We host quarterly virtual research roundtables to provide a forum for scientists and clinicians to share updates on current projects, engage in discussions, and foster collaborations so that we can accelerate progress toward our vision of a brighter future where Glut1 Deficiency will be easy to diagnose early, treat effectively, and cure completely.
we'd love for you to join us!
our next roundtable
Tuesday, April 23, 2024
11:00 to 12:00 Eastern
Please join us as we welcome Dr. Elizabeth Radford from the University of Cambridge's Wellcome Sanger Institute to talk about her work in determining the functional implications of genetic variants in Glut1 Deficiency.
Dr. Elizabeth Radford BA MB BChir PhD RCPCH
Academic Clinical Lecturer in Paediatrics
University of Cambridge
I am interested in the genetic and epigenetic factors which control how babies and children develop, and the interactions between them. I study these factors both in the context of normal development, and when this developmental trajectory has changed – resulting in a developmental disorder. I hope that by understanding these mechanisms better we may be able to develop new treatments for these conditions.
Genes act as a code which is ‘read’ to make proteins, the building blocks of cells. Currently, we do not properly understand our genetic code. We all carry genetic changes, but most do not cause problems. In a genetic condition, a change in this code changes the function of a protein, altering a child’s development. We check a person’s genetic code when we suspect a genetic condition. Unfortunately, we cannot always predict which genetic changes, or variants, will alter a protein’s function. Therefore, it can be difficult to decide whether a child’s difficulties are due to the genetic changes observed. This often makes diagnosis difficult. This is particularly true in young children or unborn babies, as their difficulties may not yet be fully known. However, diagnosing children when they are young can improve treatment and reduce the disability caused by a genetic condition.
Currently, I am using a variety of approaches to improve the interpretation of genetic variants in neurodevelopmental disorder associated genes, and to translate these data into greater clinical diagnostic certainty. My doctoral research focussed on epigenetic plasticity in the context of normal development and developmental programming across generations.
stay tuned for information about the second presenter!
previous roundtable reports
Winter 2024: Glut1 Deficiency connections to Congenital Disorders of Glycosylation and Glycogen Storage Diseases
Special Presentations: Dr. Hudson Freeze and Dr. Matthew Gentry
Fall 2023: Underlying Mechanisms of Cognitive Dysfunction and Ketone Variability During Menstruation
Special Presentations: Dr. Maoxue Tang and Dr. Valentina De Giorgis
Summer 2023: Glut1 in Neural Development and the International Neurological Ketogenic Society
Special Presentations: Dr. Caroline Pearson and Dr. Jong Rho
Spring 2023: Speech and Language Focus
Special Presentations: Prof. Dr. Jörg Klepper, Prof. Dr. Kristina Simonyan
Winter 2023: Adult Patient Focus
Special Presentations: Dr. Elizabeth Felton, Dr. Mackenzie Cervenka, and Dr. Tonya McDonald
Fall 2022: Imaging Focus
Special Presentations: Dr. Douglas Rothman, Dr. Nirbhay Yadav, Dr. Ramon Sun, and Dr. Joshua Kaggie
Spring 2022: Treatment Development Focus
Special Presentations: Dr. Christina Gurnett, Dr. Pierre Magistretti, and Dr. Serena Silver
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