Rare Disease: The GP's role
Channel: Genomics Education Programme
Date: 2015-02-24

*Please note, this film was published in 2015. You can find a more up-to-date resource for GPs and other primary care practitioners here: https://www.genomicseducation.hee.nhs.uk/genomics-in-healthcare/genomics-in-primary-care

This short film tells the story of Lewis and his family. Lewis has Batten disease, a rare neurodegenerative disorder that begins in childhood. Lewis’s mum Samantha talks about their struggle for a diagnosis and the impact a rare disease has had on the entire family. 

Dr Nadeem Qureshi provides practical insight and advice for GPs who have patients with suspected rare diseases. Professors Sir John Burn and Mark Caulfield discuss the role that research, specifically the 100,000 Genomes Project, can play in helping to diagnose and treat patients with rare diseases.

For more information please see https://www.genomicseducation.hee.nhs.uk

For more support, these organisations are here to help:

Rare Disease UK
http://www.raredisease.org.uk
 
Syndromes Without a Name (SWAN UK)
http://undiagnosed.org.uk 

Unique 
www.rarechromo.org 

Genetic Alliance UK
http://www.geneticalliance.org.uk 

NHS Choices
http://www.nhs.uk 

UK Clinical Trials Gateway
http://www.ukctg.nihr.ac.uk 

Genomics England
http://www.genomicsengland.co.uk 

Deciphering Developmental Disorders (DDD)
http://www.ddduk.org