Family Resources

Online Printable Resources

Handbook Translations: Arabic French Hindi Italian Portuguese Spanish

KAT6 Foundation Fundraising Materials

KAT6A Syndrome Report by NORD

KAT6B – Related Disorders Report by NORD

KAT6 Foundation Brochure- Revised October 2023

Fact Sheet: Speech, Language and Communication in KAT6A Syndrome – September 2023

Of Special Concern: Bowel Obstructions in the KAT6 Population – November 2022

KAT6 Advocacy Committee Presentation – October 2022

KAT6A & KAT6B Virtual Symposium: GI Health and Beyond- September 2022

KAT6A & KAT6B Virtual Symposium Report- March 2022

Genitopatellar Syndrome

KAT6A Fact Sheet

KAT6A Gene: Lysine Acetyltransferase 6A

KAT6A Syndrome: Deficiency of a Histone Acetyltransferase as the Cause of Mild to Severe Mitochondrial Disease by Richard l Kelley, MD, PhD

KAT6A Syndrome Handbook by Unique

KAT6A Syndrome – Summary in Dutch and English

KAT6B Gene: Lysine Acetyltransferase 6B

KAT6B Gene Related Symptoms and Diseases

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Rare Neurological Disease Special Report

Transition to Adulthood Checklist

Typing to Communicate AAC Resource List

Empowered Grant Applications

Recorded Webinars

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

Best Practices for Effective Education Plans by Sue Carpenter, Susan Hartung, Beth Woodbury and Amy Young

The Impact of Prompt on Verbal Language Development by Amy Bergeson

Luteolin Promotes KAT6A Gene Expression by Dr Monica Dettin
Swimming and Beyond with KAT6A by Christy Baca

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

Intestinal Organoids from Human-Induced Pluripotent Stem Cells for Disease Modeling: The Future is Closer Than We Think by Dr. Gustavo Mostoslavsky, PhD

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

Diagnostic Episignatures in Patients with Neurodevelopmental Disorders, Applications to KAT6A and KAT6B by Bekim Sadikovic, PhD

KAT6A/KAT6B Research and Treatment by Dr. Richard Kelley

Neurological and Neurodevelopmental Manifestations of KAT6A Syndrome by Dr. Jacqueline Harris

Neuropsychological Assessments in KAT6A Syndrome and Other Genetic Neurodevelopmental Disorders by Rowena Ng, PhD

Overview of KAT6A Syndrome: Clinical, Genetic and Epigenetic Perspectives by Dr. Jill A Fahrner
A Review on KAT6B Disorders by Dr. Gabrielle Lemire

The Importance of Creating a Patient Derived Induced Pluripotent Stem Cells IPSC Bank by Dr Angie Serrano

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

Rett Syndrome and KAT6A Related Disorders: Overlapping Clinical and Genetic Journey of Affected Individuals by Dr Simranpreet Kaur, PhD

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

Genetic and Neurodevelopmental Features of the KAT6A Syndrome by Dr. Harris, MD, Dr. Fahrner, MD, PhD and Dr. Smith, PhD

Importance of the Registry in Advancing Research by Suzanne Rossov, Senior Research Program Manager, National Organization for Rare Disorders (NORD)

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

Special Financial Planning Considerations for Special Families by Stephen Ehrens, Wealth Advisor, CPA, CLTC, and Kevin Young, CFP

When the School Bus Stops Coming by Susan Hartung, M.A. Ed in Special Education

International Contacts

Asociación KAT6A y amigos (Spain)

KAT6 France Association

KAT6A Belgium ASBL

KAT6A Blog from Netherlands

KAT6A Foundation Austria

KAT6A Foundation: KAT6A and KAT6B Research and Raising Awareness Group

KAT6 Support Group on Facebook

KAT6 Mother Advocates for Inclusive Playground

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 […]

Sign up for the Guardian Study- Newborn Screening

Interested in newborn health? Learn about the GUARDIAN Study! The GUARDIAN Study is a free research study screening newborns for rare conditions not covered by standard tests. Early diagnosis can help start treatment as soon as possible. Your choice to participate won’t affect standard screening. Your baby’s results are confidential. Sign up after birth or […]

New Study Seeks Input from KAT6A Caregivers Regarding Speech and Language Therapy

Tilly Collins is in the third year of her speech and language therapy degree, studying at Cardiff Metropolitan University, UK. Collins is interested in hearing your thoughts, opinions and experiences of speech and language therapy as parents of children with KAT6A syndrome. Your involvement will be a 30-minute casual interview over the phone or a […]

Make a Difference

Help us support people and their families living with KAT6A and KAT6B syndromes. Your donations will fund vital research into KAT6A and KAT6B gene mutations and provide assistive equipment, technology, and therapies to families through our Empowered grants. All donations are tax deductible in the US and go to KAT6 Foundation, a nonprofit 501(c)(3).

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