Hist1h1E Syndrome and our Research Physicians

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. 

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.

John M Graham Jr MD, ScD is a pediatrician and medical geneticist with over 40 year's experience. He holds a lifetime Professor of Pediatrics Emeritus position at UCLA David Geffen School of Medicine and is on staff at Cedars-Sinai Medical Center in Los Angeles. He directed the Cedars Craniofacial Clinic for 15 years and is a past President of the Society of Craniofacial Genetics and a co-chair of the Craniofacial Malformations Gene Curations Expert Panel.  He has published over 300 peer-reviewed articles on various genetic disorders and written 80 books and book chapters regarding clinical genetics.

Elizabeth J. K. Bhoj, MD, PhD, is an attending physician with the Division of Human Genetics at Children’s Hospital of Philadelphia (CHOP). She is a graduate of the University of Texas Southwestern Medical Center at Dallas, earning not only her MD but a doctorate in philosophy there as well.

Dr. Bhoj’s papers on genetic diseases have been widely published, and she has given presentations on the topic and has been invited to lecture at numerous institutions. She is Associate Editor at the American Journal of Medical Genetics and is Assistant Professor of Pediatrics at the University of Pennsylvania’s Perelman School of Medicine.

Her work at CHOP is driven by the desire to provide solutions to the families of children with complex problems, Dr. Bhoj says. “I saw how difficult it was for patients and their families who were facing major medical issues without an explanation. I wanted to be able to find those explanations so every family could get the answers and treatments they need.”

In a field that is rapidly evolving, she takes an integrative approach to help her patients. “Genetics is moving so fast,” she says. “I'm really excited about combining information from the clinic and the laboratory to get kids the most accurate diagnosis as quickly as possible.”

Her research consists of finding new genetic disorders, determining how they work, and developing targeted treatments for them. “I am most interested in patients with complex disorders, and I especially love finding treatable disorders,” she says.

For patients suspected of having a genetic disorder, her philosophy of care goes beyond the makeup of the disease but incorporates the whole child. “Our team uses the most advanced genetic sequencing technology combined with extensive history and physical exam testing for the best possible outcomes for patients and their families suspected of having a genetic disorder,” she says.

Dr. Bhoj hopes that patients and their families leave CHOP knowing that she is part of a family committed to solving problems and capable of finding solutions, she says. “There is such a concentration of expertise here in every field — there will be a world expert for any condition.”

The focus at CHOP is building personal relationships with every young patient and their family. That aspect of Dr. Bhoj’s work is what she finds most rewarding. “I love giving families hope for their medically complex children. I want them to feel like they have a place on our team, and to have confidence in the solutions provided to their children.”