Online Printable Resources
Handbook Translations: Arabic French Hindi Italian Portuguese Spanish
KAT6A Resources
KAT6A Gene: Lysine Acetyltransferase 6A
KAT6A Syndrome Handbook by Unique
KAT6A Syndrome – Summary in Dutch and English
Fact Sheet: Speech, Language and Communication in KAT6A Syndrome – September 2023
Of Special Concern: Bowel Obstructions in the KAT6 Population – November 2022
KAT6B Resources
KAT6B – Related Disorders Report by NORD
KAT6B Gene: Lysine Acetyltransferase 6B
KAT6B Gene Related Symptoms and Diseases
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Of Special Concern: Bowel Obstructions in the KAT6 Population – November 2022
KAT6 Foundation Resources
Annual Appeal Fundraising Toolkit
KAT6 Foundation Fundraising Materials and Logos
KAT6 Foundation Brochure- Revised October 2023
KAT6 Advocacy Committee Presentation – October 2022
KAT6A & KAT6B Research in Canada
KAT6A & KAT6B Virtual Symposium: GI Health and Beyond- September 2022
KAT6A & KAT6B Virtual Symposium Report- March 2022
Recorded Webinars
2024
5th International KAT6A & KAT6B Conference Presentations- June 8, 2024
Advocacy Update: Important Legislation, Government Services, Long Term Planning, Siblings
Advocacy Workhop
Horses, Homeschooling, and the Human Genome: Meet Ireland and Beth Harris
KAT6 Foundation Fundraising by Karen Ginsburg and Katie Bator
The KAT6A/KAT6B Patient Registry by Bhawika Sharma Lamichhane, PhD
Overlapping Cognitive and Behavioral Features Across KAT6A and KAT6B Disorders
Precision Medicine for KAT6A and KAT6B Syndromes by Prof José Antonio Sánchez Alcázar
Serrano Lab: Supporting Patient Partnered Research to Investigate the Epigenetic Roles of KAT6A and KAT6B
Treatment of Metabolic Abnormalities in KAT6A & KAT6B Syndromes by Richard I Kelley, MD, Phd
Using Fruit Flies to Assess KAT6AB Variants, Model Symptomology, and Screen Drugs
Welcome Note by Dr. Natacha Esber
5th International KAT6A & KAT6B Conference Summary – June 2024
2023
Early Treatment Pathways for Children with Neurodevelopment Disorders by Dr David Amor, Alice Lockwood – NAPA OT, Mara Kenyon – NAPA OT and Tanya Tripathi
Supporting patient -focused research through KAT6 IPSC Bank. Center for Regenerative (CReM) – Boston University- Research in Progress by Dr. Angie Serrano
The Impact of Prompt on Verbal Language Development by Amy Bergeson
4th International KAT6A & KAT6B Conference Presentations- April 1, 2023
An Overview of Autism Clinical Findings and Research and how they apply to KAT6A & KAT6B
Fundraising For The KAT6 Foundation by Karen Ginsburg and Marjorie Weintraub
How The KAT6 Foundation Helps Newly Diagnosed Families by Lindsey and Colin Blanch
KAT6A and KAT6B A Scoping Review by Dr Tanya Tripathi
KAT6A and KAT6B Registry by Dr Bhawika Sharma L
KAT-TALK With Lexi Elkins and Karen Ginsburg
Neurodevelopmental Research in KAT6A and KAT6B Syndrome by Rowena Ng, PhD, Jacqueline Harris, MS, MD
Origin of Genetic Diseases The Case of Syndromic Intellectual Disability
Serrano Lab Tour at Center for Regenerative Medicine- Boston University
Servicing Students with Unique Disabilities A School District’s Perspective
Supporting Patient-Focused Research Through a KAT6A and KAT6B iPSC Bank by Dr. Saylor Williams
Tools For Effective Advocacy and Organizing by Susan Hartung and Amy Young
Treatment of Metabolic Abnormalities in KAT6A and KAT6B Syndromes
4th International KAT6A & KAT6B Conference Report – April 2023
2022
Biochemical Basis of Intestinal Dysmotility in KAT6A by Richard I. Kelley, MD, PhD
Gut Microbial Metabolites in Human and Animal Behavior by Dr. Sarkis Mazmanian
DNA Methylation Episignatures in the Diagnosis of Mendelian Neurodevelopmental Disorders by Dr. Mike
Understanding Rare Diseases, KAT6A, KAT6B, and the Patient Registry by Dr Bhawika Lamichhane, PhD
3rd International KAT6A & KAT6B Conference Presentations- June 4, 2022
Opening Remarks from the KAT6 Foundation by Jordan Muller, Chairperson
Opening Remarks by Dr. Natacha Esber, Science and Research Director
KAT6A/KAT6B Patient Registry by Bhawika Sharma Lamichhane, PhD
KAT6A/KAT6B Research and Treatment by Dr. Richard Kelley
Neurological and Neurodevelopmental Manifestations of KAT6A Syndrome by Dr. Jacqueline Harris
Overview of KAT6A Syndrome: Clinical, Genetic and Epigenetic Perspectives by Dr. Jill A Fahrner
A Review on KAT6B Disorders by Dr. Gabrielle Lemire
Personalized Medicine in KAT6A Syndrome by Manuel Munuera Cabeza
Closing Remarks by Emile Najm, CEO of KAT6 Foundation
3rd International KAT6A & KAT6B Conference Report- June 2022
2021
ABA in a Nutshell by Leigh Broughan, MA, BCBA
Advocating for Answers, The Battle Against Rare Diseases by the KAT6A Foundation
Drug Development: The Potential for Future Therapies for KAT6 Disorders by Typhaine Lejeune
Intensive Therapy Changed Jack’s Life by Amy Young
KAT6A Syndrome Sleep Behavior and Adaptive Function by Clay Smith, MD and Jacqueline Harris, MD
Late Night Talk with Dr Richard Kelley
Navigating Special Education in US Public Schools by Sue Carpenter
Novel Variants in KAT6B Spectrum of Disorders by Valerie A. Arboleda MD, PhD and Megan Yabumoto, BS
Teaching Through Music, Visuals and Montessori Principles by María Pilar Jaén Mercadal
2020
A Review on KAT6B Disorders by Gabrielle Lemire, MD, FRCPC Medical Genetics
KAT6A Research and Treatment An Update by Richard I Kelley, MD, PhD
KAT6A Syndrome: Pathophysiology, Diagnosis, and Treatment by Dr. Natacha Esber, MD
Lysine acetyltransferases (KATs) in developmental disorders presented by Xiang-Jiao Yang, PhD
Refining the Phenotype of Individuals with KAT6A Syndrome: Sleep Behavior and Adaptive Function by Clay Smith, MD and Jacqueline Harris, MD
When the School Bus Stops Coming by Susan Hartung, M.A. Ed in Special Education
International Contacts
Asociación KAT6A y amigos (Spain)
KAT6A Foundation: KAT6A and KAT6B Research and Raising Awareness Group
