Research & Information
Yong-Hui Jiang, MD, PhD
Dr. Jiang is a physician scientist active both in basic research and clinical practice. His research interests are to:
- Uncover the genetic and epigenetic bases of neurodevelopmental disorders or rare diseases with neurodevelopmental defects;
- Model genetic diseases using human patients derived cellular models and genetic mutant mice;
- Understand the circuit and molecular mechanisms underlying autism spectrum disorder;
- 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 adult.
Kate Tatton Brown, MD, PhD
Professor Kate Tatton Brown is a consultant in clinical genetics. She has a particular interest in paediatric genetic disorders, growth disorders, endocrine disorders and paediatric cancer genetics.
Professor Tatton Brown qualified with a BMBCh from the University of Oxford in 1996, before earning an MD in 2006. She undertook her professional training at Great Ormond Street and St George’s Hospitals. As well as her NHS clinical practice, Professor Tatton Brown runs a research study to investigate the genetic causes and clinical presentations of conditions associated with a learning disability and increased growth. In addition, she is committed to educating and training the healthcare workforce in genomics.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
May 4, 2017 – Tatton-Brown et al
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
September 5, 2019 – Flex et al
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
October 2019 – Burkardt et al
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
January 7, 2020 – Ciolfi et al