map the cellular alterations in KAT6A syndrome but also to counterbalance these effects with innovative drug interventions. Our focus on the epigenetic network of KAT6A, a key player in neurodevelopment, provides a unique opportunity to explore uncharted territories and pave the way for groundbreaking therapeutic strategies. This project represents a convergence of cutting-edge science and a compassionate mission to improve the lives of those affected by this rare syndrome.

We are inviting you to become more than a supporter: you're a vital partner in our groundbreaking research. Your contributions fund a Ph.D. scholarship, as well as the essential essential materials and dedicated lab equipment for biomedical breakthroughs lab: the crowdfunding has the purpose to further support travel and experimental costs to have access to advanced technologies in European facilities and international collaborations. Join us, and together we'll reshape the future of rare disease research, one pledge at a time.

Supporters of our project gain the satisfaction of contributing to cutting-edge scientific research aimed at addressing a rare and challenging medical condition. They become integral members of our research community, enabling breakthroughs in understanding the molecular basis of KAT6A syndrome and the development of targeted therapies. Additionally, contributors receive updates on project progress and become part of a network dedicated to advancing knowledge and treatment in the field.

Our future objectives include identifying and characterizing novel modulators of KAT6A functions through rationally designed and blind high-throughput screening approaches. We aim to apply the most promising compounds to an extensive validation, also using a cohort of KAT6A syndrome patients' cell lines, further contributing significantly to a better understanding of the biochemistry of KAT6A, especially in the context of this Syndrome. All our efforts are dedicated to the ultimate goal of discovering innovative strategies to improve the conditions for children affected by KAT6A syndrome.

 

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