1,000 genome project diagnoses for two 4 year olds
Author: Professor Joyce Harper
The 100,000 genome project was launched by David Cameron in 2014 to create a new genomic medicine service for the NHS – transforming the way people are cared for. Genomes from 70,000 NHS patients with a rare disease, plus their families, and patients with cancer will be DNA sequenced.
Two girls, Jessica Wright and Georgia Walburn-Green, are patients at Great Ormond Street Hospital in London and had rare, unknown conditions. Both girls had signed up for the genome project and for the first time, scientists discovered which genes were causing the girls genetic conditions. Jessica was diagnosed with GLUT1 deficiency syndrome which means her brain does not get enough energy. A special diet may help her. Georgia (pictured) was diagnosed with a gene mutation which caused her rare disorder with a number of physical and mental health problems.
It is hoped that many more can benefit from DNA sequencing.
Read More:
http://www.genomicsengland.co.uk/the-100000-genomes-project/
Vlog by Professor Joyce Harper explaining genetic disease – https://www.youtube.com/watch?v=K2J4kJfFVNQ
Image Credit: Theguardian.com
You must be logged in to post a comment.