Fragile X-associated conditions: implications for the whole family
September 21st, 2019Colleagues from the Patrick Wild Centre have recently published a paper in BJGP journal with the focus on Fragile X Syndrome (FXS) in primary care. It argues that clinicians in primary care should be aware of the condition and in particular be vigilant for common comorbidities to allow for early treatment. It points out that the familial nature of FXS is of importance to general practice. The article summarises the common issues for individuals with FXS and carriers of the …
First SYNGAP1 UK Family Meet Up
August 10th, 2019The Patrick Wild Centre was excited to host the first UK SYNGAP1 Family Meet Up in June 2019! Families from around the UK and other parts of Europe came together in Edinburgh for a day of presentations about SYNGAP1 and neurodevelopmental disorders more generally. Distinguished speakers from many different National Health Service, university and charitable organisations shared their expertise. They covered everything from laboratory science SYNGAP1 studies to the SYNGAP1 Syndrome in people, the mapping out of SYNGAP1 clinical research …
Launch of the Neuro-GD Study
June 21st, 2019Dr Andy Stanfield is pleased to announce the launch of the Neuro-GD study which aims to better understand the clinical features of people with genetic conditions associated with intellectual disability and autism. The initial focus is on SYNGAP1 related intellectual disability and fragile X syndrome but more conditions will be added. For more information click here.