The purpose of the HIST1H1E Foundation Medical Advisory Board is to assist us in interpreting all current HIST1H1E research and to answer specific, medical and scientific questions. The other primary objective will be to review future research proposals. HIST1H1E Foundation is committed to supporting research into the HIST1H1E gene through the awarding of research grants from charitable funds raised. We hope to be able to support many research projects in the future.

The Advisory Board consists of individuals with a wide variety of experience and expertise and were chosen very thoughtfully by our Board of Directors. As we develop relationships with additional medical and scientific professionals and rare disease stakeholders, we expect to add more members to our team.


Professor Kate Tatton-Brown is a Medical Genetics doctor working in London, UK. She studied medicine
at the University of Oxford before training first in Pediatrics and then in Medical Genetics. She has been
investigating conditions associated with increased growth and a learning disability since 2001 and has published widely in this area. She also holds a specialist growth clinic at St George’s Hospital, London, where she meets patients and their families from around the world. Kate, as part of a team of scientists and clinicians, first discovered HIST1H1E gene alterations as a cause of a learning disability syndrome in 2017. In their initial report, they described five individuals with similar HIST1H1E gene variants and a recognizable pattern of symptoms. The syndrome has since been named the HIST1H1E syndrome. Kate is leading a clinical study, in collaboration with scientists and clinicians worldwide, to understand more about this new syndrome and develop evidence-based management guidelines.


Dr. Jiang is a Medical Genetics Physician-Scientist at Yale School of Medicine active in both research and clinical practice.
His research interests are to:

  1. Uncover the genetic and epigenetic bases of neurodevelopmental disorders or rare diseases with
    neurodevelopmental defects such as HIST1H1E.

  2. Model genetic diseases using human patients derived cellular models and genetic mutant mice.

  3. Understand the circuit and molecular mechanisms underlying autism spectrum disorder.

  4. Develop novel molecular and epigenetic targeted therapies for genetic and epigenetic diseases.

Dr. Jiang’s clinical expertise is on clinical and biochemical genetics of rare and undiagnosed diseases in children and adults. Dr. Jiang is currently studying and recruiting HIST1H1E patients for his lab work at Yale to further understand the frameshift of the HIST1H1E gene and identify treatments for this syndrome


Rosanna Weksberg is a Professor of Pediatrics and Medical Genetics at the Hospital for Sick Children and University of Toronto. She did her PhD in Medical Biophysics at the University of Toronto and then attended medical school followed by specialty training in Pediatrics and Medical Genetics. She initiated a clinic for human growth disorders in 1995 with a parallel research program focused on the dysregulation of the epigenome in disorders of human growth and neurodevelopment. Specifically, she studies the impact of mutations in genes that encode epigenetic regulators on DNA methylation. She has extensive international collaborations including Drs Kate Tatton-Brown and John Graham who are pioneers in the field of overgrowth disorders. Dr Weksberg is an Associate Editor for the American Journal of Medical Genetics.

Disclaimer: The information provided on this website is to inform and help parents cope with the sudden, unexpected change in their life due to a HIST1H1E diagnosis. The information contained on this site is not intended to replace information you have received from doctors or other health professionals. We are not doctors; we are parents of children diagnosed with a HIST1H1E change.

HIST1H1E Foundation is recognized as a 501(c)3 non-profit corporation. EIN 84-371036 | Privacy Policy

The trademarks, logos, and service marks displayed on this website, including the HIST1H1E Foundation logo, are the property of HIST1H1E Foundation.

Copyright HIST1H1E Foundation 2021 All Rights Reserved