pharmaphorum

FEBRUARY 25, 2021

Chaired by the Genetic Alliance, the virtual meeting saw representatives from Scotland, England, Wales, and Northern Ireland discuss the implementation of the UK Government’s Rare Disease Framework. We now know that 80% of rare diseases have a genetic origin. Genomic technology, therefore, has a key role to play in our work,” he said.

Genome 96

Genome Genomics Genetics Medicine 96

Pharmaceutical Technology

JUNE 30, 2022

The group analysed 12,222 samples collected through whole genome sequencing efforts of the UK National Health Service as part of the 100,000 Genomes Project and added further data on 6,418 cancers from the International Cancer Genome Consortium and the Hartwig Medical Foundation. Both teams had the same underlying goal.

Genome Project 130

Genome Project Genome Genomics DNA 130

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 87

Genome Genomics Genetics Genome Project 87

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 75

Genome Genomics Genetics Genome Project 75

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 58

Drugs Genome Project Genome Genomics 58

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 117

Genome Genomics Medicine Gene 117

pharmaphorum

FEBRUARY 26, 2021

The field of medicine is riddled with challenges pertaining to diagnosis and finding treatment therapies for rare diseases. 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.

Drugs 60

Drugs Genome Project Genome Genomics 60

XTalks

FEBRUARY 11, 2021

The Human Genome Project recently marked 20 years since the publication of the first full sets of human genomic sequences, an endeavor that spanned well over a decade. Today, new next-generation sequencing technologies allow for the sequencing of complex genomes within just a day or two. Rosalind Franklin.

Genetics 119

Genetics DNA Genome Genomics 119

Drug Discovery World

OCTOBER 16, 2023

Indeed, this is bolstered by top tier universities like Newcastle University, which specialises in structure-based approaches for drug discovery, developing innovative technologies that support the identification of new medicines, and is well-established in cancer drug discovery. Government investment of £1.3

Drugs 75

Drugs Life Science Gene Therapy Genome 75

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. This is the way in which the UK’s Our Future Health research programme aims to provide a breakthrough in healthcare and medicine.

Genome Project 97

Genome Project Research Genome Genomics 97

Drug Discovery World

APRIL 4, 2024

The university will also support the European Union’s 1+ Million Genomes initiative, which seeks to boost innovation in healthcare across Europe. The data are expected to drive a new level of understanding about the genetics of cardiovascular disease, mental, reproductive and female health, cancer and rare diseases, and treatment outcomes.

Biobanking 52

Biobanking Genome Genomics Genome Project 52

Roots Analysis

AUGUST 31, 2023

Recent advances in DNA sequencing technologies have led to significant developments in healthcare-focused research on precision medicine and diagnostics. Nutrigenomics is the science studying the relationship between human genome, nutrition and health.

Genome 40

Genome Genomics Genetics Gene 40

Drug Discovery World

OCTOBER 6, 2022

Jarret Glasscock , PhD, CEO of Cofactor Genomics explains how diagnostics are emerging as the key to ensuring the right patients get matched to the right therapy, at the right time. . Precision medicine promises a paradigm shift to confidently match the right patients to the right treatment at the right time.

Medicine 52

Medicine Clinical Trials Clinical Trials Genome 52

pharmaphorum

SEPTEMBER 13, 2022

Although early accounts of an illness akin to leukaemia can be traced back to Ancient Greece, the first official description of blood cancer didn’t appear until 1832, when British pathologist and pioneer of preventative medicine Thomas Hodgkin used the controversial concept of micrology to identify the abnormalities in the lymphatic system.

Genome Project 96

Genome Project Genome Genomics DNA 96

Drug Discovery World

JULY 19, 2023

Bioinformatics and genetic sequencing are starting to be placed front and centre of public research programmes as scientists from around the world recognise the substantial benefits of knowledge sharing and resource pooling when it comes to genetic science.

Genome 52

Genome Genomics Bioinformatics Genetics 52

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

Drug Discovery World

JULY 15, 2022

The first complete, gapless sequence of a human genome was published 1 April 2022 in a special issue of the journal Science 1. While The Human Genome Project mapped about 92% of the human genome two decades ago, sequencing the last 8% of the genome proved highly challenging. Genome Biology, 21:30, (2020).

Genome 52

Genome Genomics DNA Containment 52