HIST1H1E - Defying the odds, not defining them
Hist1h1E Syndrome and our Research Physicians
Dr. Kate Tatton-Brown, Chief Genetics Physician
Dr. Rosanna Weksberg, Professor of Pediatrics and Medical Genetics
Dr. Rosanna Weksberg, Professor of Pediatrics and Medical Genetics
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
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 most notably Drs Deepika Burkhardt and John Graham from Cleveland and Cedars-Sinai Los Angeles respectively, to understand more about this new syndrome and develop evidence-based management guidelines.
Dr. Rosanna Weksberg, Professor of Pediatrics and Medical Genetics
Dr. Rosanna Weksberg, Professor of Pediatrics and Medical Genetics
Dr. Rosanna Weksberg, Professor of Pediatrics and Medical Genetics
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 disor
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.