Fragile X Syndrome Research Workshop 2018

January 17th, 2018

The Fragile X Syndrome Research Workshop will be held in Edinburgh on 21st May. This year’s workshop is a collaboration between the Fragile X Society and the Patrick Wild Centre at the University of Edinburgh. The aim of the workshop is to bring together the research community who are either currently involved in, or who are interested in, fragile X syndrome research. The aim is to promote further interactions amongst UK-based (and EU-based) researchers who investigate the condition, with a …

CDKL5 Variants: Improving our understanding of a rare neurological disorder

January 15th, 2018

Dr Ralph Hector, a researcher fellow in the lab of Dr Stuart Cobb has recently had a paper published in the journal Neurology Genetics on improving our understanding of the rare neurological disorder, CDKL5. This is a study of all the genetic variants we see in the CDKL5 gene, in patients with CDKL5 deficiency and in the general population. The study, a collaboration with clinicians in Europe, USA and Australia, analysed data from recent large-scale studies in which thousands of people in …

Age-related changes detected using functional MRI in FMR1 premutation carriers

January 9th, 2018

Patrick Wild Centre PhD Student Stephanie Brown and colleagues have recently published a new paper on age-related changes in FMR1 premutation carriers. The FMR1 gene is located on the X chromosome, and an expansion of the gene structure is known as the FMR1 premutation. Carriers of the FMR1 premutation may develop a disease in later life called the fragile X-associated tremor/ataxia syndrome (FXTAS), which involves progressive symptoms of shakiness, loss of co-ordination and learning and memory problems. The present study …