Drug Discovery World

NOVEMBER 7, 2022

In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis. Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. The study .

Genome 52

Genome Genomics Genetics Genetic Disease 52

pharmaphorum

MARCH 25, 2021

The COSMIC (Catalogue of Somatic Mutations in Cancer) database, operated by the Wellcome Sanger Institute, grew out of the work of the Cancer Genome Project and has been gathering data on mutations associated with specific cancers for almost 17 years.

Drugs 59

Drugs Genome Project Genome Genomics 59

XTalks

NOVEMBER 3, 2023

CRISPR works as genetic scissors to edit parts of the genome. The companies used data from the 1,000 Genomes Project but from that, only 61 datasets made the cut to encompass the ideal patient population. “I The CRISPR-Cas9 gene editing system was first discovered to be endogenous in bacteria.

Gene Therapy 59

Gene Therapy Gene Gene Editing In-Vivo 59

pharmaphorum

FEBRUARY 26, 2021

Small sample size in trials: Finding eligible patients for clinical trials of orphan medicines is a big challenge. Genetic testing has played a big role in enhancing the diagnosis process. For instance, the UK government’s 100K Genomes Project has achieved its goal of sequencing the genomes of 100,000 people in 2019.

Drugs 78

Drugs Genome Project Genome Genomics 78

Drug Discovery World

MARCH 6, 2024

The development of effective new disease-modifying treatments in neurodegenerative and neuropsychiatric disorders has been hindered by their inherent genetic complexity, environmental influences, and clinical variability. This is comparatively easier to accomplish in these diseases because they are relatively monogenic.

Genome 64

Genome Genomics Clinical Trials Clinical Trials 64

pharmaphorum

DECEMBER 6, 2022

A few decades ago, gathering genetic data on the scale of the 100,000 Genomes Project would have been unthinkable – it was only in 2003 that the entire human genome was mapped. However, the scale goes far beyond 100,000 genomes and instead is looking to recruit five million adult volunteers. Aims for the project.

Genome Project 98

Genome Project Research Genome Genomics 98

pharmaphorum

SEPTEMBER 14, 2020

Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for his children’s rare neurological diseases. Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential.

Genome 119

Genome Genomics Medicine Gene 119