Useful Resources

We are busy creating some information to show national and local care and support resources in the UK & Ireland, which we hope will be of use. We are also trying to build a buddy system and set up regional networks. These things take time, especially when it’s all done voluntarily in people’s spare time, so please bear with us. In the meantime, there are some useful links below, including a link to the official UK screening guidelines for PHTS.

Ian – Spring 2018

Screening Guidelines

Screening Guidelines have been moved to a new separate page.


British Society for Genetic Medicine: Map of Genetics Centres:
Genomics England: Map of Genetics Centres:
Nottingham University Hospital: Talking to children about genetic conditions:
Unique: After Diagnosis (a guide aimed at parents with children under 5):
Rare Disease UK: Living with a rare or undiagnosed condition – The emotional impact and effect on mental health:
Information on NHS Genetic Counselling services:
Mind: How to Cope when supporting someone else:
FIND: Further Inform Neurogenetic Disorders:
Cerebra Anxiety Guide – A Guide for Parents: