Drug Discovery World

NOVEMBER 7, 2022

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . It also detected potential disease-causing variants in a further 3.9% Context . The study . of patients. .

Genome 52

Genome Genomics Genetics Genetic Disease 52

pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 103

Genome Genomics Genetics Genome Project 103

pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 80

Genome Genomics Genetics Genome Project 80