genomic england
Genomics Are a Lifesaver for Patients With Rare Diseases
In 2016, Jessica Wright became one of the first children to be diagnosed by the 100,000 Genomes Project, a program that provides whole-genome sequencing services for patients. She suffered from an unknown disease that caused epilepsy and affected her motor control. No treatment seemed to work. After years of numerous medical tests--from MRI scans to lumbar punctures--and failed treatments, her parents decided to enroll the 4-year-old in the 100,000 Genomes Project. The researchers found that Jessica's genome contained 67 rare genetic variants not present in her parents' genome.
- Health & Medicine > Pharmaceuticals & Biotechnology (1.00)
- Health & Medicine > Diagnostic Medicine (1.00)
- Health & Medicine > Therapeutic Area > Neurology (0.38)
- Health & Medicine > Therapeutic Area > Genetic Disease (0.38)
Data Architect at Genomics England - London, United Kingdom
Genomics England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments – with patients and participants at the heart of it all. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody. The Data Architect will be joining the Enterprise Data Squad and will take responsibility for ensuring that our digital products are underpinned by a robust data architecture.
Lead Genomic Data Scientist - Diversity at Genomics England - London, United Kingdom
Genomics England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments – with patients and participants at the heart of it all. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody. We are looking for a Lead Genomic Data Scientist for an exciting new programme to tackle the lack of Diversity in genomic datasets.
- Information Technology > Artificial Intelligence (0.71)
- Information Technology > Data Science (0.63)